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Marletta S, Caliò A, Pierconti F, Harada S, Netto GJ, Antonini P, Segala D, Pedron S, Marcolini L, Stefanizzi L, Martignoni G. SFPQ::TFE3-rearranged PEComa: Differences and analogies with renal cell carcinoma carrying the same translocation. Pathol Res Pract 2025; 270:155963. [PMID: 40239600 DOI: 10.1016/j.prp.2025.155963] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/07/2025] [Revised: 03/23/2025] [Accepted: 04/08/2025] [Indexed: 04/18/2025]
Abstract
Among perivascular epithelioid cell neoplasms (PEComas), some tumors have been found to carry rearrangements of the TFE3 gene. Such tumors can rarely occur in the kidney, closely resembling TFE3-rearranged renal cell carcinoma. This study describes one additional case of TFE3-rearranged PEComa, two TFE3-rearranged renal cell carcinomas, and a detailed literature review. All three tumors were composed of nested clear to eosinophilic cells with peculiar morphological findings in each case. By immunohistochemistry, PEComa expressed cathepsin K, HMB45, and CD68 (PG-M1), while labeling negative for PAX8, Melan-A, S100, smooth muscle actin, desmin, CD10, CD13, and keratins 7 and AE1/AE3. Conversely, both TFE3-rearranged renal cell carcinomas were positive for PAX8, HMB45, and CD10, alongside staining negative for CD68 (PG-M1), Melan-A, CD13, and keratins. One of them expressed cathepsin K. TFE3 gene rearrangement was identified in all three cases by FISH, along with SFPQ::TFE3 fusion by molecular analysis. Our cases, combined with a comprehensive literature review, highlight several key differences and similarities: SFPQ::TFE3-rearranged PEComas lack the pseudorosettes frequently observed in SFPQ::TFE3-rearranged renal cell carcinoma, although both may exhibit nested epithelioid morphology. Both tumor types can be positive for cathepsin K and melanogenesis markers and negative for smooth muscle markers. However, PAX8, keratins, and CD10 were expressed in TFE3-rearranged renal cell carcinoma while CD68(PG-M1) was positive in PEComa. Notably, the SFPQ gene is the most common fusion partner in TFE3-rearranged PEComas, while it is the third most frequent one in TFE3-rearranged renal cell carcinoma. Nevertheless, the exon breakpoints are analogous in both tumor types.
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Affiliation(s)
- Stefano Marletta
- Department of Diagnostics and Public Health, Section of Pathology, University of Verona, Italy; Division of Pathology, Humanitas Istituto Clinico Catanese, Catania, Italy
| | - Anna Caliò
- Department of Diagnostics and Public Health, Section of Pathology, University of Verona, Italy
| | - Francesco Pierconti
- Division of Anatomic Pathology and Histology, Foundation "A. Gemelli" University Hospital, Università Cattolica del Sacro Cuore, Rome, Italy
| | - Shuko Harada
- Division of Genomic Diagnostics & Bioinformatics, Department of Pathology, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, AL, USA
| | - George J Netto
- Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
| | - Pietro Antonini
- Department of Diagnostics and Public Health, Section of Pathology, University of Verona, Italy
| | - Diego Segala
- Department of Molecular and Translational Medicine, Section of Pathology, University-Spedali Civili of Brescia, Brescia, Italy
| | - Serena Pedron
- Department of Diagnostics and Public Health, Section of Pathology, University of Verona, Italy
| | - Lisa Marcolini
- Department of Pathology, Pederzoli Hospital, Peschiera del Garda, Italy
| | | | - Guido Martignoni
- Department of Diagnostics and Public Health, Section of Pathology, University of Verona, Italy; Department of Pathology, Pederzoli Hospital, Peschiera del Garda, Italy.
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Zhou JA, Fan ZC, Zheng RJ, Guo QX, Su S. Diagnostic challenges and radiological insights of rare hepatic perivascular epithelioid cell tumor: A case report and review of the literature. World J Gastrointest Surg 2025; 17:105220. [DOI: 10.4240/wjgs.v17.i5.105220] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/14/2025] [Revised: 02/27/2025] [Accepted: 03/21/2025] [Indexed: 05/23/2025] Open
Abstract
BACKGROUND Hepatic perivascular epithelioid cell tumor (PEComa) is an extremely rare neoplasm that is often difficult to diagnose due to its nonspecific clinical and radiological features. This case emphasizes the importance of imaging and histopathological examination in distinguishing PEComa from other liver tumors, and the necessity of early intervention.
CASE SUMMARY A 36-year-old woman presented with a liver mass discovered during a routine physical examination. Initially diagnosed as focal nodular hyperplasia based on contrast-enhanced computed tomography, she declined surgical intervention. Two years later, re-examination revealed an approximately 60% increase in the size of the mass and suggested the possibility of hepatocellular carcinoma. She subsequently underwent surgical resection. Postoperative histopathological and immunohistochemical analysis revealed positivity for HMB-45 and Melan-A, confirming the diagnosis of hepatic PEComa. A 13-month follow-up revealed no recurrence or metastasis.
CONCLUSION Hepatic PEComa requires a combination of radiological and immunohistochemical evaluation for accurate diagnosis. This case highlights the importance of early surgical intervention and regular follow-up to monitor for recurrence or metastasis.
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Affiliation(s)
- Jun-An Zhou
- Department of General Surgery (Hepatobiliary Surgery), The Affiliated Hospital of Southwest Medical University, Luzhou 646000, Sichuan Province, China
| | - Zheng-Chao Fan
- Department of Ultrasound, The Affiliated Hospital of Southwest Medical University, Luzhou 646000, Sichuan Province, China
| | - Ru-Jun Zheng
- Department of General Surgery (Hepatobiliary Surgery), The Affiliated Hospital of Southwest Medical University, Luzhou 646000, Sichuan Province, China
| | - Qin-Xi Guo
- Department of Pathology, The Affiliated Hospital of Southwest Medical University, Luzhou 646000, Sichuan Province, China
| | - Song Su
- Department of General Surgery (Hepatobiliary Surgery), The Affiliated Hospital of Southwest Medical University, Luzhou 646000, Sichuan Province, China
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Nakano K. Future directions for the molecular therapy of rhabdomyosarcoma: how do we detect and investigate new, appropriate target mutations and populations? Transl Pediatr 2025; 14:769-772. [PMID: 40386363 PMCID: PMC12079679 DOI: 10.21037/tp-2024-605] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/24/2024] [Accepted: 04/02/2025] [Indexed: 05/20/2025] Open
Affiliation(s)
- Kenji Nakano
- Department of Medical Oncology, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan
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Saadoun JE, Traversari E, Meillat H, Guiramand J. Perivascular epithelioid cell tumour (PEComa) of the ligamentum teres hepatis, a rare and mobile tumour presentation. ANZ J Surg 2025; 95:832-833. [PMID: 40018953 PMCID: PMC11982651 DOI: 10.1111/ans.19418] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/21/2024] [Revised: 01/15/2025] [Accepted: 01/16/2025] [Indexed: 03/01/2025]
Affiliation(s)
| | - Eddy Traversari
- Department of Surgical Oncology, Institut Paoli Calmettes, Marseille, France
| | - Hélène Meillat
- Department of Surgical Oncology, Institut Paoli Calmettes, Marseille, France
| | - Jérôme Guiramand
- Department of Surgical Oncology, Institut Paoli Calmettes, Marseille, France
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Kitagawa A, Nishio A, Hikita H, Kato T, Doi A, Sato K, Tahara S, Kimura Y, Ono Y, Takehara T. A rare case of a malignant hepatic perivascular epithelioid cell tumor (PEComa) with aggressive progression following the relapse of renal pecoma despite everolimus therapy. Clin J Gastroenterol 2025; 18:343-351. [PMID: 39762618 DOI: 10.1007/s12328-024-02085-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/09/2024] [Accepted: 12/08/2024] [Indexed: 02/11/2025]
Abstract
A 55-year-old man with tuberous sclerosis complex (TSC) was diagnosed with left renal angiomyolipoma (AML), a group of perivascular epithelioid cell tumors called PEComas. He had received the mTOR inhibitor everolimus, which resulted in a complete response. However, a left renal mass relapsed in two years, followed by the occurrence of a hepatic mass five months later. Renal biopsy yielded no diagnosis because of massive necrosis in the tumor cells of the left kidney; however, pathological evaluation of the hepatic mass revealed a PEComa with pleomorphic cells. Even with continuous everolimus therapy, hepatic PEComa progressed aggressively and occupied the entire liver within a year from the first detection. An autopsy revealed pleomorphic cells with nuclear atypia spreading in the liver, kidney, and lung, which were not present in the renal AML sample prior to the initiation of everolimus therapy. This finding raises the possibility of a malignant transformation of the PEComa under the mTOR inhibitor therapy. While PEComas often present with benign characteristics, there are rare instances where the tumor exhibits malignant behavior. This highlights the importance of careful monitoring and long-term follow-up to ensure early detection and effective management of potential malignancies.
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Affiliation(s)
- Ayaka Kitagawa
- Department of Gastroenterology and Hepatology, Osaka University Graduate School of Medicine, Suita, Japan
| | - Akira Nishio
- Department of Gastroenterology and Hepatology, Osaka University Graduate School of Medicine, Suita, Japan
| | - Hayato Hikita
- Department of Gastroenterology and Hepatology, Osaka University Graduate School of Medicine, Suita, Japan
| | - Taigo Kato
- Department of Urology, Osaka University Graduate School of Medicine, Suita, Japan
| | - Akira Doi
- Department of Gastroenterology and Hepatology, Osaka University Graduate School of Medicine, Suita, Japan
| | - Katsuhiko Sato
- Department of Gastroenterology and Hepatology, Osaka University Graduate School of Medicine, Suita, Japan
| | - Shinichiro Tahara
- Department of Pathology, Osaka University Graduate School of Medicine, Suita, Japan
| | - Yasushi Kimura
- Department of High Precision Image-Guided Percutaneous Intervention, Osaka University Graduate School of Medicine, Suita, Japan
| | - Yusuke Ono
- Department of Diagnostic and Interventional Radiology, Osaka University Graduate School of Medicine, Suita, Japan
| | - Tetsuo Takehara
- Department of Gastroenterology and Hepatology, Osaka University Graduate School of Medicine, Suita, Japan.
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MacDonald W, Avenarius MR, Aziz J, Guo A, D'Souza DM, Satturwar S, Shilo K. Perivascular Epithelioid Cell Tumor of the Lung With a Novel YAP1::TFE3 Fusion. Int J Surg Pathol 2025:10668969251323936. [PMID: 40080865 DOI: 10.1177/10668969251323936] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 03/15/2025]
Abstract
Perivascular epithelioid cell tumor (PEComa) belongs to a family of rare mesenchymal neoplasms that share characteristic morphologic, immunohistochemical and molecular findings. In this report, we provide a detailed clinicopathological characterization of a PEComa incidentally discovered in the right lung of a 53-year-old woman. This tumor with epithelioid cell morphology and myomelanocytic differentiation demonstrated a TFE3::YAP1 fusion by targeted RNA sequencing. While a subset of PEComas shows TFE3 rearrangements, fusion with YAP1 has not been systematically documented in this entity. Clear cell stromal tumor of the lung and epithelioid hemangioendothelioma characteristically display the TFE3::YAP1 fusion; however, as currently defined, both lack myomelanocytic features. Here, we describe a novel TFE3 fusion partner that further expands the spectrum of molecular alterations seen in PEComa.
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Affiliation(s)
- William MacDonald
- Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, OH, USA
| | - Matthew R Avenarius
- Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, OH, USA
| | - Jenna Aziz
- Department of Surgery, The Ohio State University Wexner Medical Center, Columbus, OH, USA
| | - Aaron Guo
- Department of Surgery, The Ohio State University Wexner Medical Center, Columbus, OH, USA
| | - Desmond M D'Souza
- Department of Surgery, The Ohio State University Wexner Medical Center, Columbus, OH, USA
| | - Swati Satturwar
- Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, OH, USA
| | - Konstantin Shilo
- Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, OH, USA
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Omatsu I, Mukai H, Doi T, Ishikawa T, Itoh Y, Konishi E, Shishido-Hara Y. An autopsy case of TFE3-rearranged PEComa-like neoplasm with systematic embolization involving the heart. Cardiovasc Pathol 2025; 75:107715. [PMID: 39793912 DOI: 10.1016/j.carpath.2025.107715] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/14/2024] [Revised: 12/18/2024] [Accepted: 01/02/2025] [Indexed: 01/13/2025] Open
Abstract
A rare autopsy case of malignant transcription factor E3 (TFE3)-rearranged perivascular epithelioid cell tumor (PEComa)-like neoplasm is presented. An 84-year-old woman manifested multiple cerebral infarctions and repetitive embolic events in the supra mesenchymal artery (SMA), and the presence of a mobile mass in the heart's left ventricle was also revealed. Tumoral lesions were also found in a pelvic space and a right pleural cavity, and a biopsy was performed from one of the disseminated tumor masses in the right pleura. Pathological diagnosis of TFE3-rearranged PEComa-like neoplasm was defined based on the evidence of partial expression of Melan A, and strong nuclear expression of TFE3 and by detection of the Xp11.2 locus split signal with FISH. A post-mortem analysis via autopsy revealed the widespread intravascular tumors in the heart's left ventricle, supra mesenchymal vein (SMV), and partial vein. The left intraventricular tumoral mass was associated with thrombus and fibrine, and thrombotic emboli were also found in SMA, SMV, and left pulmonary arteries. Interestingly, organ-based tumor invasion accompanying desmoplastic reactions was hardly seen. The small intestine was perforated, likely due to ischemia, which resulted in suppurative peritonitis and sepsis. This was thought of as the direct cause of death. This is the first report of a precise autopsy investigation of TFE3-rearranged PEComa-like neoplasm. Tumoral localization was mostly intravascular or disseminative in the pleural cavity. Given the limited understanding of this tumoral pathophysiology, this case offers valuable insights for prompt diagnosis and effective treatment strategies.
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Affiliation(s)
- Ikoi Omatsu
- Department of Anatomic Pathology, Kyoto Prefectural University of Medicine, Japan
| | - Hiroki Mukai
- Department of Molecular Gastroenterology and Hepatology, Kyoto Prefectural University of Medicine, Japan
| | - Toshifumi Doi
- Department of Molecular Gastroenterology and Hepatology, Kyoto Prefectural University of Medicine, Japan
| | - Takeshi Ishikawa
- Department of Molecular Gastroenterology and Hepatology, Kyoto Prefectural University of Medicine, Japan
| | - Yoshito Itoh
- Department of Molecular Gastroenterology and Hepatology, Kyoto Prefectural University of Medicine, Japan
| | - Eiichi Konishi
- Department of Anatomic Pathology, Kyoto Prefectural University of Medicine, Japan
| | - Yukiko Shishido-Hara
- Department of Pathology and Applied Neurobiology, Kyoto Prefectural University of Medicine, Japan.
