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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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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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Amante MF. Hepatic perivascular epithelioid cell tumors: Benign, malignant, and uncertain malignant potential. World J Gastroenterol 2024; 30:2374-2378. [PMID: 38764772 PMCID: PMC11099397 DOI: 10.3748/wjg.v30.i18.2374] [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: 12/24/2023] [Revised: 02/20/2024] [Accepted: 04/25/2024] [Indexed: 05/11/2024] Open
Abstract
In 2013, the World Health Organization defined perivascular epithelioid cell tumor (PEComa) as "a mesenchymal tumor which shows a local association with vessel walls and usually expresses melanocyte and smooth muscle markers." This generic definition seems to better fit the PEComa family, which includes angiomyolipoma, clear cell sugar tumor of the lung, lymphangioleiomyomatosis, and a group of histologically and immunophenotypically similar tumors that include primary extrapulmonary sugar tumor and clear cell myomelanocytic tumor. Clear cell tumors with this immunophenotypic pattern have also had their malignant variants described. When localizing to the liver, preoperative radiological diagnosis has proven to be very difficult, and most patients have been diagnosed with hepatocellular carcinoma, focal nodular hyperplasia, hemangioma, or hepatic adenoma based on imaging findings. Examples of a malignant variant of the liver have been described. Finally, reports of malignant variants of these lesions have increased in recent years. Therefore, we support the use of the Folpe criteria, which in 2005 established the criteria for categorizing a PEComa as benign, malignant, or of uncertain malignant potential. Although they are not considered ideal, they currently seem to be the best approach and could be used for the categorization of liver tumors.
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Affiliation(s)
- Marcelo Fabián Amante
- División Patología, Hospital General de Agudos Cosme Argerich, Buenos Aires C1155AHA, Argentina
- División Patología, Hospital Alemán de Buenos Aires, Buenos Aires C1155AHA, Argentina
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4
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Hammer PM, Tan SY. Soft Tissue Perivascular Epithelioid Cell Tumors. Surg Pathol Clin 2024; 17:105-118. [PMID: 38278600 DOI: 10.1016/j.path.2023.06.002] [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] [Indexed: 01/28/2024]
Abstract
Perivascular epithelioid cell tumors (PEComas) are a heterogenous group of mesenchymal neoplasms with a mixed myomelanocytic immunophenotype. PEComa-family tumors include angiomyolipoma, lymphangioleiomyomatosis, and a large category of rare neoplasms throughout the body that are now classified under the umbrella term "PEComa." This review focuses on recent advances in the clinicopathological and molecular features of PEComas, with an emphasis on PEComas that originate in soft tissue.
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Affiliation(s)
- Phoebe M Hammer
- Department of Pathology, Stanford University School of Medicine, 1291 Welch Road, Lane Building L235, Stanford, CA 94305, USA
| | - Serena Y Tan
- Department of Pathology, Stanford University School of Medicine, 1291 Welch Road, Lane Building L235, Stanford, CA 94305, USA.
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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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Koufopoulos N, Pateras IS, Koratzanis C, Gouloumis AR, Ieronimaki AI, Fotiou A, Panayiotides IG, Vrachnis N. Uterine collision tumor (PEComa and endometrioid carcinoma) in a tuberous sclerosis patient: a case report. Front Oncol 2023; 13:1244261. [PMID: 37621679 PMCID: PMC10445650 DOI: 10.3389/fonc.2023.1244261] [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: 06/22/2023] [Accepted: 07/21/2023] [Indexed: 08/26/2023] Open
Abstract
Perivascular epithelioid cell tumors are very rare mesenchymal neoplasms arising in various locations, such as the female genital tract, kidney, lung, prostate, bladder, pancreas, soft tissues, and bone. They possess a unique immunophenotype, co-expressing myogenic and melanocytic markers; molecular findings include mutations of tuberous sclerosis complex and translocations of transcription factor E3, a member of the microphthalmia transcription factor gene family. We herewith report a uterine collision tumor consisting of a perivascular epithelioid cell tumor and a moderately differentiated endometrial endometrioid carcinoma in a patient with genetically proven tuberous sclerosis; two leiomyomas were also found in contact with the tumor. Although two such cases one with a benign and another with a malignant perivascular epithelioid cell tumor have previously been reported, ours is, to our knowledge, the first reported in a tuberous sclerosis patient.
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Affiliation(s)
- Nektarios Koufopoulos
- Second Department of Pathology, National and Kapodistrian University of Athens School of Medicine, “Attikon” University Hospital, Haidari, Greece
| | - Ioannis S. Pateras
- Second Department of Pathology, National and Kapodistrian University of Athens School of Medicine, “Attikon” University Hospital, Haidari, Greece
| | - Christos Koratzanis
- Third Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens School of Medicine, “Attikon” University Hospital, Haidari, Greece
| | - Alina-Roxani Gouloumis
- Second Department of Pathology, National and Kapodistrian University of Athens School of Medicine, “Attikon” University Hospital, Haidari, Greece
| | - Argyro-Ioanna Ieronimaki
- Second Department of Pathology, National and Kapodistrian University of Athens School of Medicine, “Attikon” University Hospital, Haidari, Greece
| | - Alexandros Fotiou
- Third Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens School of Medicine, “Attikon” University Hospital, Haidari, Greece
| | - Ioannis G. Panayiotides
- Second Department of Pathology, National and Kapodistrian University of Athens School of Medicine, “Attikon” University Hospital, Haidari, Greece
| | - Nikolaos Vrachnis
- Third Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens School of Medicine, “Attikon” University Hospital, Haidari, Greece
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Wang B, Xu X, Zhao Z. Clear cell "sugar" tumor of the lung: Diagnostic characteristics of a rare pulmonary tumor: A case report and review of literature. Medicine (Baltimore) 2023; 102:e33035. [PMID: 36800595 PMCID: PMC9936011 DOI: 10.1097/md.0000000000033035] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/19/2023] Open
Abstract
INTRODUCTION Clear cell tumors of the lung (CCTLs), also known as "sugar tumors" for an abundant cellular glycogen concentration, are an extremely rare type pulmonary neoplasm. Often, they are incidentally found on chest roentgenogram or computed tomography scan during routine examination. CCTLs usually present with nonspecific symptoms that pose a diagnostic challenge to clinicians. Accordingly, histopathology remains the gold standard for diagnosing. Moreover, some of them can present with either appearances or histopathological features similar to other pulmonary neoplasms under the light microscope, including pulmonary malignancy, thereby causing misdiagnosis prior to or after surgery. Accordingly, herein, we describe a rare case of CCTL, review the literature has been published, and then discuss the benign versus malignant nature of this rare tumor. PATIENT CONCERNS A 59-year-old man presented due to a high-density chest nodule in the left diaphragm. The patient's medical history was unremarkable and he also denied smoking in the past. DIAGNOSIS Physical examination, there were no noted signs. A new chest contrast-enhanced computed tomography revealed a 3.2 × 2.5 cm, solitary, circular nodule with a smooth edge located in the beside of the left thoracic aorta. Postoperative pathological and immunohistochemical examinations of the surgical specimens revealed a final diagnosis of CCTLs. INTERVENTIONS The patient underwent video-assisted thoracoscopic surgery. A wedge resection of left lower lung lobe was carried out and the tumor node was successfully removed alongside normal surrounding parenchyma. OUTCOMES The operation was successful. Then the patient recovered completely and continued to do well on postsurgical thoracic surgical clinic visits. The tumor was a benign tumor, and the patient did not require any additional treatment. The patient had been followed-up regularly for 4 years after surgery; she did not experience any complications and remained disease-free. CONCLUSION CCTLs should be considered in the differential diagnosis if a patient shows a solitary, circular chest nodule with a smooth edge. They are extremely rare lung tumors that must be differentiated from other lung tumors, especially the malignant tumors. Although pathological and immunohistochemical findings are important for making the diagnosis, the varying histopathological features on microscope make diagnosis difficult. The current case highlights the importance of physicians being aware of and suspecting CCTLs in similar cases, along with knowing the characteristics of CCTLs for the diagnosis and differential diagnosis.
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Affiliation(s)
- Bo Wang
- Department of Pathology, Xingtai People’s Hospital Affiliated to Hebei Medical University, Xingtai, Hebei, P.R. China
- * Correspondence: Bo Wang, Department of Pathology, Xingtai People’s Hospital Affiliated to Hebei Medical University, 16 Red Star Street, Xingtai, Hebei 054001, P.R. China (e-mail: )
| | - Xin Xu
- Department of Pathology, Xingtai People’s Hospital Affiliated to Hebei Medical University, Xingtai, Hebei, P.R. China
| | - Zhenya Zhao
- Department of Pathology, Xingtai People’s Hospital Affiliated to Hebei Medical University, Xingtai, Hebei, P.R. China
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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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Abstract
This review focuses on recent advances in epithelioid and myxoid uterine mesenchymal neoplasms, a category of tumors whereby diagnostic criteria have been rapidly evolving due to advances in molecular testing. Pertinent clinicopathological and molecular features are highlighted for perivascular epithelioid cell tumors, uterine tumors resembling ovarian sex cord tumors, BCOR/BCORL1-altered high-grade endometrial stromal sarcomas, and inflammatory myofibroblastic tumors. Novel developments in epithelioid and myxoid leiomyosarcomas are briefly discussed, and differential diagnoses with key diagnostic criteria are provided for morphologic mimickers.
