|
1
|
Izubuchi Y, Tanaka T. PEComa-its clinical features, histopathology, and current therapy. Jpn J Clin Oncol 2025:hyaf056. [PMID: 40336169 DOI: 10.1093/jjco/hyaf056] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/06/2024] [Accepted: 03/22/2025] [Indexed: 05/09/2025] Open
Abstract
Perivascular epithelioid cell tumors (PEComas) are a rare family of mesenchymal tumors that includes angiomyolipoma, lymphangioleiomyomatosis, pulmonary clear cell "sugar" tumors, and PEComa-not otherwise specified. This study aimed to provide a comprehensive review of the clinical features, molecular biology, and current status of PEComa treatment. It reportedly occurs at several sites, including the uterus, kidney, liver, lung, abdominopelvic soft tissue, gastrointestinal organs, retroperitoneum, soft tissue, bone, and skin. More common in women, it occurs in young to middle-aged people. Although the disease generally follows a benign course, cases of malignant PEComa have been reported. Malignant PEComa is characterized by a large tumor size, a high mitotic rate, and the presence of necrosis and nuclear atypia. Immunohistochemically, PEComas typically express melanocytic markers such as human melanoma black 45 (HMB45) and melanoma antigen (melan-A) and muscle markers such as smooth muscle actin (α-SMA), desmin, and caldesmon. More recently, a subtype of PEComa harboring TFE3 gene rearrangement that is mutually exclusive with tuberous sclerosis complex (TSC) mutations has been identified. The identification of TFE3 gene rearrangement can help confirm the diagnosis. The distinctive features of these TFE3-rearranged PEComas include a young-age tendency, the absence of an association with tuberous sclerosis, predominant alveolar architecture and epithelioid cytology, minimal immunoreactivity for muscle markers, and strong (3+) TFE3 immunoreactivity. Surgery is the curative treatment of choice; however, there are reports of cases and randomized controlled trials showing the efficacy of mTOR inhibitors. To the best of our knowledge, there are no reports of radiation therapy's efficacy.
Collapse
Affiliation(s)
- Yuya Izubuchi
- Department of Orthopaedics and Rehabilitaion Medicine, Unit of Surgery, Division of Medicine, Faculty of Medical Sciences, University of Fukui 23-3, Matsuokashimoaizuki, Eiheiji-cho, Yoshida-gun, Fukui 910-1193, Japan
| | - Takaaki Tanaka
- Department of Orthopaedics and Rehabilitaion Medicine, Unit of Surgery, Division of Medicine, Faculty of Medical Sciences, University of Fukui 23-3, Matsuokashimoaizuki, Eiheiji-cho, Yoshida-gun, Fukui 910-1193, Japan
| |
Collapse
|
|
2
|
Konopka KE, Kazerooni EA, Han MK, Myers JL. A Novel Case of Pulmonary Sclerosing Diffuse PEComatosis With Neuroendocrine Cell Hyperplasia. Am J Surg Pathol 2025; 49:411-415. [PMID: 39815602 DOI: 10.1097/pas.0000000000002354] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/18/2025]
Abstract
Proliferations of neoplastic perivascular epithelioid cells (PECs) may occur within the lung and extrathoracic sites. The term "PEComatosis" is applied to multiple or diffuse microscopic proliferations of neoplastic PECs. Pulmonary diffuse PEComatosis is extremely rare, with only one case documented in the literature to date. We herein report a novel sclerosing variant of diffuse PEComatosis in a 68-year-old woman with clinical tuberous sclerosis complex (TSC), who underwent lung resection for evaluation of persistent, bilateral ground glass opacities. The patient had no respiratory complaints or ventilatory defects in pulmonary function tests. The morphologic features resembled the previous description of pulmonary diffuse PEComatosis, showing interstitial nodular and diffuse proliferation of predominantly clear epithelioid cells with PEC differentiation by immunohistochemistry. The PEComatous proliferation was accompanied by a pattern of sclerosis that overlapped with the sclerosing variant of PEComa. There was no evidence of lymphangioleiomyomatosis. The changes were complicated by neuroendocrine cell hyperplasia, which has not previously been reported in the lungs of patients with TSC.