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Labra A, Schiappacasse G, Constenla D, Cristi J. Renal angiomyolipomas: Typical and atypical features on computed tomography and magnetic resonance imaging. World J Radiol 2025; 17:104282. [DOI: 10.4329/wjr.v17.i2.104282] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/16/2024] [Revised: 01/24/2025] [Accepted: 02/18/2025] [Indexed: 02/26/2025] Open
Abstract
Angiomyolipomas (AMLs) represent the most common benign solid renal tumors. The frequency of their detection in the general population is increasing owing to advances in imaging technology. The objective of this review is to discuss computed tomography (CT) and magnetic resonance imaging findings for both typical and atypical renal AMLs, along with their associated complications. AMLs are typically defined as solid triphasic tumors composed of varying amounts of dysmorphic and tortuous blood vessels, smooth muscle components and adipose tissue. In an adult, a classical renal AML appears as a solid, heterogeneous renal cortical mass with macroscopic fat. However, up to 5% of AMLs contain minimal fat and cannot be reliably diagnosed by imaging. Fat-poor AMLs can appear as hyperattenuating masses on unenhanced CT and as hypointense masses on T2WI; other AMLs may be isodense or exhibit cystic components. Hemorrhage is the most common complication, and AMLs with hemorrhage can mimic other tumors, making their diagnosis challenging. Understanding the variable and heterogeneous nature of this neoplasm to correctly classify renal AMLs and to avoid misdiagnosis of other renal lesions is crucial.
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Affiliation(s)
- Andres Labra
- Departamento de Imágenes, Facultad de Medicina Clínica Alemana-Universidad del Desarrollo, Santiago 7650568, Región Metropolitana, Chile
| | - Giancarlo Schiappacasse
- Departamento de Imágenes, Facultad de Medicina Clínica Alemana-Universidad del Desarrollo, Santiago 7650568, Región Metropolitana, Chile
| | - Diego Constenla
- Departamento de Imágenes, Facultad de Medicina Clínica Alemana-Universidad del Desarrollo, Santiago 7650568, Región Metropolitana, Chile
| | - Joaquin Cristi
- Departamento de Imágenes, Facultad de Medicina Clínica Alemana-Universidad del Desarrollo, Santiago 7650568, Región Metropolitana, Chile
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Baldi BG, Feitosa PHR, Rubin AS, Amaral AF, Freitas CSG, da Costa CH, Mancuzo EV, do Nascimento ECT, Araujo MS, Rocha MJJ, de Oliveira MR, Galvão TS, Torres PPTES, Carvalho CRR. Brazilian Thoracic Association recommendations for the management of lymphangioleiomyomatosis. J Bras Pneumol 2025; 51:e20240378. [PMID: 39936727 PMCID: PMC11796567 DOI: 10.36416/1806-3756/e20240378] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/17/2024] [Accepted: 01/01/2025] [Indexed: 02/13/2025] Open
Abstract
Lymphangioleiomyomatosis (LAM) is a rare disease, characterized as a low-grade neoplasm with metastatic potential that mainly affects women of reproductive age, in which there is proliferation of atypical smooth muscle cells (LAM cells) and formation of diffuse pulmonary cysts. It can occur in a sporadic form or in combination with tuberous sclerosis complex. In recent decades, a number of advances have been made in the understanding of the pathophysiology and management of LAM, leading to improvements in its prognosis: identification of the main genetic aspects and the role of the mechanistic target of rapamycin (mTOR) pathway; relationship with hormonal factors, mainly estrogen; characterization of pulmonary and extrapulmonary manifestations in imaging studies; identification and importance in the diagnosis of VEGF-D; a systematic diagnostic approach, often without the need for lung biopsy; use of and indications for the use of mTOR inhibitors, mainly sirolimus, for pulmonary and extrapulmonary manifestations; pulmonary rehabilitation and the management of complications such as pneumothorax and chylothorax; and the role of and indications for lung transplantation. To date, no Brazilian recommendations for a comprehensive approach to the disease have been published. This document is the result of a non-systematic review of the literature, carried out by 12 pulmonologists, a radiologist, and a pathologist, which aims to provide an update of the most important topics related to LAM, mainly to its diagnosis, treatment, and follow-up, including practical and multidisciplinary aspects of its management.
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Affiliation(s)
- Bruno Guedes Baldi
- . Divisao de Pneumologia, Instituto do Coracao - InCor - Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo - HCFMUSP - São Paulo (SP) Brasil
| | | | - Adalberto Sperb Rubin
- . Serviço de Pneumologia, Pavilhão Pereira Filho, Santa Casa de Porto Alegre, Porto Alegre (RS) Brasil
| | - Alexandre Franco Amaral
- . Divisao de Pneumologia, Instituto do Coracao - InCor - Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo - HCFMUSP - São Paulo (SP) Brasil
| | | | | | - Eliane Viana Mancuzo
- . Serviço de Pneumologia e Cirurgia Torácica, Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte (MG) Brasil
| | | | - Mariana Sponholz Araujo
- . Divisão de Pneumologia, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba (PR) Brasil
| | | | - Martina Rodrigues de Oliveira
- . Divisao de Pneumologia, Instituto do Coracao - InCor - Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo - HCFMUSP - São Paulo (SP) Brasil
| | - Tatiana Senna Galvão
- . Hospital Universitário Professor Edgar Santos, Universidade Federal da Bahia, Salvador (BA) Brasil
| | | | - Carlos Roberto Ribeiro Carvalho
- . Divisao de Pneumologia, Instituto do Coracao - InCor - Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo - HCFMUSP - São Paulo (SP) Brasil
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Kilic I, Segura S, Ulbright TM, Mesa H. Immunophenotypic analysis of angiomyolipoma with epithelial cysts, comparison to mixed epithelial and stromal tumors and epithelial and stromal elements of normal kidney and ovaries. Virchows Arch 2025; 486:233-241. [PMID: 38760593 DOI: 10.1007/s00428-024-03827-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/09/2024] [Revised: 05/06/2024] [Accepted: 05/09/2024] [Indexed: 05/19/2024]
Abstract
Angiomyolipoma with epithelial cysts (AMLEC) is a rare variant of renal angiomyolipoma (AML). It is characterized by a conventional AML component admixed with epithelial cysts within an "ovarian-like" stroma. Mixed epithelial and stromal tumor (MEST) is another renal neoplasm featuring epithelial cysts and "ovarian-like" stroma. While there is consensus that in MEST the epithelial and stromal components are neoplastic, in AMLEC it has been hypothesized that the epithelial component may represent renal tubular entrapment or ovarian-like transdifferentiation of tumor cells. The aim of this study was to compare the immunophenotypes of the epithelial-stromal components of AMLEC and MEST, with normal kidney and ovary to provide additional insights into the pathogenesis and relationships of these entities. In this study, we analyzed eight cases of AMLEC and 14 cases of MEST from 2003 to 2023. We used tissue microarrays, full sections, or unstained slides with an immunohistochemical panel including renal and ovarian markers: SF1, ER, PR, AR, PAX8, WT1, GATA3, CA-IX, p16, inhibin A, and BCL2. We compared these cases with ten non-neoplastic ovary and kidney samples. Our findings indicate that the epithelial component of AMLEC and MEST resembles hormone receptor positive renal tubular epithelium (AR + /ER - /PR -). AMLEC's stromal component resembled hormone receptor positive renal stroma, while MEST's resembled ovarian stroma, supporting mullerian transdifferentiation. Our study showed that the epithelial and stromal components of AMLEC and MEST are immunophenotypically different and also differ from normal tissues. Our findings suggest that in AMLEC, the epithelial-stromal component represents a hormonally driven proliferation of non-neoplastic renal elements within a dysregulated tumor microenvironment.
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Affiliation(s)
- Irem Kilic
- Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, 350 W 11Th St, Indianapolis, IN, 46202, USA
| | - Sheila Segura
- Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, 350 W 11Th St, Indianapolis, IN, 46202, USA
| | - Thomas M Ulbright
- Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, 350 W 11Th St, Indianapolis, IN, 46202, USA
| | - Hector Mesa
- Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, 350 W 11Th St, Indianapolis, IN, 46202, USA.
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Fontanges Q, Truffaux N, Azmani R, Bourdon A, Croce S. [Translocation-associated uterine mesenchymal tumors: The new without forgetting the old. An integrated diagnostic approach]. Ann Pathol 2025; 45:53-77. [PMID: 39424447 DOI: 10.1016/j.annpat.2024.09.011] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/10/2024] [Revised: 09/15/2024] [Accepted: 09/16/2024] [Indexed: 10/21/2024]
Abstract
This review focuses on uterine mesenchymal tumors that are defined on a molecular level by a single and unique genetic alteration, that is somehow necessary and sufficient to allow tumor growth and progression. Although diverse from a clinical, morphological and immunohistochemical point of view, the different entities we are going to talk about share both a simple genomic profile with a low number of chromosomal alterations observed by CGH Array (few deletions, gains or amplifications...) and a low mutational burden observed by sequencing technics. Some of these entities are already well known and described in the literature when found outside of the uterus and gynecological tract. It remains intriguing that uterine mesenchymal pathology has been lagging behind when compared to its extrauterine counterpart. How can we explain that when it comes to inflammatory myofibroblastic tumors, abundant numbers of articles have been published since the 70's, but it was only in the early 2000s that the first relevant descriptions of this tumor in the uterus emerged? Certainly, the increased accuracy, availability, and use of molecular biology technics and in particular RNA sequencing in the area of uterine pathology can partly explain the reduction of the gap between soft tissue and uterine pathology we currently observe. Other reasons explaining this gap may be the high prevalence of smooth muscle tumors in the uterus and the abounding diversity of their morphological aspects, which may have partly eclipsed the array of differential diagnoses. Last but not least, one can hypothesize that the relative "simplicity" of hysterectomy procedures, referring to their safety and accessibility, has cured most of the lesions and partly clouded our knowledge regarding the biological potential and natural history of these newly described entities. As a consequence of this situation, our reader will often encounter the wording "uncertain malignant potential", as for some of these rare entities, evidence to establish reliable prognostic variables is still insufficient. We hope this review to be a useful tool to guide pathologists through the diversity and complexity of uterine mesenchymal tumors. As a scientific and medical community, sharing this knowledge will help us to collectively raise our vigilance and awareness by expanding the array of our differential diagnoses. We hope this will lead to more cases being accurately diagnosed, and ultimately, to a deeper knowledge regarding the biological potential and clinical evolution of these tumors. From a therapeutical point of view, the consequences of an accurate diagnosis for the patient are already appreciable through the use of targeted therapy. Examples include: ALK inhibitors in inflammatory myofibroblastic tumor, tyrosine-kinase inhibitors in COL1A::PDGFB rearranged sarcomas or mTOR inhibitors in PEComa.
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Affiliation(s)
- Quitterie Fontanges
- Département de pathologie, cliniques universitaires de Saint-Luc, Bruxelles, Belgique.
| | | | - Rihab Azmani
- Unité bio-informatique, direction données et santé numérique, institut Bergonié, Bordeaux, France
| | - Aurélien Bourdon
- Unité bio-informatique, direction données et santé numérique, institut Bergonié, Bordeaux, France
| | - Sabrina Croce
- Département de biopathologie, institut Bergonié, Bordeaux, France; Unité Inserm 1312, Bordeaux, France
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Afzal A, Tahir MJ, Asghar A, Din IU, Naveed MA. Malignant epithelioid angiomyolipoma of the submandibular gland: A case report. Radiol Case Rep 2024; 19:6333-6338. [PMID: 39387025 PMCID: PMC11461934 DOI: 10.1016/j.radcr.2024.09.027] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/11/2024] [Revised: 09/02/2024] [Accepted: 09/04/2024] [Indexed: 10/12/2024] Open
Abstract
An epithelioid angiomyolipoma (a perivascular epithelioid cell tumor) is a rare mesenchymal neoplasm with distinctive cellular morphology and nonspecific imaging appearances. Mostly reported perivascular epithelioid cell tumors (PEComas) are benign; however, rarely, PEComas can be malignant with pulmonary, hepatic, nodal, and osseous metastases. We present a case of a 40-year-old man with malignant right submandibular salivary gland PEComa, metastasized to the bones, lungs, and liver. We are going to discuss the diagnosis and management options of the rare disease of metastatic PEComa of the submandibular salivary gland.
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Affiliation(s)
- Ayesha Afzal
- Department of Radiology, Shaukat Khanum Memorial Cancer Hospital and Research Center, Lahore, Punjab province, Pakistan
| | - Muhammad Junaid Tahir
- Department of Radiology, Shaukat Khanum Memorial Cancer Hospital and Research Center, Lahore, Punjab province, Pakistan
| | - Asma Asghar
- Department of Radiology, Shaukat Khanum Memorial Cancer Hospital and Research Center, Lahore, Punjab province, Pakistan
| | - Islah Ud Din
- Department of Radiology, Shaukat Khanum Memorial Cancer Hospital and Research Center, Lahore, Punjab province, Pakistan
| | - Muhammad Atif Naveed
- Department of Radiology, Shaukat Khanum Memorial Cancer Hospital and Research Center, Lahore, Punjab province, Pakistan
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13
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Sassi F, Boujelbene N, Abbes I, Naija L, Khessairi N, Mrad K. Multifocal malignant perivascular epithelioid cell tumor (PEComa) of the peritoneum: A case report. Int J Surg Case Rep 2024; 124:110455. [PMID: 39405767 PMCID: PMC11562393 DOI: 10.1016/j.ijscr.2024.110455] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/24/2024] [Revised: 10/10/2024] [Accepted: 10/11/2024] [Indexed: 11/03/2024] Open
Abstract
INTRODUCTION AND IMPORTANCE Neoplasms with perivascular epithelioid-cell differentiation (PEComa) are rare. We present a case of multifocal malignant PEComas arising in the peritoneum. CASE PRESENTATION A 61-year-old woman presented with a painful abdominal mass that had progressed over the past year and recently increased in size. Pelvic magnetic resonance imaging (MRI) showed two masses: an 11-cm partially solid and cystic tumor, with moderate contrast uptake probably originating from the left ovary, and an 18-cm sized, intraperitoneal abdominal heterogeneous enhancing mass. Two nodules in the mesentery and the bladder peritoneum were discovered intraoperatively. The patient underwent Hudson's intervention with resection of the epiploic mass and the two nodules. Microscopic examination revealed a tumor proliferation of epithelioid clear cells with delicate vascular septae. Immunohistochemistry was positive for HMB45, MelanA and SMA. The final diagnosis of a malignant PEComa was retained. The patient developed two local peritoneal recurrences and died after 26 months of follow-up. CLINICAL DISCUSSION Our case is original by its multifocal presentation being the seventh case of a multifocal malignant PEComa reported in the literature. PEComa's clinical presentation and radiographic appearance can often mimic a soft tissue clear cell sarcoma. CONCLUSION Clinical and pathological correlations are mandatory to make a precise diagnosis and adapt the treatment of PEComas.