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Affiliation(s)
- Elizabeth C Kertowidjojo
- Department of Pathology, University of Chicago Medicine, 5837 South Maryland Avenue, MC 6101, Chicago, IL 60637, USA
| | - Jennifer A Bennett
- Department of Pathology, University of Chicago Medicine, 5837 South Maryland Avenue, MC 6101, Chicago, IL 60637, USA.
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Ricci C, Dika E, Ambrosi F, Lambertini M, Veronesi G, Barbara C. Cutaneous Melanomas: A Single Center Experience on the Usage of Immunohistochemistry Applied for the Diagnosis. Int J Mol Sci 2022; 23:5911. [PMID: 35682589 PMCID: PMC9180684 DOI: 10.3390/ijms23115911] [Citation(s) in RCA: 20] [Impact Index Per Article: 6.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/29/2022] [Revised: 05/16/2022] [Accepted: 05/19/2022] [Indexed: 12/12/2022] Open
Abstract
Cutaneous melanoma (cM) is the deadliest of all primary skin cancers. Its prognosis is strongly influenced by the stage at diagnosis, with early stages having a good prognosis and being potentially treatable with surgery alone; advanced stages display a much worse prognosis, with a high rate of recurrence and metastasis. For this reason, the accurate and early diagnosis of cM is crucial-misdiagnosis may have extremely dangerous consequences for the patient and drastically reduce their chances of survival. Although the histological exam remains the "gold standard" for the diagnosis of cM, a continuously increasing number of immunohistochemical markers that could help in diagnosis, prognostic characterization, and appropriate therapeutical choices are identified every day, with some of them becoming part of routine practice. This review aims to discuss and summarize all the data related to the immunohistochemical analyses that are potentially useful for the diagnosis of cM, thus rendering it easier to appropriately applicate to routine practice. We will discuss these topics, as well as the role of these molecules in the biology of cM and potential impact on diagnosis and treatment, integrating the literature data with the experience of our surgical pathology department.
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Affiliation(s)
- Costantino Ricci
- Pathology Unit, Ospedale Maggiore, 40139 Bologna, Italy; (C.R.); (F.A.)
- Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, 40139 Bologna, Italy;
| | - Emi Dika
- Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, 40139 Bologna, Italy;
| | - Francesca Ambrosi
- Pathology Unit, Ospedale Maggiore, 40139 Bologna, Italy; (C.R.); (F.A.)
| | - Martina Lambertini
- Dermatology Unit, IRCCS Policlinico Sant’Orsola-Malpighi, University of Bologna, 40139 Bologna, Italy; (M.L.); (G.V.)
| | - Giulia Veronesi
- Dermatology Unit, IRCCS Policlinico Sant’Orsola-Malpighi, University of Bologna, 40139 Bologna, Italy; (M.L.); (G.V.)
| | - Corti Barbara
- Pathology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Policlinico di Sant’Orsola, 40139 Bologna, Italy
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11
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Chua D, Loh AHL, Tan E, Seow-En I. Perivascular epithelioid cell tumour (PEComa): an unusual cause of painful defaecation. BMJ Case Rep 2022; 15:e247686. [PMID: 35140096 PMCID: PMC8830192 DOI: 10.1136/bcr-2021-247686] [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: 01/12/2022] [Indexed: 11/03/2022] Open
Abstract
Perivascular epithelioid cell tumours (PEComa) are rare tumours of mesenchymal origin. We report a 39-year-old patient who presented with painful defecation secondary to an anorectal mass. The diagnosis of anorectal PEComa was confirmed following excision and histopathological examination. We review the literature and discuss the management of this uncommon entity.
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Affiliation(s)
- Deborah Chua
- Department of Colorectal Surgery, Singapore General Hospital, Singapore
| | | | - Emile Tan
- Department of Colorectal Surgery, Singapore General Hospital, Singapore
| | - Isaac Seow-En
- Department of Colorectal Surgery, Singapore General Hospital, Singapore
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12
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Cossío-Aranda J, Aranda-Frausto A, Berarducci J, Espinola-Zavaleta N, González-Melchor L, Vázquez-Antona C, Meléndez-Ramirez G, Armenta-Moreno JI, Keirns C. Case Report: A Rare Case of a Ventricular Perivascular Epithelioid Cell Tumor With Histologic Characteristics That Resembled a Primary Cardiac Rhabdomyoma. Front Cardiovasc Med 2021; 8:709328. [PMID: 34760936 PMCID: PMC8573143 DOI: 10.3389/fcvm.2021.709328] [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: 05/13/2021] [Accepted: 08/27/2021] [Indexed: 11/13/2022] Open
Abstract
We present the case of a young male patient with an initial diagnosis of a rhabdomyoma that was surgically treated at a different hospital when he was 17. After a 2-year disease-free period, the patient presented another intra-cardiac mass. He refused surgical treatment and died 5 years later. Post-mortem immunochemistry studies of both tumors led to the diagnosis of a primary malignant cardiac PEComa with histopathologic characteristics that resembled a rhabdomyoma with abundant “spider cells.”
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Affiliation(s)
| | | | | | | | | | | | | | | | - Candace Keirns
- International Medical Interpreters Association, Boston, MA, United States
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13
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A Liver Transplant for Local Control in a Pediatric Patient with Metastatic TFE3-Associated Perivascular Epithelioid Cell Tumor (PEComa) to the Liver. Case Rep Pathol 2021; 2021:3924565. [PMID: 34650822 PMCID: PMC8510831 DOI: 10.1155/2021/3924565] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/05/2021] [Accepted: 09/14/2021] [Indexed: 11/23/2022] Open
Abstract
Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors with widespread distribution throughout the body and unpredictable clinical behavior. Recently, a subset of these tumors has been reported to harbor Transcription Factor E3 (TFE3) gene rearrangement with distinct morphologic and immunophenotypic features. Although limited, these tumors may represent a separate entity from the conventional PEComas and may require different treatment approaches. Surgery is the main treatment option with no clear consensus on systemic therapy. Here, we present the first case of a malignant pediatric colonic TFE3-associated PEComa with isolated liver metastasis leading to liver transplantation for the local control.
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Ghanem S, Granina E, Hevroni G, Schrem E, Lin B, Chiu E. Metastatic cardiac PEComa presenting as a hemorrhagic pleural effusion: Case presentation and review of literature. CURRENT PROBLEMS IN CANCER: CASE REPORTS 2021. [DOI: 10.1016/j.cpccr.2021.100053] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/24/2022] Open
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15
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Bennett JA, Oliva E. Perivascular epithelioid cell tumors (PEComa) of the gynecologic tract. Genes Chromosomes Cancer 2020; 60:168-179. [PMID: 33099813 DOI: 10.1002/gcc.22908] [Citation(s) in RCA: 27] [Impact Index Per Article: 5.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/05/2020] [Accepted: 10/21/2020] [Indexed: 12/13/2022] Open
Abstract
PEComas of the female genital tract are rare mesenchymal neoplasms that are most common in the uterus, but also may occur in other gynecologic locations. As they morphologically and immunohistochemically resemble smooth muscle tumors, distinction between the two entities is often challenging, and may be aided by molecular analysis. Thus far, two distinct molecular groups-classic PEComas with TSC mutations and TFE3-translocation associated PEComas with TFE3 fusions have been described. Recognition of the first group is imperative as these patients may benefit from targeted therapy with mTOR inhibitors, if malignant. This review will focus on recognition of the morphologic and immunophenotypic features of PEComas, as well as the role of molecular testing in their diagnosis and treatment, analysis of the different algorithms to predict behavior, and differential diagnosis.
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Affiliation(s)
- Jennifer A Bennett
- Department of Pathology, University of Chicago Medicine, Chicago, Illinois, USA
| | - Esther Oliva
- Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts, USA
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Kim NI, Lee JS, Choi YD, Ju UC, Nam JH. TFE3-expressing malignant perivascular epithelioid cell tumor of the mesentery: A case report and review of literature. World J Clin Cases 2020; 8:4207-4214. [PMID: 33024780 PMCID: PMC7520760 DOI: 10.12998/wjcc.v8.i18.4207] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/14/2020] [Revised: 07/30/2020] [Accepted: 08/26/2020] [Indexed: 02/05/2023] Open
Abstract
BACKGROUND Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal tumor that exhibits an epithelioid and spindle cell morphology. The tumor is characterized by immunoreactivity for melanocytic and myogenic markers but can be misdiagnosed as more common tumors with similar characteristics, including gastrointestinal stroma tumors or leiomyosarcomas. Recently, a subset of PEComas has been reported to harbor a transcription factor binding to TFE3 fusion. Herein, we report a rare case of TFE3-expressing malignant PEComa arising from the mesentery.