Collapse
Affiliation(s)
| | | | - MeiLan K Han
- Division of Pulmonary and Critical Care Medicine, University of Michigan, Ann Arbor, MI
| | | |
Collapse
|
|
3
|
Sholan R, Aliyev R, Sultan M, Almazkhanli A, Karim S, Gasimov J. Renal PEComa in a young male: A case report and insights from the literature. Urol Case Rep 2025; 58:102890. [PMID: 39687277 PMCID: PMC11646740 DOI: 10.1016/j.eucr.2024.102890] [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: 10/22/2024] [Revised: 11/15/2024] [Accepted: 11/20/2024] [Indexed: 12/18/2024] Open
Abstract
Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal neoplasms, commonly found in the uterus and retroperitoneum. Renal PEComas are exceedingly rare, often posing diagnostic challenges due to their resemblance to renal cell carcinoma (RCC) on imaging. We present the case of an 18-year-old male who presented with non-specific symptoms of fever, chills, and shivering. Imaging revealed a renal mass, initially suspected to be RCC. However, following a right radical nephrectomy, histopathological examination confirmed the diagnosis of malignant PEComa. This case highlights the rarity of renal PEComa and underscores the importance of early diagnosis and appropriate surgical management to prevent complications.
Collapse
Affiliation(s)
- Rashad Sholan
- Scientific Research Center, State Security Service Military Hospital, Baku, Azerbaijan
| | - Rufat Aliyev
- Scientific Research Center, State Security Service Military Hospital, Baku, Azerbaijan
| | - Malahat Sultan
- Department of Radiology, Azerbaijan Medical University, Baku, Azerbaijan
| | - Anar Almazkhanli
- Department of Kidney Diseases and Organ Transplantation, State Security Service Military Hospital, Baku, Azerbaijan
| | - Savalan Karim
- Department of Pathology, State Security Service Military Hospital, Baku, Azerbaijan
| | - Jalal Gasimov
- Department of the Emergency Medicine, State Security Service Military Hospital, Baku, Azerbaijan
| |
Collapse
|
|
4
|
Bennett JA, Pinto A. The "Other" Uterine Mesenchymal Neoplasms: Recent Developments and Emerging Entities. Adv Anat Pathol 2024; 31:380-396. [PMID: 38623604 DOI: 10.1097/pap.0000000000000440] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 04/17/2024]
Abstract
Uterine mesenchymal neoplasms are a challenging group of tumors that often show overlapping morphologic features and immunohistochemical profiles. The increasing use of molecular testing in these tumors has enabled a better appreciation of their pathobiology, resulting in a wave of emerging neoplasms and improved characterization of ones previously considered exceptionally rare. Identification of specific molecular alterations has permitted targeted therapy options in tumors that were typically unresponsive to conventional therapies, as well as recognition that a subset can have a hereditary basis. This review will discuss the more "common" of the uncommon uterine mesenchymal neoplasms, including inflammatory myofibroblastic tumor, perivascular epithelioid cell tumor, uterine tumor resembling ovarian sex cord tumor, and embryonal rhabdomyosarcoma. This will be followed by an overview of emerging entities, including NTRK -rearranged uterine sarcoma, SMARCA4 -deficient uterine sarcoma, KAT6B/A::KANSL1 fusion uterine sarcoma, and MEIS1::NCOA2/1 fusion sarcoma.
Collapse
Affiliation(s)
| | - Andre Pinto
- Department of Pathology and Laboratory Medicine, University of Miami, Miami, FL
| |
Collapse
|
|
5
|
Xu W, Ma R, Li Y, Hu Z, Zhang G, Hu J, Hei Y, Yang X. Perivascular epithelioid cell tumor of the lacrimal gland. Orbit 2024; 43:362-365. [PMID: 36734431 DOI: 10.1080/01676830.2022.2141804] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/07/2022] [Accepted: 10/25/2022] [Indexed: 02/04/2023]
Abstract
A 33-year-old lady was referred to our clinic with a history of left upper eyelid swelling and difficulty to open her left eye for more than 4 years. Her globe was in infero-nasal displacement, and ocular movement was not full, with restriction to every direction. No clinical sign including eye redness, pain or visual loss was found on examination. Exophthalmometry confirmed 2 mm of left-sided proptosis. Computed tomography (CT) imaging of the orbit obtained in axial and coronal planes depicted an irregular and heterogeneous soft-tissue density mass in the left lacrimal gland, measuring 25 × 17 mm. Magnetic resonance imaging (MRI) revealed the mass of slightly longer T1 and slightly longer/shorter T2 signal, and Gd-enhanced MRI showed a significant enhancement. The tumor was first presumably diagnosed of pleomorphic adenomas. A surgery was applied to remove the tumor completely. Histopathological evaluation led to the diagnosis of PEComa.