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Affiliation(s)
- Farah Sassi
- Department of Pathology, Salah Azaiz Institute, Faculty of Medicine, University Tunis El Manar.
| | - Nadia Boujelbene
- Department of Pathology, Salah Azaiz Institute, Faculty of Medicine, University Tunis El Manar
| | - Imen Abbes
- Department of Pathology, Salah Azaiz Institute, Faculty of Medicine, University Tunis El Manar
| | - Lamia Naija
- Department of Surgical Oncology, Salah Azaiez Institute, Tunis, Tunisia
| | - Nayssem Khessairi
- Department of Surgical Oncology, Salah Azaiez Institute, Tunis, Tunisia
| | - Karima Mrad
- Department of Pathology, Salah Azaiz Institute, Faculty of Medicine, University Tunis El Manar
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Hammer PM, Toland A, Shaheen M, Shenoy A, Esnakula A, Hicks MJ, Warran M, Al-Ibraheemi A, Davis JL, Tan SY. Perivascular Epithelioid Cell-Family Tumors in Children, Adolescents, and Young Adults: Clinicopathologic Features in 70 Cases. Arch Pathol Lab Med 2024; 148:e374-e385. [PMID: 38547914 DOI: 10.5858/arpa.2023-0552-oa] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 01/05/2024] [Indexed: 10/29/2024]
Abstract
CONTEXT.— Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors of uncertain histogenesis expressing smooth muscle and melanocytic markers. The clinicopathologic spectrum in young patients is not well documented. OBJECTIVE.— To describe a multi-institutional series of PEComas in children, adolescents, and young adults. DESIGN.— PEComas, not otherwise specified (NOS); angiomyolipomas (AMLs); lymphangioleiomyomatosis; and clear cell sugar tumors were retrospectively identified from 6 institutions and the authors' files. RESULTS.— Seventy PEComas in 64 patients (median age, 15 years) were identified. They were more common in females (45 of 64 patients), occurring predominantly in the kidney (53 of 70), followed by the liver (6 of 70). Thirty-four patients had confirmed tuberous sclerosis complex (TSC), 3 suspected TSC mosaicism, 2 Li-Fraumeni syndrome (LFS) and 1 neurofibromatosis type 1. Most common variants were classic (49 of 70) and epithelioid (8 of 70) AML. Among patients with AMLs, most (34 of 47) had TSC, and more TSC patients had multiple AMLs (15 of 36) than non-TSC patients (2 of 13). Two TSC patients developed malignant transformation of classic AMLs: 1 angiosarcomatous and 1 malignant epithelioid. Lymphangioleiomyomatosis (5 of 70) occurred in females only, usually in the TSC context (4 of 5). PEComas-NOS (6 of 70) occurred exclusively in non-TSC patients, 2 of whom had LFS (2 of 6). Three were malignant, 1 had uncertain malignant potential, and 2 were benign. All 4 PEComas-NOS in non-LFS patients had TFE3 rearrangements. CONCLUSIONS.— Compared to the general population, TSC was more prevalent in our cohort; PEComas-NOS showed more frequent TFE3 rearrangements and possible association with LFS. This series expands the spectrum of PEComas in young patients and demonstrates molecular features and germline contexts that set them apart from older patients.
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Affiliation(s)
- Phoebe M Hammer
- From the Department of Pathology, Stanford University School of Medicine, Stanford, California (Hammer, Tan)
| | - Angus Toland
- the Department of Pathology, Texas Children's Hospital, Baylor College of Medicine, Houston (Toland, Hicks)
| | - Muhammad Shaheen
- the Department of Pathology, Indiana University School of Medicine, Indianapolis (Shaheen, Davis)
| | - Archana Shenoy
- the Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio (Shenoy)
- the Department of Pathology, The Ohio State University College of Medicine, Columbus (Shenoy, Esnakula)
| | - Ashwini Esnakula
- the Department of Pathology, The Ohio State University College of Medicine, Columbus (Shenoy, Esnakula)
| | - M John Hicks
- the Department of Pathology, Texas Children's Hospital, Baylor College of Medicine, Houston (Toland, Hicks)
| | - Mikako Warran
- the Department of Pathology, Children's Hospital Los Angeles, University of Southern California, Los Angeles (Warran)
| | - Alyaa Al-Ibraheemi
- the Department of Pathology, Boston Children's Hospital, Boston, Massachusetts (Al-Ibraheemi)
| | - Jessica L Davis
- the Department of Pathology, Indiana University School of Medicine, Indianapolis (Shaheen, Davis)
| | - Serena Y Tan
- From the Department of Pathology, Stanford University School of Medicine, Stanford, California (Hammer, Tan)
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Yang HT, Wang FR, He N, She YH, Du YY, Shi WG, Yang J, Chen G, Zhang SZ, Cui F, Long B, Yu ZY, Zhu JM, Zhang GY. Massive simultaneous hepatic and renal perivascular epithelioid cell tumor benefitted from surgery and everolimus treatment: A case report. World J Gastrointest Surg 2024; 16:3334-3342. [PMID: 39575269 PMCID: PMC11577393 DOI: 10.4240/wjgs.v16.i10.3334] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/03/2024] [Revised: 08/25/2024] [Accepted: 08/28/2024] [Indexed: 09/27/2024] Open
Abstract
BACKGROUND Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal neoplasm that predominantly affects the kidney and uterus. The occurrence of this tumor in the liver, particularly with simultaneous involvement of the liver and kidney, is exceedingly uncommon. Pathological diagnosis is the gold standard. PEComas usually show positive immunohistochemical staining for melanocytic (HMB-45, Melan-A) and myoid (SMA, muscle-specific actin) markers. CASE SUMMARY We presented a noteworthy case of malignant PEComa affecting both the liver and kidney in a 53-year-old man with tuberous sclerosis complex (TSC). FAT2 and TP73 mutations in the kidney were identified and positive expression of diagnostic markers including HMB-45, Melan A, and TFE3 were detected. In addition, we demonstrated that hepatic artery perfusion chemotherapy was ineffective for hepatic PEComa, while surgery remained the most effective approach. Everolimus showed an excellent efficacy in the postoperative treatment of the tumor. CONCLUSION Surgical treatment is preferred for malignant PEComa affecting liver and kidney, especially with TSC; everolimus is effective postoperatively.
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Affiliation(s)
- Han-Teng Yang
- Department of General Surgery, Lanzhou University Second Hospital, Lanzhou 730030, Gansu Province, China
| | - Fu-Rong Wang
- Department of Pathology, Lanzhou University Second Hospital, Lanzhou 730030, Gansu Province, China
| | - Na He
- Oncology Department Ward, Lanzhou University Second Hospital, Lanzhou 730030, Gansu Province, China
| | - Yuan-Hua She
- Department of General Surgery, Lanzhou University Second Hospital, Lanzhou 730030, Gansu Province, China
| | - Yong-Yue Du
- Department of General Surgery, Lanzhou University Second Hospital, Lanzhou 730030, Gansu Province, China
| | - Wen-Gui Shi
- Cuiying Biomedical Research Center, Lanzhou University Second Hospital, Lanzhou 730030, Gansu Province, China
| | - Jing Yang
- Cuiying Biomedical Research Center, Lanzhou University Second Hospital, Lanzhou 730030, Gansu Province, China
| | - Gang Chen
- Department of General Surgery, Lanzhou University Second Hospital, Lanzhou 730030, Gansu Province, China
| | - Shu-Ze Zhang
- Department of General Surgery, Lanzhou University Second Hospital, Lanzhou 730030, Gansu Province, China
| | - Feng Cui
- Department of General Surgery, Lanzhou University Second Hospital, Lanzhou 730030, Gansu Province, China
| | - Bo Long
- Department of General Surgery, Lanzhou University Second Hospital, Lanzhou 730030, Gansu Province, China
| | - Ze-Yuan Yu
- Department of General Surgery, Lanzhou University Second Hospital, Lanzhou 730030, Gansu Province, China
| | - Jun-Min Zhu
- Department of General Surgery, Lanzhou University Second Hospital, Lanzhou 730030, Gansu Province, China
| | - Geng-Yuan Zhang
- Department of General Surgery, Lanzhou University Second Hospital, Lanzhou 730030, Gansu Province, China
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Jones VM, Thompson LDR, Pettus JR, Green DC, Lefferts JA, Shah PS, Tsongalis GJ, Sajed DP, Guilmette JM, Lewis JS, Fisch AS, Tafe LJ, Kerr DA. Angiomyolipomatous Lesions of the Nasal Cavity (Sinonasal Angioleiomyoma with Adipocytic Differentiation): A Multi-Institutional Immunohistochemical and Molecular Study. Head Neck Pathol 2024; 18:93. [PMID: 39400771 PMCID: PMC11473525 DOI: 10.1007/s12105-024-01700-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/01/2024] [Accepted: 08/31/2024] [Indexed: 10/15/2024]
Abstract
PURPOSE Mesenchymal neoplasms composed of vascular, smooth muscle, and adipocytic components are uncommon in the nasal cavity. While angioleiomyoma (AL) is a smooth muscle tumor in the Head & Neck WHO classification, it is considered of pericytic origin in the Skin as well as Soft Tissue and Bone classifications. For nasal AL with an adipocytic component, the terms AL with adipocytic differentiation and angiomyolipoma (AML) have been applied, among others. AML is a type of perivascular epithelioid cell tumor (PEComa), most often arising in the kidney, sometimes associated with the tuberous sclerosis complex (TSC). It is uncertain whether nasal cavity AML and AL are best considered hamartomas or neoplasms, as their genetics are largely unexplored. METHODS We performed a multi-institutional retrospective study of nasal cavity mesenchymal lesions. Patient demographics, clinical histories, and histologic and immunohistochemical findings were collected. DNA and RNA were extracted from formalin-fixed, paraffin-embedded tissue and analyzed by SNP-based chromosomal microarray, targeted RNA fusion sequencing, and whole-exome sequencing. RESULTS Fifteen lesions (3-42 mm) were identified, predominantly in male (87%) patients with a median age of 60. Patients typically presented with obstructive symptoms, and none had a history of TSC. One AL was a recurrence from six years prior; 11 cases showed no recurrence (median 4.7 years, range: 0.88-12.4). Morphologically, 11 AML contained 30-80% smooth muscle, 10-25% vasculature, and 2-60% adipose tissue, while four AL contained 70-80% smooth muscle and 20-30% vasculature. Other histologic observations included ulceration, thrombosis, inflammation, myxoid change, senescent nuclei, and extramedullary hematopoiesis; no well-developed epithelioid cell morphology was identified. Immunohistochemically, all cases were positive for smooth muscle markers (actin, desmin, and/or caldesmon) and negative for melanocytic markers. Molecular analysis revealed loss of 3p and 11q in a single AML. No other known pathogenic copy number or molecular alterations were seen, including in TSC1/2, TFE3, or NOTCH2. CONCLUSION Nasal cavity AML lacks morphologic, immunophenotypic, and genetic features of PEComa family AML. The significant histologic overlap between nasal AML and AL without distinguishing molecular features in either entity suggests "sinonasal angioleiomyoma with adipocytic differentiation" may be the most appropriate terminology for hybrid vascular and smooth muscle lesions containing adipocytic components.
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Affiliation(s)
- Victoria M Jones
- Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA
- Geisel School of Medicine at Dartmouth, Hanover, NH, USA
| | | | - Jason R Pettus
- Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA
- Geisel School of Medicine at Dartmouth, Hanover, NH, USA
| | - Donald C Green
- Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA
| | - Joel A Lefferts
- Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA
- Geisel School of Medicine at Dartmouth, Hanover, NH, USA
| | - Parth S Shah
- Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA
- Geisel School of Medicine at Dartmouth, Hanover, NH, USA
| | - Gregory J Tsongalis
- Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA
- Geisel School of Medicine at Dartmouth, Hanover, NH, USA
| | - Dipti P Sajed
- Department of Pathology and Laboratory Medicine, University of California, Los Angeles, Los Angeles, CA, USA
| | - Julie M Guilmette
- Department of Pathology, Hôpital Charles-Lemoyne, Faculty of Medicine and Health Sciences, University of Sherbrooke, Greenfield Park, QC, Canada
| | - James S Lewis
- Department of Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA
- Department of Laboratory Medicine and Pathology, Mayo Clinic Arizona, Scottsdale, AZ, USA
| | - Adam S Fisch
- Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA
| | - Laura J Tafe
- Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA
- Geisel School of Medicine at Dartmouth, Hanover, NH, USA
| | - Darcy A Kerr
- Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.
- Geisel School of Medicine at Dartmouth, Hanover, NH, USA.
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Caliò A, Marletta S, Brunelli M, Antonini P, Martelli FM, Marcolini L, Stefanizzi L, Martignoni G. TFE3-Rearranged Tumors of the Kidney: An Emerging Conundrum. Cancers (Basel) 2024; 16:3396. [PMID: 39410016 PMCID: PMC11475521 DOI: 10.3390/cancers16193396] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/05/2024] [Revised: 09/29/2024] [Accepted: 10/02/2024] [Indexed: 10/20/2024] Open
Abstract
Background: Identical translocations involving the TFE3 gene and various partners have been found in both renal and soft tissue tumors, like alveolar soft part sarcoma (ASPSCR1), ossifying fibromyxoid tumor (PHF1), epithelioid hemangioendothelioma, and the clear cell stromal tumor of the lung (YAP1). Methods: Herein, we review in detail the clinicopathologic and molecular data of TFE3-rearranged renal tumors and propose our perspective, which may shed light on this emerging conundrum. Results: Among the kidney tumors carrying TFE3 translocations, most are morphologically heterogeneous carcinomas labeling for the tubular marker PAX8. The others are mesenchymal neoplasms known as PEComas, characterized by epithelioid cells co-expressing smooth muscle actin, cathepsin-K, melanogenesis markers, and sometimes melanin pigment deposition. Over the past 30 years, numerous TFE3 fusion partners have been identified, with ASPL/ASPSCR1, PRCC, SFPQ/PSF, and NONO being the most frequent. Conclusions: It is not well understood why similar gene fusions can give rise to renal tumors with different morpho-immunophenotypes, which may contribute to the recent disagreement regarding their classification. However, as these two entities, respectively, epithelial and mesenchymal in nature, are widely recognized by the pathology community and their clinicopathologic features well established, we overall believe it is still better to retain the names TFE3-rearranged renal cell carcinoma and TFE3-rearranged PEComa.