CASE SUMMARY A 50-year-old woman presented with abdominal discomfort for 3 months. Results of laboratory tests were all within the normal ranges, and the patient had no notable medical history. Magnetic resonance imaging revealed a large tumor on the right side of the pelvic floor, which was originally suspected to be a primary ovarian tumor. However, during surgery, the tumor was revealed to have originated from the mesentery. Histologically, the tumor was composed of bundles of spindle cells and sheets of epithelioid cells. Extensive coagulative necrosis and numerous mitotic figures were observed. Immunohistochemistry revealed that the tumor cells were positive for smooth muscle actin, HMB-45, and TFE3 expression. Tumor involvement of the rectal serosa was identified, leading to a final diagnosis of malignant PEComa of the mesentery. Surgical resection was followed by adjuvant chemotherapy. No recurrence or metastasis was observed over a 6-month follow-up period.
CONCLUSION Malignant PEComa of the mesentery is extremely rare and should be distinguished from morphological mimics through differential diagnosis and immunohistochemistry.
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Affiliation(s)
- Nah Ihm Kim
- Department of Pathology, Chonnam National University Hospital and Medical School, Gwangju 61469, South Korea
| | - Ji Shin Lee
- Department of Pathology, Chonnam National University Hwasun Hospital and Medical School, Hwasun 58128, South Korea
| | - Yoo Duk Choi
- Department of Pathology, Chonnam National University Hospital and Medical School, Gwangju 61469, South Korea
| | - U Chul Ju
- Department of Obstetrics and Gynecology, Chonnam National University Hwasun Hospital and Medical School, Hwasun 58128, South Korea
| | - Jong Hee Nam
- Department of Pathology, Chonnam National University Hospital and Medical School, Gwangju 61469, South Korea
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Wangsiricharoen S, Larman TC, Wakely PE, Siddiqui MT, Ali SZ. Cytopathology of extra-renal perivascular epithelioid cell tumor (PEComa): a series of 7 cases and review of the literature. J Am Soc Cytopathol 2020; 10:175-186. [PMID: 33162379 DOI: 10.1016/j.jasc.2020.09.006] [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: 08/31/2020] [Revised: 09/16/2020] [Accepted: 09/16/2020] [Indexed: 01/10/2023]
Abstract
INTRODUCTION Perivascular epithelioid cell tumor (PEComa) is a family of rare mesenchymal tumors consisting of histologically and immunohistochemically distinctive perivascular epithelioid cells. Relatively little is known about the cytopathology of extra-renal PEComas. Because of a considerable range of morphology and their rarity, accurate cytologic classification can be challenging. We evaluated cytologic characteristics and diagnostic pitfalls of extra-renal PEComas on fine-needle aspiration (FNA). MATERIALS AND METHODS We performed a retrospective search in our cytopathology and surgical pathology database for cases diagnosed as PEComa that had corresponding cytology specimens from 3 medical institutions. All available cytopathology specimens were reviewed. We evaluated cytologic characteristics and recorded histologic diagnoses and immunohistochemical stains. RESULTS Seven FNA specimens from 6 patients were identified, and cytologic diagnoses were made in all cases as follows: PEComa (4 cases), most consistent with PEComa (1 case), malignant neoplasm (1 case), and hepatocellular carcinoma (1 case). Most specimens were moderately to highly cellular. Cell distribution occurred as tissue fragments with background proliferating capillaries. Most smears were composed of epithelioid cells showing mild to moderate anisonucleosis, abundant eosinophilic cytoplasm, well-defined borders, intranuclear pseudoinclusions, and prominent nucleoli. A combination of myoid and melanocytic markers was expressed in 6 cases except 1 case, which was called hepatocellular carcinoma. CONCLUSIONS This was the largest FNA series for extra-renal PEComas to date. Our study highlights some common cytomorphologic characteristics of PEComa with which cytopathologists should be familiar. In the right clinical and radiologic context, and with the aid of immunohistochemistry, a definitive diagnosis can be achieved.
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Affiliation(s)
| | - Tatianna C Larman
- Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland
| | - Paul E Wakely
- Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, Ohio
| | - Momin T Siddiqui
- Department of Pathology and Laboratory Medicine, Weil Cornell Medicine, New York Presbyterian Hospital, New York, New York
| | - Syed Z Ali
- Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
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Gadducci A, Zannoni GF. Perivascular epithelioid cell tumors (PEComa) of the female genital tract: A challenging question for gynaecologic oncologist and pathologist. Gynecol Oncol Rep 2020; 33:100603. [PMID: 32685651 PMCID: PMC7356199 DOI: 10.1016/j.gore.2020.100603] [Citation(s) in RCA: 11] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/30/2020] [Revised: 06/09/2020] [Accepted: 06/15/2020] [Indexed: 02/06/2023] Open
Abstract
Perivascular epithelioid cell tumors (PEComa)s are mesenchymal neoplasms composed of perivascular epithelioid cells, which express both melanocytic and myogenic markers. These neoplastic cells are thought to arise from undifferentiated cells of the neural crest, or from myoblastic cells harbouring a molecular alteration leading to expression of melanocytic markers, or from pericytic cells. The majority of cases are benign, but a small subset behaves in a malignant fashion. Unfortunately, given their rarity, reliable criteria for predicting malignancy have yet to be established. PEComas of the female genital tract account for nearly 25% of PEComas of all body sites, and the most common site of occurrence is the uterine corpus; less common sites include the cervix, adnexa, vagina/vulva or broad or round ligament exceptionally. The present review aims to elucidate the clinical, pathological and molecular features of gynecological PEComas. Moreover, prognostic and therapeutic implications are also discussed.
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Affiliation(s)
- Angiolo Gadducci
- Department of Clinical and Experimental Medicine, Division of Gynecology and Obstetrics, University of Pisa, Italy
| | - Gian Franco Zannoni
- Division of Anatomic Pathology and Histology - Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore School of Medicine, Rome, Italy
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Daimon M, Kanki S, Ozawa H, Katsumata T. A surgical case of primary perivascular epithelioid cell tumor of the heart. J Card Surg 2020; 35:1732-1735. [PMID: 32484981 DOI: 10.1111/jocs.14676] [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: 11/27/2022]
Abstract
BACKGROUND We encountered an extremely rare case of perivascular epithelioid cell tumor (PEComa) of the heart. CASE REPORT A 54-year-old woman was admitted to our hospital because a solid mass developing in the left atrioventricular groove by computed tomography scans of the chest. Histologic examination of the resected tumor revealed that the tumor had proliferating fusiform or spheroid cells with clear cytoplasm. Immunostaining showed positive results for α-smooth muscle actin, a myogenic marker, and human melanin black-45 (HMB-45), leading to a diagnosis of PEComa. The patient was discharged uneventfully, and there was no recurrence for the last thirteen years postoperatively. CONCLUSIONS We experienced a surgical case of PEComa primarily occurring in the heart. Although no sign of a recurrence is observed to date, we consider it necessary to follow up the case carefully.
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Affiliation(s)
- Masahiro Daimon
- Department of Thoracic and Cardiovascular Surgery, Osaka Medical College, Takatsuki, Osaka, Japan
| | - Sachiko Kanki
- Department of Thoracic and Cardiovascular Surgery, Osaka Medical College, Takatsuki, Osaka, Japan
| | - Hideki Ozawa
- Department of Thoracic and Cardiovascular Surgery, Osaka Medical College, Takatsuki, Osaka, Japan
| | - Takahiro Katsumata
- Department of Thoracic and Cardiovascular Surgery, Osaka Medical College, Takatsuki, Osaka, Japan
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20
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Hamza A, Guo CC. Perivascular Epithelioid Cell Tumor of the Urinary Bladder: A Systematic Review. Int J Surg Pathol 2019; 28:393-400. [PMID: 31865807 DOI: 10.1177/1066896919895810] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/15/2022]
Abstract
Perivascular epithelioid cell tumor (PEComa) of the urinary bladder is a rare neoplasm showing distinct melanocytic and smooth muscle differentiation. We aimed to review the clinicopathologic features of bladder PEComa using all the available cases in the literature, along with 2 new cases from our database. The patients included 15 females and 15 males with a mean age of 39.2 ± 15.3 years. Painless hematuria was the most common clinical presentation. The tumors were usually well circumscribed with a mean tumor size of 4.4 ± 2.7 cm. Bladder PEComas demonstrated nests, trabeculae, or sheets of epithelioid cells with intermixed spindled cells and numerous thin-walled vessels. Immunohistochemical studies showed that the tumors were positive for HMB45 (27/27), cathepsin (4/4), SMA (20/22), and caldesmon (3/3) and were negative for pan cytokeratin (0/18) and EMA (0/4). Molecular studies revealed that PEComa was associated with the TFE3 (n = 3) and EWSR1 (n = 1) gene rearrangements. Treatment included partial cystectomy (n = 18), transurethral resection (n = 8), and radical cystectomy (n = 4). Twenty patients had no evidence of disease during a mean follow-up time of 19.4 ± 17.2 months. Two patients had recurrence, and 1 patient died of metastatic disease. In conclusion, bladder PEComas demonstrate distinct morphologic and immunohistochemical features. Although most tumors follow a benign course, a small subset may develop metastasis and cause death.