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Affiliation(s)
- Anna Caliò
- Department of Diagnostics and Public Health, Section of Pathology, University of Verona, 37134 Verona, Italy; (A.C.); (S.M.); (M.B.); (P.A.); (F.M.M.)
| | - Stefano Marletta
- Department of Diagnostics and Public Health, Section of Pathology, University of Verona, 37134 Verona, Italy; (A.C.); (S.M.); (M.B.); (P.A.); (F.M.M.)
- Division of Pathology, Humanitas Istituto Clinico Catanese, 95045 Catania, Italy
| | - Matteo Brunelli
- Department of Diagnostics and Public Health, Section of Pathology, University of Verona, 37134 Verona, Italy; (A.C.); (S.M.); (M.B.); (P.A.); (F.M.M.)
| | - Pietro Antonini
- Department of Diagnostics and Public Health, Section of Pathology, University of Verona, 37134 Verona, Italy; (A.C.); (S.M.); (M.B.); (P.A.); (F.M.M.)
| | - Filippo Maria Martelli
- Department of Diagnostics and Public Health, Section of Pathology, University of Verona, 37134 Verona, Italy; (A.C.); (S.M.); (M.B.); (P.A.); (F.M.M.)
| | - Lisa Marcolini
- Department of Pathology, Pederzoli Hospital, 37019 Peschiera del Garda, Italy; (L.M.); (L.S.)
| | - Lavinia Stefanizzi
- Department of Pathology, Pederzoli Hospital, 37019 Peschiera del Garda, Italy; (L.M.); (L.S.)
| | - Guido Martignoni
- Department of Diagnostics and Public Health, Section of Pathology, University of Verona, 37134 Verona, Italy; (A.C.); (S.M.); (M.B.); (P.A.); (F.M.M.)
- Department of Pathology, Pederzoli Hospital, 37019 Peschiera del Garda, Italy; (L.M.); (L.S.)
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18
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Jones VM, Thompson LDR, Pettus JR, Green DC, Lefferts JA, Shah PS, Tsongalis GJ, Sajed DP, Guilmette JM, Lewis JS, Fisch AS, Tafe LJ, Kerr DA. Angiomyolipomatous Lesions of the Nasal Cavity (Sinonasal Angioleiomyoma with Adipocytic Differentiation): A Multi-Institutional Immunohistochemical and Molecular Study. RESEARCH SQUARE 2024:rs.3.rs-4843357. [PMID: 39281855 PMCID: PMC11398573 DOI: 10.21203/rs.3.rs-4843357/v1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 09/18/2024]
Abstract
Purpose Mesenchymal neoplasms composed of vascular, smooth muscle, and adipocytic components are uncommon in the nasal cavity. While angioleiomyoma (AL) is a smooth muscle tumor in the Head & Neck WHO classification, it is considered of pericytic origin in the Skin as well as Soft Tissue and Bone classifications. For nasal AL with an adipocytic component, the terms AL with adipocytic differentiation and angiomyolipoma (AML) have been applied, among others. AML is a type of perivascular epithelioid cell tumor (PEComa), most often arising in the kidney, sometimes associated with the tuberous sclerosis complex (TSC). It is uncertain whether nasal cavity AML and AL are best considered hamartomas or neoplasms, as their genetics are largely unexplored. Methods We performed a multi-institutional retrospective study of nasal cavity mesenchymal lesions. Patient demographics, clinical histories, and histologic and immunohistochemical findings were collected. DNA and RNA were extracted from formalin-fixed, paraffin-embedded tissue and analyzed by SNP-based chromosomal microarray, targeted RNA fusion sequencing, and whole-exome sequencing. Results Fifteen lesions (3 to 42 mm) were identified predominantly in male (87%) patients with a median age of 60. Patients typically presented with obstructive symptoms, and none had a history of TSC. One AL was a recurrence from six years prior; 11 cases showed no recurrence (median 4.7 years, range: 0.88-12.4). Morphologically, 11 AMLs contained 30-80% smooth muscle, 10-25% vasculature, and 2-60% adipose tissue, while four ALs contained 70-80% smooth muscle and 20-30% vasculature. Other histologic observations included surface ulceration, vascular thrombosis, chronic inflammation, and myxoid change; no well-developed epithelioid cell morphology was identified. Immunohistochemically, all cases were positive for smooth muscle markers (actin and/or desmin) and negative for melanocytic markers. Molecular analysis revealed loss of 3p and 11q in a single AML. No other known pathogenic copy number or molecular alterations were seen, including in TSC1/2, TFE3, or NOTCH2. Conclusion Nasal cavity AML lacks morphologic, immunophenotypic, and genetic features of PEComa family AMLs. The significant histologic overlap between nasal AML and AL without distinguishing molecular features in either entity suggests "sinonasal angioleiomyoma with adipocytic differentiation" may be the most appropriate terminology for hybrid vascular and smooth muscle lesions containing adipocytic components.
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Affiliation(s)
| | | | | | | | | | | | | | | | | | | | - Adam S Fisch
- Massachusetts General Hospital, Harvard Medical School
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Kabeya C, Lancelle M, Demolin G, Wattier C, Marchisello C, Buonomo A, Fonseca S. Challenges in Diagnosing Metastatic Uterine PEComa: Insights from Two Case Studies. AMERICAN JOURNAL OF CASE REPORTS 2024; 25:e944365. [PMID: 39175175 PMCID: PMC11348820 DOI: 10.12659/ajcr.944365] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/04/2024] [Revised: 07/08/2024] [Accepted: 06/07/2024] [Indexed: 08/24/2024]
Abstract
BACKGROUND Perivascular epithelioid cell tumor (PEComa) is usually a benign perivascular tumor that expresses both melanocytic and myogenic cell markers. We report 2 cases of advanced malignant uterine perivascular epithelioid cell tumor (PEComa) in a 74-year-old woman and a 50-year-old woman undergoing surgery in our center. CASE REPORT Case 1: A 74-year-old woman presented with a painful and massive abdominal mass. The imaging revealed a 19-cm necrotic mass close to the mesentery, a suspicious lesion in the uterus, and a probable liver metastasis. The pathological diagnosis was quite difficult with mixed features of leiomyosarcoma and PEComa with an uncommon immunohistochemistry staining pattern. Therefore, we gave a diagnosis of sarcoma with PEComa-like features. Case 2: A 50-year-old woman with metrorrhagia and abdominal pain. Imaging revealed a 7-cm mass in the uterus and suspicious metastatic lesions in the lung and the liver. The immunohistochemistry pattern was typical, with a strong positivity of Human Melanoma Black-45 (HMB-45) and focal positivity of H-Caldesmon. The patient benefited from targeted adjuvant therapy (MTOR inhibitor-based), with 8-month a follow-up showing no recurrence for this Grade IV PEComa mutated for TP53, ATRX, and TSC1. CONCLUSIONS We have report 2 cases of metastatic PEComa with different clinicopathological features. An overlap remains between characteristics of PEComas and smooth-muscle tumors. At present, there are no known pathognomonic findings or specific diagnostic markers.
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Affiliation(s)
- Cédric Kabeya
- Department of Gynaecology, Tivoli Hospital, La Louvière, Belgium
| | | | | | - Céline Wattier
- Department of Gynaecology, Tivoli Hospital, La Louvière, Belgium
| | | | - Antonino Buonomo
- Department of Gynaecology, Tivoli Hospital, La Louvière, Belgium
| | - Sandhya Fonseca
- Department of Anatomopathology, Epicura Hospital, Hornu, Belgium
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20
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Zaidi A, Chatterjee D, Bhargav V, Gupta V, Das A. Clear cell myomelanocytic tumor of ligamentum teres. Autops Case Rep 2024; 14:e2024503. [PMID: 39021472 PMCID: PMC11253914 DOI: 10.4322/acr.2024.503] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/28/2024] [Accepted: 05/03/2024] [Indexed: 07/20/2024]
Abstract
Clear cell myomelanocytic tumor (CCMMT) of the falciform ligament/ligamentum teres is a rare hepatic tumor, a variant of the perivascular epithelioid cell tumor (PEComa) family. CCMMT is the rarest variant of hepatic PEComas. Only a few cases of CCMMT have been reported in the English literature. Because of its rarity, less is known about its biological behavior. We present a case of a 31-year-old female who complained of abdominal pain, bilious vomiting, and abdominal fullness over two months. The radiological impression was of focal nodular hyperplasia. The histological examination of the resection specimen revealed a well-circumscribed tumor arranged in fascicles, sheets, and a whorling pattern. The tumor cells were spindle to epithelioid shaped with abundant clear to pale eosinophilic cytoplasm. The tumor cells expressed both myoid (smooth muscle actin) and melanocytic (MelanA and HMB45) markers, while they were negative for hepatocytic and vascular markers. Thus, based on histology and immunohistochemistry, a diagnosis of CCMMT was made. This case presents the diagnostic challenges of CCMMT and discusses the differential diagnosis with a literature review.
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Affiliation(s)
- Ariba Zaidi
- Dr Ram Manohar Lohia Institute of Medical Sciences, Department of Pathology, Lucknow, Uttar Pradesh, India
| | - Debajyoti Chatterjee
- Post Graduate Institute of Medical Education and Research, Department of Histopathology, Chandigarh, India
| | - Venu Bhargav
- Post Graduate Institute of Medical Education and Research, Department of General Surgery, Chandigarh, India
| | - Vikas Gupta
- Post Graduate Institute of Medical Education and Research, Department of General Surgery, Chandigarh, India
| | - Ashim Das
- Post Graduate Institute of Medical Education and Research, Department of Histopathology, Chandigarh, India
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Ono Y, Okubo Y, Washimi K, Mikayama Y, Doiuch T, Hasegawa C, Yoshioka E, Ono K, Shiozawa M, Yokose T. Primary omental smooth muscle tumor in an adult male: a diagnostic dilemma for leiomyoma: a case report. J Med Case Rep 2024; 18:222. [PMID: 38704583 PMCID: PMC11070120 DOI: 10.1186/s13256-024-04537-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/14/2023] [Accepted: 04/02/2024] [Indexed: 05/06/2024] Open
Abstract
BACKGROUND The greater omentum comprises peritoneal, adipose, vascular, and lymphoid tissues. Most omental malignancies are metastatic tumors, and the incidence of primary tumors is rare. We report on a prior omental smooth muscle tumor case in an adult male patient. CASE PRESENTATION A 54-year-old Japanese male patient with no relevant medical history was diagnosed with an abdominal mass during a routine medical checkup. Subsequent contrast-enhanced computed tomography revealed a mass of approximately 3 cm in size in the greater omentum, and a laparotomy was performed. A 27 × 25 × 20 mm raised lesion was found in the omentum. Microscopically, spindle cells were observed and arranged in whorls and fascicles. Individual tumor cells had short spindle-shaped nuclei with slightly increased chromatin and were characterized by a slightly eosinophilic, spindle-shaped cytoplasm. The mitotic count was less than 1 per 50 high-power fields. The tumor cells showed positive immunoreactivity for α smooth muscle actin, HHF35, and desmin on immunohistochemical examination. The Ki-67 labeling index using the average method was 1.76% (261/14806). No immunoreactivity was observed for any of the other tested markers. We considered leiomyoma owing to a lack of malignant findings. However, primary omental leiomyoma has rarely been reported, and it can be difficult to completely rule out the malignant potential of smooth muscle tumors in soft tissues. Our patient was decisively diagnosed with a primary omental smooth muscle tumor considering leiomyoma. Consequently, the patient did not undergo additional adjuvant therapy and was followed up. The patient was satisfied with treatment and showed neither recurrence nor metastasis at the 13-month postoperative follow-up. DISCUSSION AND CONCLUSION We encountered a primary smooth muscle tumor of the greater omentum with no histological findings suggestive of malignancy in an adult male patient. However, omental smooth muscle tumors are extremely difficult to define as benign, requiring careful diagnosis. Further case reports with long-term follow-up and case series are required to determine whether a true omental benign smooth muscle tumor (leiomyoma) exists. In addition, proper interpretation of the Ki-67 labeling index should be established. This case study is a foundation for future research.
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Affiliation(s)
- Yukari Ono
- Department of Pathology, Kanagawa Cancer Center, 2-3-2, Nakao, Asahi-Ku, Yokohama, Kanagawa, 241-8515, Japan
- Department of Gastrointestinal Surgery, Kanagawa Cancer Center, 2-3-2, Nakao, Asahi-Ku, Yokohama, Kanagawa, 241-8515, Japan
| | - Yoichiro Okubo
- Department of Pathology, Kanagawa Cancer Center, 2-3-2, Nakao, Asahi-Ku, Yokohama, Kanagawa, 241-8515, Japan.
| | - Kota Washimi
- Department of Pathology, Kanagawa Cancer Center, 2-3-2, Nakao, Asahi-Ku, Yokohama, Kanagawa, 241-8515, Japan
| | - Yo Mikayama
- Department of Gastrointestinal Surgery, Kanagawa Cancer Center, 2-3-2, Nakao, Asahi-Ku, Yokohama, Kanagawa, 241-8515, Japan
| | - Tsunehiro Doiuch
- Department of Diagnostic and Interventional Radiology, Kanagawa Cancer Center, 2-3-2, Nakao, Asahi-Ku, Yokohama, Kanagawa, 241-8515, Japan
| | - Chie Hasegawa
- Department of Pathology, Kanagawa Cancer Center, 2-3-2, Nakao, Asahi-Ku, Yokohama, Kanagawa, 241-8515, Japan
| | - Emi Yoshioka
- Department of Pathology, Kanagawa Cancer Center, 2-3-2, Nakao, Asahi-Ku, Yokohama, Kanagawa, 241-8515, Japan
| | - Kyoko Ono
- Department of Pathology, Kanagawa Cancer Center, 2-3-2, Nakao, Asahi-Ku, Yokohama, Kanagawa, 241-8515, Japan
| | - Manabu Shiozawa
- Department of Pathology, Kanagawa Cancer Center, 2-3-2, Nakao, Asahi-Ku, Yokohama, Kanagawa, 241-8515, Japan
| | - Tomoyuki Yokose
- Department of Pathology, Kanagawa Cancer Center, 2-3-2, Nakao, Asahi-Ku, Yokohama, Kanagawa, 241-8515, Japan
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22
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Yan S, Lu JJ, Chen L, Cai WH, Wu JZ. Hepatic perivascular epithelioid cell tumors: The importance of preoperative diagnosis. World J Gastroenterol 2024; 30:1926-1933. [PMID: 38659487 PMCID: PMC11036502 DOI: 10.3748/wjg.v30.i13.1926] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/22/2024] [Revised: 03/17/2024] [Accepted: 03/19/2024] [Indexed: 04/03/2024] Open
Abstract
Accurate preoperative diagnosis is highly important for the treatment of perivascular epithelioid cell tumors (PEComas) because PEComas are mainly benign tumors and may not require surgical intervention. By analyzing the causes, properties and clinical manifestations of PEComas, we summarize the challenges and solutions in the diagnosis of PEComas.