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Affiliation(s)
- Ameer Hamza
- University of Texas MD Anderson Cancer Center, Houston, TX, USA
| | - Charles C Guo
- University of Texas MD Anderson Cancer Center, Houston, TX, USA
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21
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Chang M, Lim D, Genovesi M. Clear cell "sugar" tumor of the lung: a case report and review of the literature. AME Case Rep 2018; 2:40. [PMID: 30363768 DOI: 10.21037/acr.2018.08.03] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/25/2018] [Accepted: 08/13/2018] [Indexed: 11/06/2022]
Abstract
Clear cell "sugar" tumor of the lung is a rare benign tumor that is often an incidental finding during histopathologic workup. It strikingly has a similar resemblance to renal cell carcinoma (RCC) cells. Under the microscope, it is composed of thin cell walls and high levels of glycogen. Therefore, when diagnosed, it is important to rule out metastatic RCC. Here, in this case report, we present a case of clear cell "sugar" tumor of the lung and review the literature that has been published. Clear cell tumor of the lung needs to be studied more extensively as it can present with unique signs and symptoms. It has also occurred in the presence of systemic diseases. This has led researchers to theorize about its etiology which we discuss in this case report.
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Affiliation(s)
- Matthew Chang
- St. George's University School of Medicine, West Indies, Grenada
| | - Derek Lim
- Department of Cardiothoracic Surgery, NYU Langone - Brooklyn, NY, USA
| | - Mark Genovesi
- Department of Cardiothoracic Surgery, NYU Langone - Brooklyn, NY, USA
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22
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Lin KH, Chang NJ, Liou LR, Su MS, Tsao MJ, Huang ML. Successful management of perivascular epithelioid cell tumor of the rectum with recurrent liver metastases: A case report. Medicine (Baltimore) 2018; 97:e11679. [PMID: 30075560 PMCID: PMC6081099 DOI: 10.1097/md.0000000000011679] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/22/2022] Open
Abstract
RATIONALE The perivascular epithelioid cell tumor (PEComa) is rare in young man and rarely occurs in the large intestine. PATIENT CONCERNS The clinical characteristics, diagnosis, and managements in a 28-year-old boy who presented with sudden onset of cramping and abdominal pain and intermittent melena with a blood pressure of 74/39 mm Hg was retrospectively reviewed. CT scan of the abdomen revealed a 8.9 × 7.2 cm mass in the pelvic floor. DIAGNOSES Given the difficulty of obtaining a diagnostic specimen, surgical resection was performed. The pathology report of lower anterior resection was malignant PEComa of the rectum in 2006. INTERVENTIONS Treatment consisted of surgical resection only without additional adjuvant therapy. Over the next 49 months (until 2010) after surgery, abdominal CT showed a 0.6-cm hypodense mass over the liver with suspected liver metastasis. He refused any further evaluation and treatment. After 4 years (2014), abdominal CT showed that the original mass had increased from 0.6 to 1.5 cm and the number of tumors had increased from 1 to 3. In August 2014, he underwent a metastatic hepatectomy without additional chemotherapy or radiotherapy. OUTCOMES We noted that the metastatic progression was slow in the 4 years after the first operation. At 28 months after metastatic hepatectomy, the patient was doing well. There was also no recurrence of the PEComa of the rectum at the 120-month follow-up in 2016. LESSONS To the best of our knowledge, this is the first report of a PEComa of the rectum with liver metastases treated with only surgical resection. At approximately 8.8 cm, this is the largest PEComa of the rectum reported in the recent literature.
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Affiliation(s)
| | - Nai-Jen Chang
- Division of Pathology, Zuoying Branch of Kaohsiung Armed Forces General Hospital, Taiwan, Republic of China
| | - Li-Ren Liou
- Department of Surgery, Division of General Surgery
| | - Ming-Shan Su
- Department of Surgery, Division of General Surgery
| | - Min-Jen Tsao
- Department of Surgery, Division of General Surgery
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Yeon EK, Kim JI, Won KY, Lee HN. Growth pattern change of a benign clear cell 'sugar' tumor of the lung: Serial imaging surveillance over seven years. Oncol Lett 2018; 15:8652-8654. [PMID: 29805601 DOI: 10.3892/ol.2018.8391] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/09/2017] [Accepted: 03/16/2018] [Indexed: 11/05/2022] Open
Abstract
Clear cell tumor of the lung is a rare benign mesenchymal tumor and only sporadic cases have been previously reported. The present study reports the case of a 58-year-old man who presented with an incidentally detected solitary pulmonary nodule. Based on comparisons with serial previous chest and spine radiographs, a growth pattern change in the nodule (initial gradual growth over 4.5 years, then recent no growth over 2.5 years) was identified. The nodule was diagnosed as a benign clear cell tumor of the lung (CCTL) following surgical resection. Few studies have previously reported interval growth of CCTLs and the growth pattern of CCTL is not yet well known. To the best of our knowledge, this is the first reported case in which the growth pattern change of CCTL was identified via serial imaging over 7 years of follow-up.
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Affiliation(s)
- Eung Koo Yeon
- Department of Radiology, Kyung Hee University Medical Center, Seoul 02447, Republic of Korea
| | - Jung Im Kim
- Department of Radiology, Kyung Hee University Hospital at Gangdong, College of Medicine, Kyung Hee University, Seoul 05278, Republic of Korea
| | - Kyu Yeoun Won
- Department of Pathology, Kyung Hee University Hospital at Gangdong, College of Medicine, Kyung Hee University, Seoul 05278, Republic of Korea
| | - Han Na Lee
- Department of Radiology, Kyung Hee University Hospital at Gangdong, College of Medicine, Kyung Hee University, Seoul 05278, Republic of Korea
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24
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Recent Strategies for the Management of Renal Angiomyolipoma: A Review of Diagnostic and Therapeutic Approaches. Nephrourol Mon 2017. [DOI: 10.5812/numonthly.14251] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022] Open
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25
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Varan A, Bayhan T, Kiratli H, Özoğul E, Kösemehmetoğlu K, Bulut E, Akyüz C. An orbital perivascular epithelioid cell tumor in a 7-year-old boy: case report and review of the literature. J AAPOS 2017; 21:325-328.e1. [PMID: 28576480 DOI: 10.1016/j.jaapos.2017.05.022] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/08/2016] [Accepted: 01/08/2017] [Indexed: 11/16/2022]
Abstract
We report the case of a 7-year-old boy who presented with a swollen right eye. Magnetic resonance imaging revealed a right intraconal orbital mass with intense contrast enhancement. Incisional biopsy led to a diagnosis of perivascular epithelioid cell tumor (PEComa). Sirolimus was initiated but discontinued at the third week of treatment because the tumor had progressed. A minor regression of the tumor was seen after six cycles of systemic chemotherapy. Previously reported cases of PEComa were benign in nature, and full remission was achieved with surgical excision. In the present case the tumor was malignant and responded only slightly to systemic chemotherapy.
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Affiliation(s)
- Ali Varan
- Department of Pediatric Oncology, Hacettepe University, Cancer Institute, Ankara, Turkey.
| | - Turan Bayhan
- Department of Pediatric Oncology, Hacettepe University, Cancer Institute, Ankara, Turkey
| | - Hayyam Kiratli
- Department of Ocular Oncology, Hacettepe University, Faculty of Medicine, Ankara, Turkey
| | - Ece Özoğul
- Department of Pathology, Hacettepe University, Faculty of Medicine, Ankara, Turkey
| | - Kemal Kösemehmetoğlu
- Department of Pathology, Hacettepe University, Faculty of Medicine, Ankara, Turkey
| | - Elif Bulut
- Department of Radiology, Hacettepe University, Faculty of Medicine, Ankara, Turkey
| | - Canan Akyüz
- Department of Pediatric Oncology, Hacettepe University, Cancer Institute, Ankara, Turkey
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26
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Chen Z, Han S, Wu J, Xiong M, Huang Y, Chen J, Yuan Y, Peng J, Song W. A systematic review: perivascular epithelioid cell tumor of gastrointestinal tract. Medicine (Baltimore) 2016; 95:e3890. [PMID: 27428182 PMCID: PMC4956776 DOI: 10.1097/md.0000000000003890] [Citation(s) in RCA: 26] [Impact Index Per Article: 2.9] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/14/2022] Open
Abstract
Perivascular epithelioid cell tumor (PEComa) is a rare entity with distinctive morphology and of expressing myomelanocytic markers. Gastrointestinal tract (GI) is one of the most common anatomic sites of origin and counts for 20% to 25% of all reported cases of perivascular epithelioid cell tumors not otherwise specified (PEComas-NOS). However, the biologic behavior of perivascular epithelioid cell tumors of gastrointestinal tract (GI PEComas-NOS) is still unclear. The aim of conducting this systematic review is to sum up what is known so far of the epidemiology, natural history, management and prognosis of GI PEComas-NOS.A systematic research was performed on PubMed and EMBASE using the following terms: ("perivascular epithelioid cell tumor" or "PEComa") and ("gastrointestinal tract" or "GI" or "oral " or "mouth" or "esophagus" or "gullet" or "gastric" or "stomach" or "duodenum" or "jejunum" or "ileum" or "cecum" or "colon" or "colorectal" or "sigmoid" or "rectum" or "anus" or "mesentery") up to December 1, 2015. Retrieved GI PEComas-NOS publications, which included these terms, contains case reports, case series to case characteristic researches.A total of 168 articles were reviewed, 41 GI PEComa-NOS English studies among which were retrieved for analysis. We reviewed epidemiology, natural history, management and prognosis of GI PEComa-NOS. Generally GI PEComa-NOS is believed to have women predomination. The most frequently involved location is colon with non-specific clinical signs. Pathologically, GI PEComas-NOS shows epithelioid predominance (70%), meanwhile coexpresses melanocytic and muscle markers characteristically, while immunohistochemistry is a useful tool for identify, which indicates that HMB-45 is regarded as the most sensitive reagent. Complete resection served as mainstay of treatment, while chemotherapy should be unanimously considered to apply in malignant cases. Eventually, it is necessary for closed and long-term follow-up with endoscope and imaging for ruling out local recurrence or distant metastasis of this tumor.GI PEComas-NOS lives with unclear behavior. There are still many unverified clinicopathological issues of GI PEComas-NOS that needs to be clarified. Further studies and analyses concerning this rare entity should be brought out. Thus, the randomized clinical researches (RCTs) are required to be conducted.