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Affiliation(s)
- Shuai Yan
- Department of Medical School, Nantong University, Nantong 226300, Jiangsu Province, China
- Department of Hepatobiliary Surgery, Affiliated Nantong Hospital 3 of Nantong University, Nantong 226006, Jiangsu Province, China
| | - Jia-Jie Lu
- Department of Medical School, Nantong University, Nantong 226300, Jiangsu Province, China
- Department of Hepatobiliary Surgery, Affiliated Nantong Hospital 3 of Nantong University, Nantong 226006, Jiangsu Province, China
| | - Lin Chen
- Nantong Institute of Liver Disease, Affiliated Nantong Hospital 3 of Nantong University, Nantong 226006, Jiangsu Province, China
| | - Wei-Hua Cai
- Department of Medical School, Nantong University, Nantong 226300, Jiangsu Province, China
- Department of Hepatobiliary Surgery, Affiliated Nantong Hospital 3 of Nantong University, Nantong 226006, Jiangsu Province, China
| | - Jin-Zhu Wu
- Department of Medical School, Nantong University, Nantong 226300, Jiangsu Province, China
- Department of Hepatobiliary Surgery, Affiliated Nantong Hospital 3 of Nantong University, Nantong 226006, Jiangsu Province, China
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23
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Yang Y, Lee J, Woo CG, Lee OJ, Son SM. Epithelioid angiomyolipoma of the liver in a patient with Li-Fraumeni syndrome: a case report. Diagn Pathol 2024; 19:16. [PMID: 38243242 PMCID: PMC10797712 DOI: 10.1186/s13000-023-01418-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/27/2023] [Accepted: 11/17/2023] [Indexed: 01/21/2024] Open
Abstract
BACKGROUND Epithelioid angiomyolipoma (EAML) is a rare variant of angiomyolipoma that predominantly consists of epithelioid cells and belongs to the perivascular epithelioid cell neoplasm (PEComa) family. The majority of EAMLs arise in the kidneys, and primary hepatic EAML appears to be much less common than renal EAML. Most PEComas arise sporadically, but may be associated with tuberous sclerosis complex (TSC), an autosomal dominant genetic disorder characterized by germline mutations in the TSC1 or TSC2 genes. However, PEComas have previously been reported in five patients with Li-Fraumeni syndrome (LFS), which is an inherited cancer susceptibility disorder resulting from germline mutations in the TP53 tumor suppressor gene. CASE PRESENTATION We report a 49-year-old female patient with hepatic EAML and pancreatic cancer. Because she had previously been diagnosed with bilateral breast cancer at the age of 30, we performed a comprehensive genetic analysis to identify genetic alterations associated with any cancer predisposition syndrome. Whole-exome sequencing of a blood sample identified a heterozygous germline variant of TP53 (NM_000546.5):c.708C>A, and targeted next-generation sequencing of liver EAML and pancreatic cancer tissue samples demonstrated the same TP53 (NM_000546.5):c.708C>A variant in both. This, plus the patient's history of early-onset breast cancer, met the 2015 version of the Chompret criteria for diagnosis of LFS. CONCLUSIONS There have been very few case reports regarding the presence of PEComa in LFS, and to the best of our knowledge, this is the first report of EAML of the liver in a patient with LFS.
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Affiliation(s)
- Yaewon Yang
- Departments of Internal Medicine, Chungbuk National University Hospital, Chungbuk National University College of Medicine, Cheongju, Republic of Korea
| | - Jisun Lee
- Department of Radiology, Chungbuk National University Hospital, Chungbuk National University College of Medicine, Cheongju, Republic of Korea
| | - Chang Gok Woo
- Department of Pathology, Chungbuk National University Hospital, Chungbuk National University College of Medicine, 1, Chungdae-Ro, Seowon-Gu, Cheongju, 28644, Republic of Korea
| | - Ok-Jun Lee
- Department of Pathology, Chungbuk National University Hospital, Chungbuk National University College of Medicine, 1, Chungdae-Ro, Seowon-Gu, Cheongju, 28644, Republic of Korea
| | - Seung-Myoung Son
- Department of Pathology, Chungbuk National University Hospital, Chungbuk National University College of Medicine, 1, Chungdae-Ro, Seowon-Gu, Cheongju, 28644, Republic of Korea.
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24
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Yazıcı C, Gündoğdu E. Very Rare Liver Tumor: PEComa Case Report with and a Review of Literature. Indian J Radiol Imaging 2024; 34:172-176. [PMID: 38106859 PMCID: PMC10723948 DOI: 10.1055/s-0043-1774392] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/19/2023] Open
Abstract
Perivascular epithelioid cell tumors (PEComas) are very rare mesenchymal tumors. In addition to being rare in general, they are even rarer in the liver. There are various subtypes and there is only one case of liver PEComa reported in the clear cell type in the literature to date. We present the second clear cell type liver PEComa in this case by reviewing the literature data. The hypodense, smooth-edged, ovoid lesion was detected on computed tomography (CT) for performing abdominal pain in a 41-year-old female patient. Magnetic resonance imaging (MRI) was then performed for lesion characterization. The lesion was hypointense on T1-weighted imaging (T1WI), hyperintense on T2-weighted imaging (T2WI). In dynamic phases, it showed marked enhancement on the arterial phase and capsular enhancement with central washout on the portal and late venous phases. The posterior branch of the right portal vein extended into the mass. The lesion was excised and the pathological result was epithelioid clear cell subtype of PEComa. Although the imaging findings are generally nonspecific and certain diagnosis is made histopathologically, radiologists should consider PEComa in the differential diagnosis in the presence of intensely enhanced lesion on the right lobe in female patients. Also, the "large vessel sign" may help in the diagnosis.
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Affiliation(s)
- Celal Yazıcı
- Department of Radiology, Eskişehir Osmangazi University, Faculty of Medicine, Eskişehir, Turkey
| | - Elif Gündoğdu
- Department of Radiology, Eskişehir Osmangazi University, Faculty of Medicine, Eskişehir, Turkey
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25
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Nogueira Sixto M, Carracedo Iglesias R, Estévez Fernández S, Rodríguez Pereira C, Sánchez Santos R. Pancreatic PEComa, a not so uncommon neoplasm? Systematic review and therapeutic update. GASTROENTEROLOGIA Y HEPATOLOGIA 2024; 47:93-100. [PMID: 37230381 DOI: 10.1016/j.gastrohep.2023.05.009] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 03/29/2023] [Revised: 05/12/2023] [Accepted: 05/18/2023] [Indexed: 05/27/2023]
Abstract
Pancreatic PEComas are extremely rare neoplasms with malignant potential, which mostly affect middle-aged women and are characterized by presenting melanocytic and myogenic markers in immunohistochemical analysis. There are no symptoms or pathognomonic imaging tests, so the diagnosis is established with the analysis of the surgical specimen or the FNA obtained with preoperative endoscopic ultrasound. The mean treatment consists on radical excision, adapting the intervention to the location of the tumor. To date, 34 cases have been described; however, more than 80% of them have been reported in the last decade, which suggests that it is a more frequent pathology than expected. A new case of pancreatic PEComa is reported and a systematic review of the literature is carried out according to the PRISMA guidelines with the aim of divulge this pathology, deepening its knowledge and updating its management.
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Affiliation(s)
- Manuel Nogueira Sixto
- Servicio de Cirugía General y del Aparato Digestivo, Complejo Hospitalario Universitario de Vigo, Vigo, Galicia, España.
| | - Roberto Carracedo Iglesias
- Servicio de Cirugía General y del Aparato Digestivo, Complejo Hospitalario Universitario de Vigo, Vigo, Galicia, España
| | - Sergio Estévez Fernández
- Servicio de Cirugía General y del Aparato Digestivo, Complejo Hospitalario Universitario de Vigo, Vigo, Galicia, España
| | - Carlos Rodríguez Pereira
- Servicio de Anatomía Patológica, Complejo Hospitalario Universitario de Vigo, Vigo, Galicia, España
| | - Raquel Sánchez Santos
- Servicio de Cirugía General y del Aparato Digestivo, Complejo Hospitalario Universitario de Vigo, Vigo, Galicia, España
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26
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Yang W, Sun Q, Shang M, Li S, Hu X, Hu X. Multimodal imaging study of hepatic perivascular epithelioid cell tumors: a case report. Front Med (Lausanne) 2023; 10:1322048. [PMID: 38173942 PMCID: PMC10762310 DOI: 10.3389/fmed.2023.1322048] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/15/2023] [Accepted: 11/27/2023] [Indexed: 01/05/2024] Open
Abstract
Hepatic perivascular epithelioid cell tumors (PEComas) are rare interstitial tumors that are often misdiagnosed as hepatocellular carcinomas due to their unique vascular enhancement patterns. Herein, we present a case of a 61-year-old man who was incidentally found to have a lesion in the left medial segment of the liver during a chest computed tomography (CT) examination performed 4 days prior to his presentation for chest discomfort. Imaging revealed solid components with density similar to that of normal liver tissue and areas of low-density adipose tissue within the lesion. The solid components exhibited increased uptake of fluorine-18 fluorodeoxyglucose on positron emission tomography/CT. Magnetic resonance imaging demonstrated areas with unevenly high signal intensity in both T1-weighted imaging (T1WI) in-phase and T2-weighted imaging (T2WI) sequences, while T2WI in the opposite phase displayed areas with unevenly low signal intensity, indicating the presence of fatty components. Contrast-enhanced T1WI displayed a "fast in and fast out" enhancement pattern. These distinct imaging features contribute to the diagnosis of hepatic PEComas and distinguish it from hepatocellular carcinoma.
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Affiliation(s)
| | | | | | | | | | - Xianwen Hu
- Department of Nuclear Medicine, Affiliated Hospital of Zunyi Medical University, Zunyi, China
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27
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Peker SK, Tevetoğlu F, Aliyeva C, Çevik H, Batur Ş, Yener HM. Perivascular Epitheloid Cell Tumor (PEComa) of the Neck. Indian J Otolaryngol Head Neck Surg 2023; 75:3858-3860. [PMID: 37974890 PMCID: PMC10645702 DOI: 10.1007/s12070-023-03918-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/21/2022] [Accepted: 05/28/2023] [Indexed: 11/19/2023] Open
Abstract
Perivascular epitheloid cell tumors (PEComas) are a family of neoplasms with distinctive perivascular epitheloid cells. 36 year old female patient admitted to our clinic with a mass on neck. Biopsy was reported as PEComa. PEComas are very rare, especially in neck region. Here, we present the second case in literature.
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Affiliation(s)
- Sinem Kara Peker
- Cerrahpaşa Medical Faculty Otorhinolaryngology-Head and Neck Surgery, Department, Istanbul University-Cerrahpaşa, Kocamustafapaşa Fatih, Istanbul, 34098 Turkey
| | - Fırat Tevetoğlu
- Cerrahpaşa Medical Faculty Otorhinolaryngology-Head and Neck Surgery, Department, Istanbul University-Cerrahpaşa, Kocamustafapaşa Fatih, Istanbul, 34098 Turkey
| | - Chinara Aliyeva
- Cerrahpaşa Medical Faculty Otorhinolaryngology-Head and Neck Surgery, Department, Istanbul University-Cerrahpaşa, Kocamustafapaşa Fatih, Istanbul, 34098 Turkey
| | - Haluk Çevik
- Cerrahpaşa Medical Faculty Otorhinolaryngology-Head and Neck Surgery, Department, Istanbul University-Cerrahpaşa, Kocamustafapaşa Fatih, Istanbul, 34098 Turkey
| | - Şebnem Batur
- Pathology Department, Istanbul University-Cerrahpaşa, Istanbul, Turkey
| | - H. Murat Yener
- Pathology Department, Istanbul University-Cerrahpaşa, Istanbul, Turkey
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28
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Feng R, Tao Y, Zhang T, Zhao S, Yin Z, Ke C, Wang J. Clinicopathological features of primary malignant perivascular epithelioid cell tumors of ureter: Histologic-radiologic correlation. Ann Diagn Pathol 2023; 67:152200. [PMID: 37666011 DOI: 10.1016/j.anndiagpath.2023.152200] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/25/2023] [Revised: 08/09/2023] [Accepted: 08/11/2023] [Indexed: 09/06/2023]
Abstract
Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal tumor that is mainly seen in middle-aged women. PEComa originating in the ureter is extremely rare it is unclear whether they display typical clinical and radiographic features seen elsewhere. Herein, we report findings from 2 cases of primary PEComa of the ureter that we classified as malignant. Case 1: A 45-year-old woman was admitted to the hospital with intermittent distension in her waist. After appropriate imaging, the right ureter and right kidney were excised under general anesthesia. The tumor measured 1.4 cm. Microscopically, the tumor displayed infiltrative growth, >2 mitoses per 10 high power fields (HPF), necrosis, and lympho-vascular invasion. Case 2: A 30-year-old woman was admitted to the hospital due to hematuria 20 days duration. The left ureter and left kidney were ultimately excised under general anesthesia. The tumor measured 2 cm. Microscopically, the tumor showed infiltrative growth and >2 mitoses/10 HPF. Our cases were diagnosed as malignant PEComa. No disease recurrence was observed in either of the two patients during the postoperative follow-up period. Malignant primary ureteral PEComa is very rare. The clinical manifestations are not specific, and it is usually misdiagnosed as a malignant neoplasm on imaging. Therefore, its diagnosis requires pathological examination and immunohistochemical analysis of the sampled or resected tumor. Treatment requires a complete surgical resection and regular clinical follow-up.
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Affiliation(s)
- Runlin Feng
- Department of Pathology, The Second Affiliated Hospital of Kunming Medical University, Yunnan, China
| | - Yanping Tao
- Department of Emergency, Kunming Third People's Hospital, Kunming Medical University, Yunnan, China
| | - Tao Zhang
- Department of Urology, The Second Affiliated Hospital of Kunming Medical University, Yunnan, China; School of Clinical Medicine, Southwest Medical University, Luzhou, Sichuan, China; Department of Urology, The Affiliated Hospital of Southwest Medical University, China
| | - Shenzhao Zhao
- Department of Urology, The Second Affiliated Hospital of Kunming Medical University, Yunnan, China
| | - Zhiyuan Yin
- Department of Urology, The Second Affiliated Hospital of Kunming Medical University, Yunnan, China
| | - Changxing Ke
- Department of Urology, The Second Affiliated Hospital of Kunming Medical University, Yunnan, China.
| | - Jiaping Wang
- Department of Radiology, The Second Affiliated Hospital of Kunming Medical University, Yunnan, China.
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29
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Srour MD, Harris A. Recurrence of Pigmented Epithelioid Angiomyolipoma of the Kidney With Xp11 Translocation: A Case Report. Cureus 2023; 15:e47305. [PMID: 38021949 PMCID: PMC10656598 DOI: 10.7759/cureus.47305] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 10/19/2023] [Indexed: 12/01/2023] Open
Abstract
This case report pertains to a 70-year-old male patient with a medical history marked by atrial fibrillation, ankylosing spondylitis, and Crohn's disease. Eight years prior, the patient underwent a left radical nephrectomy due to the presence of a pigmented epithelioid angiomyolipoma (PEComa) in the kidney. Notably, pathological examination revealed an unusual subtype of PEComa characterized by Xp11 gene translocation, indicating a more aggressive clinical profile. Following a five-year observation period without recurrence, the patient was discharged. However, eight years after initial treatment, he presented with vague symptoms of left loin discomfort and fullness, which had persisted for several weeks. Subsequent evaluation via computed tomography (CT) scanning showed a small lesion at the site of the renal bed. Surgical resection confirmed the return of the identical tumour. Key clinical points elucidated by this case include the varied behaviour of PEComas, the essential need for prolonged surveillance, and a recognition that recurrences can transpire even after extended disease-free intervals. Prior studies suggest recurrence rates of up to 31.8% for this specific PEComa subtype, emphasising the requirement for prolonged follow-up protocols.
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Affiliation(s)
- Mahmoud D Srour
- Urology, Great Western Hospital NHS Foundation Trust, Swindon, GBR
| | - Andrew Harris
- Urology, Great Western Hospital NHS Foundation Trust, Swindon, GBR
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30
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Campos MAG, Vasques LF, de Medeiros RG, Monteiro Cutrim ÉM, Favarin AJ, Silva SRM, Silva GEB, Moraes MPDT, Zanatta ML, Queiróz DAR. Malignant lung PEComa (clear cell tumor): rare case report and literature review. Front Oncol 2023; 13:1260844. [PMID: 37799476 PMCID: PMC10547894 DOI: 10.3389/fonc.2023.1260844] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/18/2023] [Accepted: 08/30/2023] [Indexed: 10/07/2023] Open
Abstract
Clear cell tumors of the lung (CCTL), or "sugar tumors" of lung, are very uncommon lesions and are mostly benign perivascular epithelioid cell (PEC) tumors with no specific morphologic features. Fewer than 100 cases have been reported; the aggressive nature demonstrated in sporadic reports has rarely been described in the literature. Although the course is generally described as benign, eight reported cases showed malignant behavior. We report a case of a PEC with a malignant presentation in a young man, correlating the main characteristics of the tumor with other cases reported in the literature to better elucidate this rare presentation. We also performed a literature review of reports on benign and malignant CCTL cases, with a focus on clinical, imaging, and immunohistochemical differentiation. CCTLs are rare tumors that require histopathological and immunohistochemical confirmation; to date, criteria that can predict malignant evolution are lacking.
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Affiliation(s)
| | | | | | | | - Ana Júlia Favarin
- Department of Internal Medicine, Hospital of Medical School of São Paulo State University, Botucatu, Brazil
| | | | - Gyl Eanes Barros Silva
- Laboratory of Immunofluorescence and Electron Microscopy, University Hospital of Federal University of Maranhão, São Luís, Brazil
| | | | - Mariana Lopes Zanatta
- Department of Internal Medicine, Hospital of Medical School of São Paulo State University, Botucatu, Brazil
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31
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Wang T, Peng C, Ding X, Yang Y, Li J, Gu L, Wang B, Ma X. Renal angiomyolipoma with tumor thrombi: Clinical analysis of 18 cases in a single-center experience. Urol Oncol 2023; 41:328.e1-328.e8. [PMID: 37149431 DOI: 10.1016/j.urolonc.2023.04.007] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/19/2022] [Revised: 02/03/2023] [Accepted: 04/04/2023] [Indexed: 05/08/2023]
Abstract
PURPOSE To improve understanding of the clinical features of renal angiomyolipoma (AML) accompanied by tumor thrombus (TT). METHODS From January 2017 to February 2022, 18 patients with AML and TT were enrolled. We retrospectively analyzed them and there were 6 cases of epithelial AML (EAML) and 12 of classical AML (CAML). We compared the key variables between the two cohorts. RESULTS The mean age of the 18 cases was 42.0 (standard deviation [SD] 13.4) years and 14 (77.8%) were female. Eleven (61.1%) tumors were on the right side. Only two (11.1%) cases presented with flank pain. The mean follow-up time was 33.6 (IQR: 20.1-48.5) months. All participants were alive at the end of follow-up. One case developed lung metastases 21 months after operation but entered remission after 2 years of everolimus treatment. The imaging diagnoses of all CAML cases were consistent with the pathology, while all imaged EAML cases were diagnosed with carcinomas. Five EAML cases, but only one CAML case, exhibited necrosis (83.3 vs. 8.3%, P = 0.001). The Ki-67 index of the EAML group was significantly higher than that of the CAML group (7 vs. 2, P = 0.004). CONCLUSIONS Compared to CAML, EAML tended to be associated with a higher imaging misdiagnosis rate, and was more commonly associated with necrosis and a higher Ki-67 index. Surgery remains the prime treatment for nonmetastatic AML with TT; such cases have a relatively good prognosis despite the malignant potential.
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Affiliation(s)
- Tao Wang
- Department of Urology, the third Medical Centre, Chinese PLA General Hospital, Beijing, China
| | - Cheng Peng
- Department of Urology, the third Medical Centre, Chinese PLA General Hospital, Beijing, China
| | - Xiaohui Ding
- Department of Pathology, the first Medical Centre, Chinese PLA General Hospital, Beijing, China
| | - Yang Yang
- Department of Urology, the third Medical Centre, Chinese PLA General Hospital, Beijing, China
| | - Jinhang Li
- Department of Pathology, the first Medical Centre, Chinese PLA General Hospital, Beijing, China
| | - Liangyou Gu
- Department of Urology, the third Medical Centre, Chinese PLA General Hospital, Beijing, China.
| | - Baojun Wang
- Department of Urology, the third Medical Centre, Chinese PLA General Hospital, Beijing, China.
| | - Xin Ma
- Department of Urology, the third Medical Centre, Chinese PLA General Hospital, Beijing, China.
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32
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Tiwari M, Nikolopoulos M, Miah A, Wise O, Sayasneh A, Nath R, Rajkumar S, Kolomainen D, Mehra G. Contrasting Outcomes in Two Cases of Uterine PEComa. INDIAN JOURNAL OF GYNECOLOGIC ONCOLOGY 2023. [DOI: 10.1007/s40944-023-00708-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 03/16/2023]
Abstract
AbstractPerivascular epithelioid cell tumours of the uterus are rare neoplasms with only few cases described in the literature. Ongoing contribution to the literature is important in order to understand the natural history for the diagnosis and management challenges for PEComa. We present two contrasting cases of PEComa who presented with postmenopausal bleeding, were diagnosed on endometrial biopsy and had surgical treatment. The first patient following treatment has been disease free for four years while on regular follow-ups. The second patient had aggressive disease developed early recurrence requiring chemotherapy and died in 17 months from diagnosis.PEComa is a rare tumour with usually good outcomes, where surgery itself is adequate treatment. There is not much evidence available currently on the use of chemotherapy in rare cases, such as our second case, where PEComa presents aggressively. In this article, we elaborate two cases of contrasting outcomes with one presentation being aggressive requiring chemotherapy. We evaluated the current evidence on use of chemotherapy in rare cases.
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Meredith L, Chao T, Nevler A, Basu Mallick A, Singla RK, McCue PA, Bowne WB, Jiang W. A rare metastatic mesenteric malignant PEComa with TSC2 mutation treated with palliative surgical resection and nab-sirolimus: a case report. Diagn Pathol 2023; 18:45. [PMID: 37041531 PMCID: PMC10088294 DOI: 10.1186/s13000-023-01323-x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/26/2022] [Accepted: 03/05/2023] [Indexed: 04/13/2023] Open
Abstract
BACKGROUND Malignant perivascular epithelioid cell tumors (PEComas) are exceedingly rare malignant mesenchymal neoplasms with characteristic morphological and immunohistochemical (IHC) patterns. However, some malignant PEComas are poorly differentiated with atypical histopathological features, making a definitive diagnosis difficult. PEComas are most commonly found in females and often show either TSC1 or TSC2 alterations, which result in the activation of the mTOR pathway, or TFE3 fusions. Given these molecular characteristics, mTOR inhibitors have recently been approved by the FDA in the treatment of malignant PEComas, particularly in those with TSC1/2 alterations. Therefore, molecular analyses may be helpful for both the diagnostic workup of and predicting response to mTOR inhibitors in cases of malignant PEComas. CASE PRESENTATION Here, we report a case of an aggressive, 23 cm mesenteric malignant PEComa with multiple peritoneal metastases in a young male patient. Pathological examination of the initial biopsy showed a malignant epithelioid neoplasm with high-grade morphology and atypical immunoprofile, which precluded a definitive diagnosis. Because of the patient's excessive transfusion requirements due to intra-tumoral hemorrhage, a palliative R2 resection was performed. Histopathological examination of the tumor revealed focal immunoreactivity for Melan-A, HMB-45, desmin, and CD117. Although a diagnosis of malignant PEComa was favored, other entities such as epithelioid gastrointestinal stromal tumor (GIST) or melanoma could not be definitively ruled out. Given the favored diagnosis, the patient was started on sirolimus, an mTOR inhibitor, rather than chemotherapy. Molecular analyses were performed and the tumor was found to harbor mutations in TP53 and TSC2, supporting a definitive diagnosis of malignant PEComa. The patient was then switched to nab-sirolimus, with initial stabilization of the disease. CONCLUSIONS This report details a multidisciplinary approach for the diagnosis and management of a highly aggressive, metastatic malignant PEComa in a young male patient. The basis for the treatment of malignant PEComas with the recently FDA-approved mTOR inhibitor, nab-sirolimus, is also reviewed. In summary, this case highlights the importance of molecular analysis, particularly TSC1/2 alterations, for both the definitive diagnosis of malignant PEComas and predicting their response to nab-sirolimus.
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Affiliation(s)
- Luke Meredith
- Department of Surgery, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, 19107, USA
| | - Timothy Chao
- Department of Pathology and Genomic Medicine, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, 19107, USA
| | - Avinoam Nevler
- Department of Surgery, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, 19107, USA
| | - Atrayee Basu Mallick
- Department of Medical Oncology, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, 19107, USA
| | - Rajan K Singla
- Department of Medical Oncology, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, 19107, USA
| | - Peter A McCue
- Department of Pathology and Genomic Medicine, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, 19107, USA
| | - Wilbur B Bowne
- Department of Surgery, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, 19107, USA
| | - Wei Jiang
- Department of Pathology and Genomic Medicine, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, 19107, USA.
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Matrood S, Görg C, Safai Zadeh E, Alhyari A. Hepatic perivascular epithelioid cell tumor (PEComa): contrast-enhanced ultrasound (CEUS) characteristics-a case report and literature review. Clin J Gastroenterol 2023; 16:444-449. [PMID: 36964879 DOI: 10.1007/s12328-023-01779-w] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/26/2022] [Accepted: 02/23/2023] [Indexed: 03/26/2023]
Abstract
Perivascular epithelioid cell tumors (PEComa) are rare mesenchymal neoplasms that arise from soft tissue of various organs such as the stomach, intestines, and lungs. We report a rare case of a primary PEComa of the liver and its characteristics on contrast-enhanced ultrasound (CEUS) in a 51-year-old female patient with an incidental finding of a hypoechoic liver lesion with peripheral hypervascularization on Doppler ultrasound. CEUS showed homogenous hypervascularity in the arterial phase that was consistent in the portal phase. In the late phase, a central washout phenomenon was evident. Histopathologic findings on sonographic biopsy of the lesion revealed a mesenchymal tumor with positivity for melanocytic markers Human Melanin Black-45 (HMB45) and Melan-A consistent with a PEComa. Despite the absence of high-risk features for malignancy, surgical resection was recommended due to the uncertain malignant potential of PEComas. The patient refused the operation and preferred sonographic follow-up; the lesion was stable over a period of 2 years. CEUS can provide valuable information regarding PEComa. After histological confirmation, the choice between resection and a watchful waiting must be made on individual basis.
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Affiliation(s)
- Sami Matrood
- Department of Gastroenterology, Endocrinology, Metabolism and Clinical Infectiology, University Hospital Marburg, Philipps-University Marburg, Marburg, Germany
| | - Christian Görg
- Department of Gastroenterology, Endocrinology, Metabolism and Clinical Infectiology, University Hospital Marburg, Philipps-University Marburg, Marburg, Germany
- Interdisciplinary Centre of Ultrasound Diagnostics, University Hospital Marburg, Philipps-University Marburg, University Hospital Giessen and Marburg, Baldingerstraße, 35042, Marburg, Germany
| | - Ehsan Safai Zadeh
- Department of Gastroenterology, Endocrinology, Metabolism and Clinical Infectiology, University Hospital Marburg, Philipps-University Marburg, Marburg, Germany
- Interdisciplinary Centre of Ultrasound Diagnostics, University Hospital Marburg, Philipps-University Marburg, University Hospital Giessen and Marburg, Baldingerstraße, 35042, Marburg, Germany
| | - Amjad Alhyari
- Department of Gastroenterology, Endocrinology, Metabolism and Clinical Infectiology, University Hospital Marburg, Philipps-University Marburg, Marburg, Germany.
- Interdisciplinary Centre of Ultrasound Diagnostics, University Hospital Marburg, Philipps-University Marburg, University Hospital Giessen and Marburg, Baldingerstraße, 35042, Marburg, Germany.