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Affiliation(s)
- Zehong Chen
- Department of Gastrointestinal Surgery, The First Affiliated Hospital,Sun Yat-Sen University
| | - Siqi Han
- Faculty of Medical Statistics and Epidemiology, School of Public Health,Sun Yat-Sen University
| | - Jialin Wu
- Department of Gastrointestinal Surgery, The First Affiliated Hospital,Sun Yat-Sen University
| | - Minmin Xiong
- Center for Stem Cell Biology and Tissue Engineering, Key Laboratory for Stem Cells and Tissue Engineering, Ministry of Education, Sun Yat-Sen University
| | - Yanqiao Huang
- Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, Guangdong, China
| | - Jianhui Chen
- Department of Gastrointestinal Surgery, The First Affiliated Hospital,Sun Yat-Sen University
| | - Yujie Yuan
- Department of Gastrointestinal Surgery, The First Affiliated Hospital,Sun Yat-Sen University
| | - Jianjun Peng
- Department of Gastrointestinal Surgery, The First Affiliated Hospital,Sun Yat-Sen University
| | - Wu Song
- Department of Gastrointestinal Surgery, The First Affiliated Hospital,Sun Yat-Sen University
- Correspondence: Wu Song, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China (e-mail: )
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27
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Llamas-Velasco M, Requena L, Mentzel T. Cutaneous perivascular epithelioid cell tumors: A review on an infrequent neoplasm. World J Methodol 2016; 6:87-92. [PMID: 27019799 PMCID: PMC4804255 DOI: 10.5662/wjm.v6.i1.87] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/29/2015] [Revised: 12/15/2015] [Accepted: 02/17/2016] [Indexed: 02/06/2023] Open
Abstract
“Perivascular epithelioid cutaneous” cell tumors (PEComa) are a family of mesenchymal tumors with shared microscopic and immunohistochemical properties: They exhibit both smooth muscle cell and melanocytic differentiation. Non-neoplastic counterpart of PEComa’s cells are unknown, as well as the relationship between extracutaneous PEComa and primary cutaneous ones. We will review the clinical setting, histopathologic features, chromosomal abnormalities, differential diagnosis and treatment options for cutaneous PEComa.
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28
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Hasan H, Howard AF, Alassiri AH, Ng TL, McGregor G, Goddard K. PEComa of the terminal ileum mesentery as a secondary tumour in an adult survivor of embryonal rhabdomyosarcoma. ACTA ACUST UNITED AC 2015; 22:e383-6. [PMID: 26628881 DOI: 10.3747/co.22.2265] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/15/2023]
Abstract
Perivascular epithelioid cell tumours (pecomas) are rare mesenchymal tumours that are characterized by perivascular epithelioid cell differentiation and immunoreactivity to myogenic and melanocytic markers. These tumours can be classified as benign, uncertain malignant potential, or malignant. Because of the rarity of pecomas, their cause and clinical prognosis remain unclear. To the best of our knowledge, no reports in the literature describe a pecoma of the terminal ileum mesentery as a secondary tumour in an adult survivor of childhood embryonal rhabdomyosarcoma, let alone any childhood cancer. Here, we present the case of a 27-year-old man with a pecoma involving the mesentery of the terminal ileum. At the age of 5, he had been treated with a combination of chemotherapy and high-dose pelvic radiation therapy for embryonal rhabdomyosarcoma, most likely arising from the posterior bladder wall. During routine follow-up 22 years after this patient's initial treatment, computed tomography imaging revealed a mass within the terminal ileum mesentery. The tumour was successfully treated with surgical resection, and pathology examination determined the mass to be a pecoma with uncertain malignant potential. This first case of a pecoma of the terminal ileum mesentery arising within a high-dose radiation therapy field as a secondary tumour in an adult survivor of childhood cancer highlights the importance of screening and surveillance in high-risk childhood cancer survivors treated with high-dose radiation therapy. Further research to build a better understanding of this remarkably rare tumour is warranted.
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Affiliation(s)
- H Hasan
- Department of Radiation Oncology, BC Cancer Agency-Vancouver Centre, Vancouver, BC; ; Pediatric Oncology Group of Ontario, Toronto, ON
| | - A F Howard
- Department of Radiation Oncology, BC Cancer Agency-Vancouver Centre, Vancouver, BC; ; School of Population and Public Health, University of British Columbia, Vancouver, BC
| | - A H Alassiri
- Department of Pathology and Laboratory Medicine, Vancouver General Hospital, Vancouver, BC
| | - T L Ng
- Department of Anatomical Pathology, Vancouver General Hospital, Vancouver, BC
| | - G McGregor
- Division of Surgical Oncology, BC Cancer Agency, Vancouver, BC; ; Division of Surgical Oncology, Vancouver General Hospital, Vancouver, BC; ; Division of General Surgery, University of British Columbia, Vancouver, BC
| | - K Goddard
- Department of Radiation Oncology, BC Cancer Agency-Vancouver Centre, Vancouver, BC; ; Department of Surgery, University of British Columbia, Vancouver, BC
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29
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Abstract
Perivascular epitheloid cell tumors (PEComas) are rare tumors of malignant potential. There is no normal cell variant to these cells. The family is large and includes angiomyolipoma, clear cell “sugar” tumor amongst others. Imaging modalities are not very diagnostic. The diagnosis hence is often postoperative. A 55-year old female presented to us with ultrasonographic diagnosis of solid mass in the right infrarenal region. Contrast-enhanced computerized sonography (CECT) suggested paraganglioma or a soft tissue retroperitoneal tumor. Laparoscopic excision was successful. The rarity of this pathology and laparoscopic modality of excision prompted us to publish this report.
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Affiliation(s)
- Amol H Bhanushali
- Department of Surgery and Minimal Access surgery, Kaushalya Hospital, Thane, Maharashtra, India
| | - Abhay N Dalvi
- Department of Surgery and Minimal Access surgery, Kaushalya Hospital, Thane, Maharashtra, India
| | - Harikant S Bhanushali
- Department of Surgery and Minimal Access surgery, Kaushalya Hospital, Thane, Maharashtra, India
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30
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Ruptured pericardial perivascular epithelioid cell tumor (PEComa) leading to sudden death: an autopsy case report and review of the literature. Cardiovasc Pathol 2015; 25:63-6. [PMID: 26386746 DOI: 10.1016/j.carpath.2015.08.009] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/17/2015] [Revised: 08/15/2015] [Accepted: 08/20/2015] [Indexed: 11/20/2022] Open
Abstract
A 30-year-old man with past medical history of atrial fibrillation/flutter passed away after presenting with sudden-onset cardiac dysfunction. The postmortem examination revealed cardiac tamponade secondary to rupture of a 7.2-cm pericardial perivascular epithelioid cell tumor (PEComa). The tumor grossly appeared to arise from the transverse pericardial sinus and focally penetrated the epicardium of the right atrium. Microscopically, it was composed of predominately spindle cells with low nuclear grade, no pleomorphism, or readily apparent mitoses. Immunohistochemistry revealed cytoplasmic reactivity for HMB-45, desmin, and smooth muscle actin. Electron microscopic findings were characterized by melanosome-like structures intermixed with intermediate filaments and abundant stacked endoplasmic reticulum. The present case is unique among previously reported pericardial/myocardial PEComas as a first example resulting in unexpected cardiac tamponade and sudden cardiac death.