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Fuchs JW, Schulte BC, Fuchs JR, Agulnik M. Targeted therapies for the treatment of soft tissue sarcoma. Front Oncol 2023; 13:1122508. [PMID: 36969064 PMCID: PMC10034045 DOI: 10.3389/fonc.2023.1122508] [Citation(s) in RCA: 9] [Impact Index Per Article: 4.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/13/2022] [Accepted: 02/23/2023] [Indexed: 03/11/2023] Open
Abstract
Soft tissue sarcomas are rare malignant tumors derived from mesenchymal cells that have a high morbidity and mortality related to frequent occurrence of advanced and metastatic disease. Over the past two decades there have been significant advances in the use of targeted therapies for the treatment of soft tissue sarcoma. The ability to study various cellular markers and pathways related to sarcomagenesis has led to the creation and approval of multiple novel therapies. Herein, we describe the current landscape of targeted medications used in the management of advanced or metastatic soft tissue sarcomas, excluding GIST. We distinguish three categories: targeted therapies that have current US Food and Drug Administration (FDA) approval for treatment of soft tissue sarcoma, non-FDA approved targeted therapies, and medications in development for treatment of patients with soft tissue sarcoma.
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Affiliation(s)
- Jeffrey W. Fuchs
- Department of Medicine, McGaw Medical Center of Northwestern University, Chicago, IL, United States
| | - Brian C. Schulte
- Department of Medicine, University of California, San Francisco, San Francisco, CA, United States
| | - Joseph R. Fuchs
- Department of Medicine, McGaw Medical Center of Northwestern University, Chicago, IL, United States
| | - Mark Agulnik
- Medical Oncology and Therapeutics Research, City of Hope Comprehensive Cancer Center, Duarte, CA, United States
- *Correspondence: Mark Agulnik,
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Agarwal P, Kanaujia S, Qayoom S, Seema, Rawat J. Pediatric Primary Ovarian PEComa: Morphological Approach and Diagnostic Challenges. INDIAN JOURNAL OF GYNECOLOGIC ONCOLOGY 2023; 21:2. [DOI: 10.1007/s40944-022-00676-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/04/2022] [Revised: 10/04/2022] [Accepted: 11/06/2022] [Indexed: 11/27/2022]
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Dhaliwal K, Marslender S. Malignant retroperitoneal PEComa: A case report with emphasis on radiological findings. Radiol Case Rep 2023; 18:1358-1363. [PMID: 36712190 PMCID: PMC9873579 DOI: 10.1016/j.radcr.2022.11.042] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/09/2022] [Revised: 11/15/2022] [Accepted: 11/16/2022] [Indexed: 01/23/2023] Open
Abstract
A perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal neoplasm with distinctive perivascular epithelioid cells that usually demonstrates myomelanocytic differentiation. PEComas can arise in various organs and generally are benign. Uncommonly PEComas have been documented to be malignant with metastasis most frequently to the lung, liver, lymph nodes, and bone. Here, we present the case of a 59-year-old male with a malignant retroperitoneal PEComa with confirmed metastasis to the femur and suspected metastasis to the liver and lung. The purpose of this case study is to present the progression and findings of a metastatic malignant PEComa.
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Hepatic Perivascular Epithelioid Cell Tumor Mimicking Hepatocellular Carcinoma. ACG Case Rep J 2023; 10:e00962. [PMID: 36699186 PMCID: PMC9857397 DOI: 10.14309/crj.0000000000000962] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/20/2022] [Accepted: 12/13/2022] [Indexed: 01/27/2023] Open
Abstract
Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal neoplasms, and liver PEComas are extremely rare. They are usually discovered incidentally, and diagnostic pitfalls are frequent owing to similar imaging characteristics to other liver neoplasms. We present a patient whose evaluation was consistent with a right-sided hepatocellular carcinoma for which right hepatectomy was performed. Based on the final histopathological examination and immunohistochemistry, a diagnosis of PEComa was made. Immunohistochemistry plays a crucial role in arriving at the diagnosis, and resection represents the standard of care. A long-term follow-up is recommended because the natural history of PEComas is unpredictable.
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Yan H, Zhang S, Ba Y, Li K, Gao G, Li Y, Zhang Y, Liu C, Shi N. Case Report: Perivascular epithelioid tumors of the gastrointestinal tract. Front Oncol 2023; 12:1026825. [PMID: 36727048 PMCID: PMC9885147 DOI: 10.3389/fonc.2022.1026825] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/24/2022] [Accepted: 12/28/2022] [Indexed: 01/17/2023] Open
Abstract
Background Perivascular epithelioid cell tumor of the gastrointestinal tract (GI PEComa) is a rare mesenchymal neoplasm. GI PEComa is mostly observed in the colon and has a marked middle-aged female predominance. PEComa has no typical clinical or imaging manifestations or endoscopic characteristics. Therefore, the diagnosis of this disease mostly relies on pathological findings. HMB-45 is a sensitive immune marker of PEComa. Case presentation We reported a case of a middle-aged female with sigmoid colon PEComa. To exclude carcinogenesis, the large basal polyp in the sigmoid colon was removed by endoscopic mucosal resection (EMR). Immunohistochemistry analysis results showed that this lesion expressed HMB-45, which is a characteristic melanin marker of PEComa. Finally, the lesion was diagnosed as sigmoid colon PEComa. At the time of submission of this report, surgical resection was the primary treatment for PEComa. Though the characteristics of tumor biology and clinical behavior in PEComa are not clear, the boundary is clear, and the tumor can be completely removed. However, close follow-up is required after the surgery because of the lesion's undetermined benign and malignant nature. Conclusion The present case study emphasizes the importance of pathological diagnosis. Therefore, upon finding gastrointestinal polyps with a mucosal ulcer under endoscopy, the GI PEComa diagnosis should be considered. It is necessary to detect the characteristic melanin markers of PEComa. Due to the rarity of these cases, challenges are faced in diagnosing and treating PEComa.
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Affiliation(s)
- Hui Yan
- Department of Gastroenterology, Binzhou Medical University Hospital, Binzhou, Shandong, China
| | - Shuhui Zhang
- Department of Gastroenterology, Binzhou Medical University Hospital, Binzhou, Shandong, China
| | - Ying Ba
- Department of Gastroenterology, Binzhou Medical University Hospital, Binzhou, Shandong, China
| | - Kun Li
- Department of Gastroenterology, Binzhou Medical University Hospital, Binzhou, Shandong, China
| | - Guoling Gao
- Department of Gastroenterology, Binzhou Medical University Hospital, Binzhou, Shandong, China
| | - Yanmin Li
- Department of Gastroenterology, Binzhou Medical University Hospital, Binzhou, Shandong, China
| | - Yan Zhang
- Department of Pathology, Binzhou Medical University Hospital, Binzhou, Shandong, China
| | - Chengxia Liu
- Department of Gastroenterology, Binzhou Medical University Hospital, Binzhou, Shandong, China
| | - Ning Shi
- Department of Gastroenterology, Binzhou Medical University Hospital, Binzhou, Shandong, China,*Correspondence: Ning Shi,
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Fejes Z, Sánta F, Jenei A, Király IE, Varga L, Kuthi L. Angiomyolipoma of the kidney-Clinicopathological analysis of 52 cases. Pathol Oncol Res 2023; 28:1610831. [PMID: 36699622 PMCID: PMC9868137 DOI: 10.3389/pore.2022.1610831] [Citation(s) in RCA: 8] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/19/2022] [Accepted: 12/20/2022] [Indexed: 01/10/2023]
Abstract
The renal angiomyolipoma (AML) is a benign tumor characteristically composed of fat, smooth muscle tissue, and vessels. We collected AMLs from our nephrectomy database, reclassified them according to their histological appearance, recorded the demographic, clinical, and pathological parameters, and compared them with oncocytoma (RO) and renal cell carcinoma (RCC). Immunohistochemistry was ordered in 41 cases. In 2224 nephrectomies, we found 52 AMLs with a 53 mm median size. The mean age was 52.76. Forty-eight tumors were sporadic, while four were hereditary. The revision resulted in 31 classic, 13 leiomyoma-like, five lipoma-like, two epithelioid, and one AML with epithelial cysts. SMA was diffusely positive, except for the epithelioid type, while MelanA harbored stronger expression than HMB45. AML was more frequent in females and appeared ten and 7 years earlier than RO and RCC, respectively. The follow-up time was 7.42 years, and neither tumor-related death nor relapse occurred. AML is rare in nephrectomies and develops primarily in females in their 50s with an average size of 50-60 mm at the surgery. The histological appearance in order of frequency is classic, leiomyoma-like, lipoma-like, epithelioid, and cystic. The MelanA, HMB45, and SMA immunohistochemistry can support the light-microscopic findings.
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Affiliation(s)
- Zsuzsanna Fejes
- Department of Radiology, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, Hungary
| | - Fanni Sánta
- Department of Pathology, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, Hungary
| | - Alex Jenei
- Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary
| | - István Előd Király
- Department of Urology, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, Hungary
| | - Linda Varga
- Department of Oncotherapy, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, Hungary
| | - Levente Kuthi
- Department of Pathology, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, Hungary,*Correspondence: Levente Kuthi,
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41
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Aljneibi SH, Aldhanhani AA, Abuhaleeqa K, Pichi F. Orbital Perivascular Epithelioid Cell Tumor in a Case of Tuberous Sclerosis. Case Rep Ophthalmol 2023; 14:282-287. [PMID: 37485243 PMCID: PMC10359681 DOI: 10.1159/000530036] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/02/2022] [Accepted: 03/02/2023] [Indexed: 07/25/2023] Open
Abstract
The aim of the study was to report a case of orbital perivascular epithelioid cell tumor (PEComa) in a known diagnosed patient of tuberous sclerosis and retinal astrocytic hamartoma. 43-year-old female presented with rapid progressive painful proptosis in the left eye, also reported new mass growing in her upper back. The patient past medical history is significant for left renal angiomyolipoma and multiple bilateral lung cysts of which she underwent right nephrectomy and lung biopsy, respectively. The lung biopsy turned diagnostic for lymphangiomyomatosis. On external examination, the left eye was grossly proptotic with hypoglobus. A typical butterfly distribution of sebaceous adenoma was noted across the patient cheeks and nose. Visual acuity in the right eye was 20/20 and the left eye, 20/25. Funduscopic examination identified type 1, 2, and 3 retinal astrocytic hamartomas. MRI brain and orbit was significant for a lesion arising from the lateral orbital wall with extensive bone destruction, displacing the left optic nerve medially. CT chest showed left extrathoracic mass had same radiological features as the orbital lesion; thus, an incisional biopsy performed on the former was diagnostic for PEComa with atypical features. This is the first observed case of PEComa in a known diagnosed patent with TS and retinal astrocytic hamartoma. The association of tuberous sclerosis complex and orbital PEComa is rarely and poorly reported in the literature compared to extraocular PEComa.
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Affiliation(s)
- Shaikha H. Aljneibi
- Cleveland Clinic AbuFcoi Dhabi, Eye Institute, Abu Dhabi, United Arab Emirates
| | - Aisha A. Aldhanhani
- Cleveland Clinic AbuFcoi Dhabi, Eye Institute, Abu Dhabi, United Arab Emirates
| | - Khaled Abuhaleeqa
- Cleveland Clinic AbuFcoi Dhabi, Eye Institute, Abu Dhabi, United Arab Emirates
- Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, OH, USA
| | - Francesco Pichi
- Cleveland Clinic AbuFcoi Dhabi, Eye Institute, Abu Dhabi, United Arab Emirates
- Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, OH, USA
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Cacciatore S, Recupero C, Massaro C, Elmi D, Fusco D, Badiali V, Brandi V, Arciuolo D, Marazzi F, Landi F. Rapidly Progressive Malignant Pelvic Perivascular Epithelioid Cell Neoplasm (PEComa) Associated with Eggerthella lenta Bloodstream Infection. Ann Geriatr Med Res 2022; 26:372-376. [PMID: 36455562 PMCID: PMC9830064 DOI: 10.4235/agmr.22.0138] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/13/2022] [Accepted: 11/26/2022] [Indexed: 12/04/2022] Open
Abstract
Perivascular epithelioid cell tumors (PEComa) are rare mesenchymal neoplasms composed of cells that express melanocytic and myogenic markers and grow around small blood vessels. PEComa often show benign behaviors but can also be highly aggressive. In frail and more complex patients, many conditions can overlap, compounding the diagnostic and therapeutic difficulties inherent in rare diseases. Moreover, the complexity of modern patients introduces new and significant players in host-microbe interactions, and emerging pathogens represent a relevant challenge to modern healthcare. Among these pathogens is Eggerthella lenta, an anaerobic gram-positive bacterium of the normal gut microbiota associated with life-threatening infections. Here, we present a case of malignant pelvic PEComa with rapid metastatic progression in a 73-year-old man who presented with an E. lenta bloodstream infection. Approaching differential diagnosis with open-mindedness may assist in better imaging interpretation, surgery scheduling, and proper treatment planning. The non-specific clinical presentation might delay timely diagnosis, while the absence of well-consolidated guidelines undermines the accurate management of the disease, for which strict follow-up can favor better outcomes. Progress in diagnostic techniques, such as the implementation of MALDI-TOF (matrix-assisted laser desorption/ionization-time of flight) mass spectrometry for micro-organism identification, helps with a more accurate pathogen diagnosis and characterization. This allows the implementation of the most appropriate therapy, as well as better surveillance of antibiotic resistance, infection prevention, and control measures. Nevertheless, a good dose of wisdom is vital to avoid overlooking potentially harmful pathogens, particularly in frail individuals.
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Affiliation(s)
- Stefano Cacciatore
- Department of Geriatrics and Orthopaedics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy,Corresponding Author: Stefano Cacciatore, MD Department of Geriatrics and Orthopaedics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, L.go A. Gemelli 8, 00168, Rome, Italy E-mail:
| | - Carla Recupero
- Department of Geriatrics and Orthopaedics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
| | - Claudia Massaro
- Department of Geriatrics and Orthopaedics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
| | - Daniele Elmi
- Department of Geriatrics and Orthopaedics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
| | - Domenico Fusco
- Department of Geriatrics and Orthopaedics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
| | - Vanessa Badiali
- Department of Geriatrics and Orthopaedics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
| | - Vincenzo Brandi
- Department of Geriatrics and Orthopaedics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
| | - Damiano Arciuolo
- Pathology Unit, Department of Woman and Child's Health and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy,Pathology Institute, Catholic University of Sacred Heart, Rome, Italy
| | - Fabio Marazzi
- Unit of Oncological Radiotherapy, Department of Diagnostic Imaging, Oncological Radiotherapy and Hematology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
| | - Francesco Landi
- Department of Geriatrics and Orthopaedics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
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Attia KH, Al Boukai AA, Arafah M, Mohammed MH. Renal and mediastinal perivascular epithelioid cell tumors (PEComas) in a young child with Tuberous Sclerosis; a rare case report. BJR Case Rep 2022; 9:20220105. [PMID: 36998339 PMCID: PMC10043601 DOI: 10.1259/bjrcr.20220105] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/01/2022] [Revised: 10/31/2022] [Accepted: 11/08/2022] [Indexed: 11/23/2022] Open
Abstract
We describe a unique case of perivascular epithelioid cell tumors PEComas occurring as mediastinal and left renal soft tissue masses discovered incidentally in a five-year-old Tuberous Sclerosis patient upon presentation to the emergency department for upper respiratory illness. The radiographic features were non-specific. However, the similar CT characteristics of both lesions and background history raised the suspicion of a synchronous mesenchymal tumor, and histopathology confirmed the diagnosis. The rarity of these tumors in the pediatric population and lack of specific diagnostic criteria impose reporting the case and emphasize the need for further research on imaging features of such tumors.
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Affiliation(s)
- Kamal H. Attia
- Department of Radiology and Medical Imaging, King Saud university medical city, Riyadh, Saudi Arabia
| | - Ahmad A. Al Boukai
- Department of Radiology and Medical Imaging, King Saud university medical city, Riyadh, Saudi Arabia
| | - Maha Arafah
- Department of Pathology, King Saud University, Riyadh, Saudi Arabia
| | - Muammar H. Mohammed
- Department of Radiology and Medical Imaging, King Saud university medical city, Riyadh, Saudi Arabia
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Zhang N, Ren Y, Zan L, Zhang X, Zhao J, Wen L, Wang Y. Case report: Kidney perivascular epithelioid cell tumor treated with anti-VEGFR tyrosine kinase inhibitor and MTOR inhibitor. Front Oncol 2022; 12:966818. [PMID: 36465390 PMCID: PMC9709202 DOI: 10.3389/fonc.2022.966818] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/11/2022] [Accepted: 10/31/2022] [Indexed: 10/12/2023] Open
Abstract
Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors arising from perivascular epithelial cells. There was no standard treatment for unresectable PEComa before 2021. For a low incidence and a rarely curable disease, development of new therapy is essential. A 45-year-old female was diagnosed with malignant renal PEComa (likely with TFE3 rearrangement) that underwent rapid progression after 10 months of surgery. The patient then received the tyrosine kinase inhibitor (TKI) Apatinib, and the tumor remained stable for 15 months before another progression. The patient then received the MTOR inhibitor everolimus that alleviated her symptoms but the tumor went into remission again after another 15 months. This result suggests that antagonizing the vascular endothelial growth factor receptor (VEGFR) pathway be a useful strategy for malignant PEComas, along with the MTOR pathway inhibition that had recently been approved for the rare tumor.
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Affiliation(s)
- Ninggang Zhang
- Department of Gastrointestinal Oncology, Shanxi Province Cancer Hospital/Shanxi Hospital Affiliated to Cancer Hospital, Chinese Academy of Medical Sciences/Cancer Hospital Affiliated to Shanxi Medical University, Taiyuan, China
| | - Yaqiong Ren
- Department of Radiotherapy Oncology, Shanxi Province Cancer Hospital/Shanxi Hospital Affiliated to Cancer Hospital, Chinese Academy of Medical Sciences/Cancer Hospital Affiliated to Shanxi Medical University, Taiyuan, China
| | - Likun Zan
- Department of Pathology, Shanxi Province Cancer Hospital/Shanxi Hospital Affiliated to Cancer Hospital, Chinese Academy of Medical Sciences/Cancer Hospital Affiliated to Shanxi Medical University, Taiyuan, China
| | - Xuting Zhang
- Department of Imaging, Shanxi Province Cancer Hospital/Shanxi Hospital Affiliated to Cancer Hospital, Chinese Academy of Medical Sciences/Cancer Hospital Affiliated to Shanxi Medical University, Taiyuan, China
| | - Jian Zhao
- Department of Gastrointestinal Oncology, Shanxi Province Cancer Hospital/Shanxi Hospital Affiliated to Cancer Hospital, Chinese Academy of Medical Sciences/Cancer Hospital Affiliated to Shanxi Medical University, Taiyuan, China
| | - Lu Wen
- Department of Gastrointestinal Oncology, Shanxi Province Cancer Hospital/Shanxi Hospital Affiliated to Cancer Hospital, Chinese Academy of Medical Sciences/Cancer Hospital Affiliated to Shanxi Medical University, Taiyuan, China
| | - Yusheng Wang
- Department of Gastrointestinal Oncology, Shanxi Province Cancer Hospital/Shanxi Hospital Affiliated to Cancer Hospital, Chinese Academy of Medical Sciences/Cancer Hospital Affiliated to Shanxi Medical University, Taiyuan, China
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45
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Marinho BM, Canha AG, Silva DS, Silva JDP. Primary retroperitoneal PEComa: an incidental finding. BMJ Case Rep 2022; 15:e250466. [PMID: 36368730 PMCID: PMC9660677 DOI: 10.1136/bcr-2022-250466] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 10/25/2022] [Indexed: 11/13/2022] Open
Abstract
Perivascular epithelioid cell neoplasm (PEComa) is a rare type of tumour, and primary retroperitoneal PEComa is rarer still. Although pulmonary lymphangioleiomyomatosis (LAM), angiomyolipomas and clear cell 'sugar' tumours of the lung are well described, relatively little is known about other members of the PEComa family. We describe a case of an asymptomatic retroperitoneal PEComa, lymphangioleiomyoma type, which appeared in a previously healthy middle-aged woman as an incidental finding, in a CT scan performed in the context of spontaneous pneumothorax. The patient underwent surgical excision of the tumour and the histopathological and immunohistochemical analysis of the surgical specimen made the definitive diagnosis. Although rare, reports of isolated retroperitoneal lymphangioleiomyoma and primary retroperitoneal PEComas NOS (not otherwise specified) are described in the literature, normally associated with pulmonary LAM. The patient's pulmonary imaging was normal. Short-term re-examination did not detect any recurrence. We also provide a literature review of this rare group of tumours.
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Affiliation(s)
- Bárbara Monteiro Marinho
- Department of Surgery, HEBIPA - Hepatobiliary and Pancreatic Unit, Hospital de Santo António, Centro Hospitalar Universitário do Porto, Porto, Portugal
| | - António Gâmboa Canha
- Department of Surgery, HEBIPA - Hepatobiliary and Pancreatic Unit, Hospital de Santo António, Centro Hospitalar Universitário do Porto, Porto, Portugal
| | - Donzília Sousa Silva
- Department of Surgery, HEBIPA - Hepatobiliary and Pancreatic Unit, Hospital de Santo António, Centro Hospitalar Universitário do Porto, Porto, Portugal
| | - José Davide Pinto Silva
- Department of Surgery, HEBIPA - Hepatobiliary and Pancreatic Unit, Hospital de Santo António, Centro Hospitalar Universitário do Porto, Porto, Portugal
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Gao X, Tang H, Wang J, Yao Q, Wang H, Wang Y, Ma M, Yang W, Yan K, Wu W. Specific imaging features indicate the clinical features of patients with hepatic perivascular epithelioid cell tumor by comparative analysis of CT and ultrasound imaging. Front Oncol 2022; 12:908189. [PMID: 36324566 PMCID: PMC9618795 DOI: 10.3389/fonc.2022.908189] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/31/2022] [Accepted: 09/29/2022] [Indexed: 11/24/2022] Open
Abstract
Objective The objective of the study was to explore the CT and ultrasound features and clinical significance of perivascular epithelioid cell tumor (PEComa) of the liver. Methods Eleven hepatic PEComa patients treated in our hospital were retrospectively analyzed based on the characteristics of the imaging results of the patients, including conventional ultrasound, CDFI, contrast-enhanced ultrasound (CEUS), and contrast-enhanced CT (CECT). Results CT scans showed that all lesions were hypodense. Ultrasonography showed that lesions were either hyperechoic (4/11, 36.36%), hypoechoic (4/11, 36.36%), isoechoic (1/11, 9.09%), or heterogeneously echoic (2/11, 18.18%). CDFI showed that most of the lesions had an abundant blood supply (9/11, 81.82%). Whether on CT scan or ultrasonography, the margins of the lesions were dominated by clear margins. Ultrasonography revealed more features: hyperechoic patterns around lesions (3/11, 27.27%) and lateral shadow (5/11, 45.45%). The CDFI showed that large blood vessels were observed around the lesions (9/11, 81.82%). CECT shows two enhancement patterns: “fast in and fast out (FIFO)” (8/11, 72.72%) and “fast in and slow out (FISO)” (3/11, 27.27%). CEUS shows that all lesions had the enhancement pattern of “FISO,” which was different from CECT. All lesions displayed rapid enhancement during HAP in CEUS during 7–20 s. Four patients (36.36%) washed out at 60–180 s, another four (36.36%) washed out at 180–300 s, and the remaining three patients (27.27%) showed no signs of washout even at 360 s. Conclusion Some imaging features, such as clear margins, peripheral hyperechoic around the lesion, lateral shadow, the large blood vessels around lesions, and the “FISO” enhancement pattern, may indicate expansive growth of the tumor and be helpful in the diagnosis of PEComa. Ultrasound images may provide more details for clinical reference.
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Affiliation(s)
- Xudong Gao
- Department of Ultrasound, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, China
- Hepatology Department and Emergency Department, The 5th Medical Center of PLA General Hospital, Beijing, China
| | - Hewen Tang
- Department of Ultrasound, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, China
| | - Jianying Wang
- Department of Information, Medical Supplies Center of PLA General Hospital, Beijing, China
| | - Qian Yao
- 4Department of Pathology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, China
| | - Hong Wang
- Department of Ultrasound, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, China
| | - Yan Wang
- Hepatology Department and Emergency Department, The 5th Medical Center of PLA General Hospital, Beijing, China
| | - Mingming Ma
- Hepatology Department and Emergency Department, The 5th Medical Center of PLA General Hospital, Beijing, China
| | - Wei Yang
- Department of Ultrasound, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, China
| | - Kun Yan
- Department of Ultrasound, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, China
- *Correspondence: Wei Wu, ; Kun Yan,
| | - Wei Wu
- Department of Ultrasound, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, China
- *Correspondence: Wei Wu, ; Kun Yan,
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Sanchez NG, Ávila Romay AA, Martínez Luna E, Padilla Rodríguez AL. Cutaneous Angiomyolipoma-A Distinct Entity That Should Be Separated From Classic Angiomyolipoma: Complete Review of Existing Cases and Defining Fundamental Features. JMIR DERMATOLOGY 2022; 5:e40168. [PMID: 37632898 PMCID: PMC10334929 DOI: 10.2196/40168] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/09/2022] [Revised: 09/07/2022] [Accepted: 09/17/2022] [Indexed: 11/13/2022] Open
Abstract
Cutaneous angiomyolipoma is a rare mesenchymal tumor that is demographically, clinically, and immunohistochemically distinct from its renal and extrarenal counterparts. We present a case of cutaneous angiomyolipoma in the right retroauricular area of a 35-year-old male patient and provide a broad systematic review of the literature and the largest compilation of cutaneous angiomyolipomas reported to date. According to the findings presented in this review, we conclude that cutaneous angiomyolipoma should be completely separated from renal and extrarenal angiomyolipomas and therefore be considered a distinct entity in the classification of skin tumors.
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Affiliation(s)
- Natalia Gabriela Sanchez
- DIGIPATH: Digital Pathology Laboratory, Mexico City, Mexico
- Instituto Tecnológico y de Estudios Superiores De Monterrey Campus Ciudad de México, Mexico City, Mexico
| | | | | | - Alvaro Lezid Padilla Rodríguez
- DIGIPATH: Digital Pathology Laboratory, Mexico City, Mexico
- Instituto Tecnológico y de Estudios Superiores De Monterrey Campus Ciudad de México, Mexico City, Mexico
- Escuela de Medicina Universidad Panamericana Campus Ciudad de México, Mexico City, Mexico
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Updates in Pathology for Retroperitoneal Soft Tissue Sarcoma. Curr Oncol 2022; 29:6400-6418. [PMID: 36135073 PMCID: PMC9497884 DOI: 10.3390/curroncol29090504] [Citation(s) in RCA: 12] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/02/2022] [Revised: 08/30/2022] [Accepted: 09/02/2022] [Indexed: 11/16/2022] Open
Abstract
Retroperitoneal tumors are extremely rare. More than 70% of primary retroperitoneal soft tissue tumors are malignant. The most common sarcomas in the retroperitoneum include liposarcomas and leiomyosarcoma, however other sarcomas, along with benign mesenchymal tumors, can occur. Sarcomas are a heterogenous group of tumors with overlapping microscopic features, posing a diagnostic challenge for the pathologist. Correct tumor classification has become important for prognostication and the evolving targeted therapies for sarcoma subtypes. In this review, the pathology of retroperitoneal soft tissue sarcomas is discussed, which is important to the surgical oncologist. In addition, less common sarcomas and benign mesenchymal tumors of the retroperitoneum, which may mimic sarcoma clinically and pathologically, are also discussed.
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Donato UM, Ferguson K. Perivascular Epithelioid Cell Tumor (PEComa) of the Lung in a 56-Year-Old Female Patient: A Case Report. Cureus 2022; 14:e29246. [PMID: 36262945 PMCID: PMC9573803 DOI: 10.7759/cureus.29246] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 07/10/2022] [Indexed: 11/17/2022] Open
Abstract
Perivascular epithelioid cell tumors, best known as PEComas, are extremely uncommon mesenchymal tumors The etiology of PEComas remains unestablished and its clinical presentation is usually benign. PEComas lack a distinctive symptomatic presentation; thus, the diagnosis of these tumors relies mainly on pathological examinations. These neoplasms have a very distinct immunoreactivity for melanocytic markers critical for their identification. Due to the rarity of these tumors and lack of a distinct disease presentation, we discuss the diagnostic relevance of imaging and pathologic findings in a 56-year-old woman diagnosed with a PEComa in the right middle lobe of the lung.
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Affiliation(s)
- Umberto M Donato
- Pediatric Oncology, Tampa General Hospital, Tampa, USA
- Radiology, Moffitt Cancer Center, Tampa, USA
- Pediatric Oncology, USF (University of South Florida) Health, Tampa, USA
| | - Keith Ferguson
- Diagnostic Imaging and Interventional Radiology, Moffitt Cancer Center, Tampa, USA
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Ascione A, Martignoni G, d’Amati G, Della Rocca C, Graziano P, Pernazza A. Extremely late-onset pulmonary metastasis from uterine PEComa. Pathologica 2022; 114:312-315. [DOI: 10.32074/1591-951x-762] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/13/2022] [Accepted: 03/31/2022] [Indexed: 11/30/2022] Open
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