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PEComa: morphology and genetics of a complex tumor family. Ann Diagn Pathol 2015; 19:359-68. [PMID: 26144278 DOI: 10.1016/j.anndiagpath.2015.06.003] [Citation(s) in RCA: 150] [Impact Index Per Article: 15.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/23/2015] [Accepted: 06/04/2015] [Indexed: 12/20/2022]
Abstract
Perivascular epithelioid cell tumors, or PEComas, are mesenchymal neoplasms composed of histologically and immunohistochemically distinctive epithelioid or spindle cells, which are immunoreactive for both smooth muscle and melanocytic markers. The cells in PEComas are typically arranged around blood vessels and appear to form the vessel wall, often infiltrating the smooth muscle of small- to medium-sized vessels. Periluminal cells are usually epithelioid and the more peripheral cells are spindle shaped. The cells have small, round to oval nuclei, sometimes with focal nuclear atypia, and clear to eosinophilic cytoplasm, and no counterpart normal cell has been identified. The PEComa "family" now includes angiomyolipoma, pulmonary clear cell "sugar" tumor and lymphangioleiomyomatosis, primary extrapulmonary sugar tumor, clear cell myomelanocytic tumor of the falciform ligament/ligamentum teres, abdominopelvic sarcoma of perivascular epithelioid cells, and other tumors with similar features at various sites that are simply termed PEComa. Some PEComas occur in patients with tuberous sclerosis complex and share the genetic abnormalities. There is a behavioral spectrum from benign to frankly malignant, and histologic criteria have been proposed for assessing malignant potential. The differential diagnosis can include carcinomas, smooth muscle tumors, other clear cell neoplasms, and adipocytic tumors. PEComas constitute a genetically diverse group that includes neoplasms harboring TFE3 gene rearrangements and those with TSC2 mutations, indicating alternative tumorigenic pathways. Recent advances in therapy of malignant PEComas relate to increased knowledge of specific genetic changes and their effects on metabolic pathways that are susceptible to specific interventions. We review PEComas, emphasizing the diagnostic spectrum and recent immunohistochemical and genetic findings.
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Malignant perivascular epithelioid cardiac sarcomas: a case report and a review of the literature. Case Rep Cardiol 2015; 2015:258140. [PMID: 25977823 PMCID: PMC4421031 DOI: 10.1155/2015/258140] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/24/2015] [Accepted: 04/05/2015] [Indexed: 12/02/2022] Open
Abstract
Cardiac tumors, either benign or malignant, are difficult to diagnose due to their rarity, variety, and nonspecific presentation. Since primary cardiac sarcoma remains an unusual diagnosis, the literature on its presentation, diagnosis, and optimal management remains scarce. To our knowledge the following case of cardiac perivascular epithelioid cell tumor is the fourth reported case found in the literature. Although complete surgical resection remains the gold standard for cardiac sarcomas, our case demonstrates that not all of them can be completely resected.
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Conlon N, Soslow RA, Murali R. Perivascular epithelioid tumours (PEComas) of the gynaecological tract. J Clin Pathol 2015; 68:418-26. [PMID: 25750268 DOI: 10.1136/jclinpath-2015-202945] [Citation(s) in RCA: 56] [Impact Index Per Article: 5.6] [Reference Citation Analysis] [Abstract] [Key Words] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/10/2015] [Accepted: 02/11/2015] [Indexed: 12/11/2022]
Abstract
Perivascular epithelioid tumours (PEComas) of the gynaecological tract are rare tumours which were first recognised and diagnosed within the last 20 years. They represent a unique diagnostic challenge with regard to their accurate and reproducible distinction from more common entities such as smooth muscle tumours of the uterine corpus. In this review article, we trace the development of the concept of the PEComa tumour family, highlight what is known about extra-gynaecological tract PEComa at an immunohistochemical, molecular and therapeutic level and then present a summary of all reported cases of gynaecological tract PEComa to date. In the summary, we highlight rare subtypes of gynaecological tract PEComa and compare the performances of extant prognostic classification systems for malignancy in these tumours.
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Affiliation(s)
- Niamh Conlon
- Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA
| | - Robert A Soslow
- Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA
| | - Rajmohan Murali
- Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York, USA
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Martignoni G, Pea M, Zampini C, Brunelli M, Segala D, Zamboni G, Bonetti F. PEComas of the kidney and of the genitourinary tract. Semin Diagn Pathol 2015; 32:140-59. [DOI: 10.1053/j.semdp.2015.02.006] [Citation(s) in RCA: 49] [Impact Index Per Article: 4.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/02/2023]
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Lu B, Wang C, Zhang J, Kuiper RP, Song M, Zhang X, Song S, Kessel AGV, Iwamoto A, Wang J, Liu H. Perivascular epithelioid cell tumor of gastrointestinal tract: case report and review of the literature. Medicine (Baltimore) 2015; 94:e393. [PMID: 25621681 PMCID: PMC4602642 DOI: 10.1097/md.0000000000000393] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/27/2023] Open
Abstract
Perivascular epithelioid cell tumors of gastrointestinal tract (GI PEComas) are exceedingly rare, with only a limited number of published reports worldwide. Given the scarcity of GI PEComas and their relatively short follow-up periods, our current knowledge of their biologic behavior, molecular genetic alterations, diagnostic criteria, and prognostic factors continues to be very limited.We present 2 cases of GI PEComas, one of which showed an aggressive histologic behavior that underwent multiple combined chemotherapies. We also review the available English-language medical literature on GI PEComas-not otherwise specified (PEComas-NOS) and discuss their clinicopathological and molecular genetic features.Pathologic analyses including histomorphologic, immunohistochemical, and ultrastructural studies were performed to evaluate the clinicopathological features of GI PEComas, their diagnosis, and differential diagnosis. Immunohistochemistry, semiquantitative reverse transcriptase polymerase chain reaction, and DNA sequencing assays were carried out to detect the potential molecular genetic alterations in our cases. Microscopically, the tumors showed distinctive histologic features of PEComas-NOS, including fascicular or nested architecture, epithelioid or spindled cell type, and clear to eosinophilic cytoplasm. The tumor cells were immunohistochemically positive for melanocytic markers. Molecular pathological assays confirmed a PSF-TFE3 gene fusion in one of our cases. Furthermore, in this case microphthalmia-associated transcription factor and its downstream genes were found to exhibit elevated transcript levels.Knowledge about the molecular genetic alterations in GI PEComas is still limited and warrants further study.
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Affiliation(s)
- Biyan Lu
- From the Guangdong Institute of Gastroenterology and the Sixth Affiliated Hospital, (BL, CW, JZ, MS, XZ, SS, JW, HL); Guangdong Key Laboratory of Colorectal and Pelvic Floor Diseases, (BL, CW, JZ, MS, XZ, JW, HL); Institute of Human Virology, (BL, CW, JZ, MS, XZ, HL) Key Laboratory of Tropical Disease Control (Ministry of Education); Sun Yat-sen University, Guangzhou (BL, CW, JZ, MS, XZ, HL); Dongguan Health School, Dongguan, China (BL); Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands (JZ, RPK, AGK); and Advanced Clinical Research Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan (AI)
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A 6-year-old girl with vaginal spotting who was diagnosed with perivascular epithelioid cell neoplasm after vaginoscopic resection. Obstet Gynecol Sci 2014; 57:409-11. [PMID: 25264534 PMCID: PMC4175604 DOI: 10.5468/ogs.2014.57.5.409] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/17/2014] [Revised: 04/08/2014] [Accepted: 04/09/2014] [Indexed: 12/18/2022] Open
Abstract
Perivascular epithelioid cell neoplasm (PEComa) is a rare tumor with unknown malignant potential. We report a case of a 6-year-old child with history of brain tumor (pineoblastoma), who presented with intermittent vaginal spotting for 6 months. A vaginoscopy revealed a 1.5×1.0-cm mass on the vaginal wall. Pathological examination demonstrated that the tumor was composed of clear cells with organoid patterns, which were immunohistochemically positive for HMB-45 and TFE3, and negative for CK, HNF1-B, SOX10, Melan A, and S-100 protein. These findings were consistent with PEComa arising from the vagina. Regular follow-up with magnetic resonance imaging has shown no signs of recurrence. This case shows that early detection of PEComa and subsequent regular follow-ups are important because of the neoplasm's unknown malignant potential.
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Kapur S, Patel NK, Levin MB, Huang R. Malignant mesenteric perivascular epithelioid cell neoplasm presenting as an intra-abdominal fistula in a 49-year-old female. Case Rep Oncol Med 2014; 2014:534175. [PMID: 25114821 PMCID: PMC4119907 DOI: 10.1155/2014/534175] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/25/2014] [Accepted: 06/03/2014] [Indexed: 11/17/2022] Open
Abstract
Perivascular epithelioid cell tumors are rare mesenchymal tumors arising from histologically and immunohistochemically distinctive perivascular epithelioid cells that express both myogenic and melanocytic markers. These tumors are known to arise from different organs in the body and usually have an unpredictable clinical course. We report a case of a 49-year-old female who presented with diffuse abdominal pain, fever, chills, and nonbilious vomiting for a day. Work-up revealed a mesenteric mass measuring 13.5 × 7.7 × 9.5 cm, arising in the mesentery of the hepatic flexure, with adjacent gas suggestive of fistularization into the right colon. An exploratory laparotomy with resection of the mesenteric mass was performed, and the initial histopathology results were compatible with either an adenocarcinoma or a sarcoma; however, because of poor differentiation it was difficult to make a definitive diagnosis. However, final histopathology results revealed a malignant perivascular epithelioid cell tumor (with reservation that a S100 negative metastatic melanoma must be excluded clinically). Following surgery the patient was started on everolimus, an m-TOR inhibitor, and has shown good response to this medication.
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Affiliation(s)
- Sakshi Kapur
- Department of Internal Medicine, Overlook Medical Center, 99 Beauvoir Avenue, Summit, NJ 07902, USA
| | - Napoleon K. Patel
- Department of Internal Medicine, Overlook Medical Center, 99 Beauvoir Avenue, Summit, NJ 07902, USA
| | - Miles B. Levin
- Division of Pathology, Overlook Medical Center, 99 Beauvoir Avenue, Summit, NJ 07902, USA
| | - Richard Huang
- MS III, St. George's University School of Medicine, True Blue, Grenada
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Ordóñez NG. Value of melanocytic-associated immunohistochemical markers in the diagnosis of malignant melanoma: a review and update. Hum Pathol 2014; 45:191-205. [PMID: 23648379 DOI: 10.1016/j.humpath.2013.02.007] [Citation(s) in RCA: 99] [Impact Index Per Article: 9.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/06/2013] [Revised: 02/12/2013] [Accepted: 02/15/2013] [Indexed: 11/21/2022]
Abstract
Since the identification of S100 protein as an immunohistochemical marker that could be useful in the diagnosis of melanoma in the early 1980s, a large number of other melanocytic-associated markers that could potentially be used to assist in the differential diagnosis of these tumors have also been investigated. A great variation exists, however, among these markers, not only in their expression in some subtypes of melanoma, particularly desmoplastic melanoma, but also in their specificity because some of them can also be expressed in nonmelanocytic neoplasms, including various types of soft tissue tumors and carcinomas. This article reviews the information that is currently available on the practical value of some of the markers that have more often been recommended for assisting in the diagnosis of melanomas, including those that have only recently become available.
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Affiliation(s)
- Nelson G Ordóñez
- Department of Pathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030.
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Kanazawa A, Fujii S, Godai TI, Ishibe A, Oshima T, Fukushima T, Ota M, Yukawa N, Rino Y, Imada T, Ito J, Nozawa A, Masuda M, Kunisaki C. Perivascular epithelioid cell tumor of the rectum: report of a case and review of the literature. World J Surg Oncol 2014; 12:12. [PMID: 24410788 PMCID: PMC3896964 DOI: 10.1186/1477-7819-12-12] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/14/2013] [Accepted: 12/25/2013] [Indexed: 01/26/2023] Open
Abstract
We report a case of perivascular epithelioid cell tumor arising in the rectum of a 55-year-old woman. The tumor was treated by transanal endoscopic microsurgery. After 1 year follow-up, the patient is alive with no radiologic or endoscopic evidence of recurrence. Perivascular epithelioid cell tumor is a rare mesenchymal tumor characterized by co-expression of melanocytic and smooth muscle markers. This rare tumor can arise in various organs, including the falciform ligament, uterus, uterine cervix, liver, kidney, lung, breast, cardiac septum, pancreas, prostate, thigh, and gastrointestinal tract. Perivascular epithelioid cell tumor of the gastrointestinal tract is very rare, with only 23 previously reported cases. We review the literature on perivascular epithelioid cell tumors arising in the gastrointestinal tract.
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Affiliation(s)
- Amane Kanazawa
- Gastroenterological Center, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
| | - Shoichi Fujii
- Gastroenterological Center, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
| | - Ten-i Godai
- Gastroenterological Center, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
| | - Atsushi Ishibe
- Gastroenterological Center, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
| | - Takashi Oshima
- Gastroenterological Center, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
| | - Tadao Fukushima
- Gastroenterological Center, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
| | - Mitsuyoshi Ota
- Gastroenterological Center, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
| | - Norio Yukawa
- Department of Surgery, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama-shi, Kanagawa-ken 236-0004, Japan
| | - Yasushi Rino
- Department of Surgery, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama-shi, Kanagawa-ken 236-0004, Japan
| | - Toshio Imada
- Department of Surgery, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama-shi, Kanagawa-ken 236-0004, Japan
| | - Junko Ito
- Department of Pathology, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
| | - Akinori Nozawa
- Department of Pathology, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
| | - Munetaka Masuda
- Department of Surgery, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama-shi, Kanagawa-ken 236-0004, Japan
| | - Chikara Kunisaki
- Gastroenterological Center, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
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PEComa of the gastrointestinal tract: clinicopathologic study of 35 cases with evaluation of prognostic parameters. Am J Surg Pathol 2013; 37:1769-82. [PMID: 24061520 DOI: 10.1097/pas.0b013e31829caab3] [Citation(s) in RCA: 58] [Impact Index Per Article: 4.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/22/2022]
Abstract
Perivascular epithelioid cell tumors (PEComas) are distinctive mesenchymal neoplasms that most often arise in the retroperitoneum, visceral organs, and abdominopelvic sites and usually show reactivity for melanocytic and smooth muscle markers. Fewer than 20 PEComas of the gastrointestinal (GI) tract have been reported, and behavior and criteria for malignancy are incompletely defined. The purpose of this study was to examine the clinicopathologic features of a series of GI PEComas and to evaluate prognostic parameters. A total of 35 PEComas of the GI tract were retrieved from consult and surgical files. Clinical and pathologic features were evaluated, and immunohistochemical analysis was performed. Clinical follow-up information was obtained from medical records and referring physicians. Nineteen patients were female and 16 male (median age 45 y; range, 7 to 70 y). One patient had tuberous sclerosis. Nineteen tumors arose in the colon, 12 in the small bowel, 2 in the stomach, and 1 each in gallbladder and omentum. Median tumor size was 6.2 cm (range, 0.8 to 22 cm). Three tumors were limited to the mucosa and submucosa, 8 extended to the muscularis propria, 15 to the subserosa/serosa, and 8 into the mesentery. The tumors were composed of nests and sheets of usually epithelioid cells with abundant granular eosinophilic to clear cytoplasm, surrounded by a delicate capillary vasculature. Thirteen tumors had mixed epithelioid and spindle cell components, and 2 were purely spindled. Sixteen tumors showed marked nuclear atypia. Seventeen tumors contained occasional pleomorphic cells, and 12 showed diffuse cellular pleomorphism. The median mitotic rate was 2/10 HPF (range, 0 to 36). Vascular invasion was present in 5 cases, and 16 tumors showed necrosis. By immunohistochemistry, 23/35 were positive for HMB45, 23/34 for melan-A, 15/25 for MiTF, 20/35 for smooth muscle actin, 26/35 for desmin, and 3/20 for TFE3. Focal cytoplasmic S100 protein was present in 5/27 cases, 2/25 cases were positive for KIT, and 1 case each was positive for EMA and keratin. Follow-up information was available for 31 patients (median 36 mo; range, 2 to 176 mo). Thirteen patients have developed metastases (10 liver, 3 peritoneum, 4 lymph node, 3 lung, 1 bone, 1 brain, and 1 adrenal). Thus far, 5 patients have died of disease. Metastases were significantly associated with marked atypia, diffuse pleomorphism, and mitoses ≥2/10 HPF. In summary, PEComas of the GI tract occur at similar frequency in female and male patients, most commonly involve the colon, and exhibit variable clinical behavior, ranging from benign lesions to aggressive, high-grade sarcomas. The presence of marked nuclear atypia, diffuse pleomorphism, and mitotic activity are the strongest predictors of malignant behavior.
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Esheba GES, Esheba NES. Angiomyolipoma of the kidney: clinicopathological and immunohistochemical study. J Egypt Natl Canc Inst 2013; 25:125-34. [PMID: 23932749 DOI: 10.1016/j.jnci.2013.05.002] [Citation(s) in RCA: 21] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/30/2013] [Revised: 05/03/2013] [Accepted: 05/14/2013] [Indexed: 11/29/2022] Open
Abstract
OVERVIEW Although angiomyolipoma (AML) is a relatively rare entity, it is the most common benign mesenchymal neoplasm of the kidney. THE AIM OF THIS STUDY To highlight the clinicopathological characteristics of AML and to assess the role of Human Melanoma Black-45 (HMB-45), Melan-A, smooth muscle actin (SMA), S-100 and cytokeratin in its diagnosis. MATERIALS AND METHODS The study included 15 cases of AML. Clinical and radiological data were retrieved from the archival files and all cases were subjected to a histopathological evaluation as well as immunohistochemical staining for HMB-45, Melan-A, SMA, S-100, and cytokeratin. RESULTS AML was more common in females (female:male = 4:1), the mean age was 53.9 ± 6.45 years. 60% of patients were symptomatic while the remaining 40% were asymptomatic. A statistically significant relationship was found between size of the tumor and the presence of the symptoms (P = 0.02). Patients with tumor size less than 4 cm were asymptomatic, while those with tumor size larger than 4 cm had different symptoms. Thirteen cases were classic AML, while 2 cases were epithelioid AML. Classic AML demonstrated admixture of fatty tissue, thick-walled blood vessels, and smooth muscle, while epithelioid AML was composed mainly of epithelioid cells and contained no fat. HMB-45 was positive in all cases of AML (100%), Melan-A was positive in 13/15 (87%) while SMA was positive in 11/15 (73%) of AML with variable staining intensity. All cases of AML were negative for S-100 and cytokeratin. CONCLUSION AMLs have characteristic clinicopathological and immunohistochemical features and their recognition is crucial for proper diagnosis and treatment.
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Fisher C. Unusual myoid, perivascular, and postradiation lesions, with emphasis on atypical vascular lesion, postradiation cutaneous angiosarcoma, myoepithelial tumors, myopericytoma, and perivascular epithelioid cell tumor. Semin Diagn Pathol 2013; 30:73-84. [PMID: 23327731 DOI: 10.1053/j.semdp.2012.01.006] [Citation(s) in RCA: 26] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/08/2023]
Abstract
In recent years, a number of new soft tissue tumor entities have been described that occur in the skin only, or that also occur in other sites but form clinically and pathologically distinct subsets when arising in the skin and subcutaneous tissue. These include a variety of mesenchymal lineages and have variable malignant potential, although superficial malignant soft tissue tumors generally have a more favorable outcome than their more deeply located counterparts. This article reviews the clinical and pathologic features and differential diagnoses of atypical vascular lesion, postradiation cutaneous angiosarcoma, myoepithelioma, myopericytoma, and perivascular epithelioid cell tumor.
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Affiliation(s)
- Cyril Fisher
- Department of Histopathology, Royal Marsden Hospital, London, UK.
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Rao Q, Cheng L, Xia QY, Liu B, Li L, Shi QL, Shi SS, Yu B, Zhang RS, Ma HH, Lu ZF, Tu P, Zhou XJ. Cathepsin K expression in a wide spectrum of perivascular epithelioid cell neoplasms (PEComas): a clinicopathological study emphasizing extrarenal PEComas. Histopathology 2013; 62:642-50. [PMID: 23379905 DOI: 10.1111/his.12059] [Citation(s) in RCA: 53] [Impact Index Per Article: 4.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/06/2012] [Accepted: 10/31/2012] [Indexed: 12/17/2022]
Abstract
AIMS Recent studies have demonstrated that cathepsin K seems to be a powerful marker in identifying renal perivascular epithelioid cell neoplasms (PEComas). However, the expression in extrarenal PEComas has not been well characterized due to their rare incidence. Our aim was to investigate the expression of cathepsin K in a wide spectrum of extrarenal PEComas and evaluate its potential diagnostic usefulness in comparison with other commonly used markers. METHODS AND RESULTS Twenty-three cases of PEComa (liver, n = 9; lung, n = 1; broad ligament of uterus, n = 1; vertex subcutaneous soft tissue, n = 1; abdominal wall, n = 1; and kidney, n = 10) were selected for study. All displayed a high percentage of cells with moderately to strongly positive reactions for cathepsin K (mean 91%; range 80-100%). HMB45, Melan-A and smooth muscle actin (SMA) were expressed in 78, 87 and 87% of cases, respectively, with various percentages of positive cells (mean, 34, 40 and 38%; range 0-80, 0-90 and 0-90%). Transcription factor E3 (TFE3) was expressed strongly in only three cases; none exhibited evidence of TFE3 gene fusion or amplification. CONCLUSIONS Cathepsin K appears to be more powerful than other commonly used markers in diagnosing a wide spectrum of PEComas and distinguishing them from the majority of human cancers.
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Affiliation(s)
- Qiu Rao
- Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, China
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Cho YW, Kim KJ, Ye BD, Byeon JS, Myung SJ, Yang SK, Kim JH. [A case of a perivascular epithelioid cell tumor mimicking colon cancer]. THE KOREAN JOURNAL OF GASTROENTEROLOGY 2012; 60:377-81. [PMID: 23242022 DOI: 10.4166/kjg.2012.60.6.377] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/03/2022]
Abstract
Perivascular epithelioid cell tumor (PEComa) is extremely rare, which originated from mesenchymal cells in the intestine, and composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. We report here on a case of PEComa in the sigmoid colon. A 62-year-old woman presented with hematochzia 10 days ago. Her abdominal computed tomography scan showed a 5 cm sized intraluminal fungating heterogeneously enhanced, high density mass, which infiltrated pericolic tissue surrounding the sigmoid colon. Colonoscopy showed a purple colored polypoid mass with lobulating contour in the sigmoid colon. She underwent laparoscopic anterior resection. On the histologic examination, the tumor consisted of polygonal epithelioid cells with sheet-like growth of nests, which looked like alveolar tissues in lung. The tumor cells were strongly positive stained with human melanoma black-45 (HMB-45). Pathologic examination was compatible with PEComa. Sixteen months after surgery, she did well without tumor recurrence after surgery. We review the literatures concerning PEComa of the intestine focusing on endoscopic findings.
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Affiliation(s)
- Young Whan Cho
- Department of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
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Cardiac Epithelioid PEComa: Report of Two Cases and Review of the Literature. Case Rep Med 2012; 2012:521678. [PMID: 22973317 PMCID: PMC3438758 DOI: 10.1155/2012/521678] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/12/2012] [Accepted: 07/28/2012] [Indexed: 02/06/2023] Open
Abstract
Cardiac PEComa is very rare. We reported two cases of epithelioid PEComas, one in an adult and one in a 2-year-old child. Both tumors were composed of sheets of epithelioid cells with coagulation necrosis. In addition, the adult case showed marked nuclear atypia and high mitotic activity with atypical mitosis and the pediatric case showed unusual clear cell features. Immunohistochemically, both tumors were positive for HMB-45 and SMA and negative for S100 and cytokeratin. Electron microscopy was performed in the pediatric case and showed premelanosomes. The adult patient developed extensive metastasis indicating malignant behavior. Prior to the two cases, only 5 other cases of cardiac PEComa were reported and the literatures are reviewed.
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Malignant perivascular epithelioid cell tumor of the esophagus. Case Rep Pathol 2012; 2012:438505. [PMID: 22957287 PMCID: PMC3432343 DOI: 10.1155/2012/438505] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/12/2012] [Accepted: 07/17/2012] [Indexed: 12/22/2022] Open
Abstract
Malignant perivascular epithelioid cell tumor (PEComa) is a rare tumor composed of hybrid tumor cells characterized by immunoreactivity for both melanocytic and smooth muscle markers. This paper describes the uncommon esophageal location of an 8 cm PEComa in a 75-year-old Caucasian man who was presented with ingravescent dysphagia. Although PEComas arising within the gastrointestinal tract are exceptional findings, clinicians should not exclude this class of tumors in the diagnostic investigation of a bulky lesion of the esophageal wall.
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Abstract
Neuroendocrine tumors are uncommon in the female genital tract and have been described in the ovary, uterus, cervix, and vagina. Primary carcinoid tumors have not been described in the vulva. We report 3 cases in 3 middle-aged women who presented with a solitary vulvar nodule without any other associated symptoms. All were treated with simple local excision. Two tumors were composed exclusively of clear cells arranged in nests separated by fibrovascular septae. The third tumor predominantly exhibited nests of eosinophilic granular cells with scattered areas of cells showing clear cytoplasm. Immunohistochemical staining for chromogranin and neuron-specific enolase confirmed neuroendocrine differentiation in all cases. Follow-up of 5.5 to 16 years showed no evidence of recurrence or metastasis. Primary clear cell carcinoid tumors of the vulva need to be considered in the differential diagnosis of vulvar masses with clear cell features. Immunohistochemistry plays an important role in the diagnosis of these lesions.
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Finzi G, Micello D, Wizemann G, Sessa F, Capella C. Pancreatic PEComa: a case report with ultrastructural localization of HMB-45 within melanosomes. Ultrastruct Pathol 2012; 36:124-9. [PMID: 22471435 DOI: 10.3109/01913123.2011.642463] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
Abstract
PEComas (perivascular epithelioid cell tumors) represent a group of mesenchymal neoplasms showing characteristic morphologic, immunohistochemical, ultrastructural, and genetic features. These neoplasms are usually considered benign, being often well circumscribed by a thin capsule and showing scarce atypia. However, in some cases, they show local invasion and multiple metastases and cause the patient's death. PEComas have been found in many locations, but only 7 cases have been described in the pancreas to date. Here, the authors report an additional case of this rare neoplasm and demonstrate the HMB-45 immunoreactivity of melanosomes or premelanosomes at the ultrastructural level.
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Affiliation(s)
- Giovanna Finzi
- Department of Pathology, Ospedale di Circolo, Varese, Italy.
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Abstract
Many soft tissue tumors of childhood lack obvious differentiation toward a defined mesenchymal tissue type or have a phenotype that does not correspond to any defined normal tissue. These challenging tumors are currently regarded as neoplasms of uncertain differentiation. Nonetheless, there have been great strides in the understanding of their pathologic and genetic features and biologic underpinnings. The application of new genetic information to the pathologic diagnosis among this group of tumors is an emerging area in diagnostic pediatric pathology. This article reviews the clinicopathologic features of tumors of uncertain and/or miscellaneous origin, with an emphasis on the unique aspects of these neoplasms in children and adolescents, use of diagnostic adjuncts, and differential diagnosis.
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Affiliation(s)
- Rita Alaggio
- Department of Pathology, University of Padova, Padova, Italy.
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