Collapse
Affiliation(s)
- Wenqin Xu
- Department of Orbital Disease, Department of Ophthalmology, The Third Medical Center of PLA General Hospital, Beijing, China
| | - Rui Ma
- Department of Orbital Disease, Department of Ophthalmology, The Third Medical Center of PLA General Hospital, Beijing, China
| | - Yueyue Li
- Department of Orbital Disease, Department of Ophthalmology, The Third Medical Center of PLA General Hospital, Beijing, China
| | - Zhicha Hu
- Department of Orbital Disease, Department of Ophthalmology, The Third Medical Center of PLA General Hospital, Beijing, China
| | | | - Jian Hu
- Department of Orbital Disease, Department of Ophthalmology, The Third Medical Center of PLA General Hospital, Beijing, China
| | - Yan Hei
- Department of Orbital Disease, Department of Ophthalmology, The Third Medical Center of PLA General Hospital, Beijing, China
| | - Xinji Yang
- Department of Orbital Disease, Department of Ophthalmology, The Third Medical Center of PLA General Hospital, Beijing, China
| |
Collapse
|
|
6
|
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.
Collapse
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.
| |
Collapse
|
|
7
|
Cui Q, Li C, Huang T, Huang J, Chen M. Systematic analysis of perivascular epithelioid cell neoplasms in the female reproductive tract: a comprehensive review. Future Oncol 2024; 20:283-295. [PMID: 38426361 DOI: 10.2217/fon-2023-0778] [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: 03/02/2024] Open
Abstract
Perivascular epithelioid cell neoplasms (PEComas) are rare mesenchymal lesions, with gynecological PEComas accounting for just over a quarter of cases. Limited reports exist on gynecological PEComa, primarily treated with surgery; adjuvant therapy is considered in high-risk cases. This systematic review aims to summarize the origin and clinical, pathological and molecular characteristics of uterine PEComa, focusing on treatment options for gynecological PEComa. A comprehensive PubMed review of gynecological PEComa reports was conducted. A detailed examination of the literature ensured a thorough understanding. Gynecological PEComa diagnosis relies on histology and immunology. Despite therapy controversies, surgery remains the mainstay. Adjuvant therapy efficacy in high-risk cases is uncertain. mTOR inhibitors are the first line; alternative treatments, including angiogenesis and aromatase inhibitors, should be considered.
Collapse
Affiliation(s)
- Qiulin Cui
- Department of Gynecology, First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China
| | - Cheng Li
- Department of Gynecology, First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China
| | - Tongyi Huang
- Department of Clinical Medical Ultrasonics, Division of Interventional Ultrasound, Institute of Diagnostic & Interventional Ultrasound, First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China
| | - Jiaming Huang
- Department of Gynecology, First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China
| | - Ming Chen
- Department of Gynecology, First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China
| |
Collapse
|
|
8
|
Izubuchi Y, Hamada S, Tanzawa Y, Fujita I, Imanishi J, Koyanagi H, Shimatani A, Komatsubara T, Tanaka T, Fukushima M, Imamura Y, Ueda T, Kawano H, Matsumine A. Perivascular epithelioid cell tumors (PEComas) of the bone and soft tissue: a Japanese Musculoskeletal Oncology Group (JMOG) multi-institutional study. J Cancer Res Clin Oncol 2023; 149:13065-13075. [PMID: 37470853 PMCID: PMC10587015 DOI: 10.1007/s00432-023-05114-1] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/17/2023] [Accepted: 07/04/2023] [Indexed: 07/21/2023]
Abstract
PURPOSE Perivascular epithelioid cell tumors (PEComas) of the bone and soft tissues are rare mesenchymal neoplasms, some of which are malignant. However, their clinical and pathological characteristics remain unclear. This study was performed to investigate the clinical and pathological characteristics of PEComas in bone and soft tissues by leveraging information from the Japanese Musculoskeletal Oncology Group. METHODS Nine patients, including four male and five female patients with a median age of 50 years, were retrospectively reviewed. PEComas of the visceral organs, including the uterus and retroperitoneum, were excluded. RESULTS Eight tumors arose in the soft tissue and one in the bone, with a mean size of 8.8 cm. Four patients showed local recurrence or distant metastasis. The 1-year survival rate was 78%. Pathologically, eight tumors were classified as malignant and one as having uncertain malignancy potential. Half of the tumors showed high MIB-1 index values of > 30%. Immunohistochemically, the melanocyte marker HMB45 was expressed in 89% of the cases, and muscle-specific markers were expressed only in 30-50% of the cases. Transcription factor binding to IGHM enhancer 3 (TFE3) expression was positive in 100% of the patients. Tumors with high expression of TFE3 were classified as PEComas with malignant potential according to Folpe's classification. CONCLUSIONS Bone and soft tissue PEComas may have a higher malignancy potential than other visceral PEComas and are more likely to develop as TFE3-rearranged PEComas.
Collapse
Affiliation(s)
- Yuya Izubuchi
- Department of Orthopaedics and Rehabilitation Medicine, Unit of Surgery, Division of Medicine, Faculty of Medical Sciences, University of Fukui, 23-3 Matsuokashimoaizuki, Eiheiji-cho, Yoshida-gun, Fukui, 910-1193, Japan
| | - Shunsuke Hamada
- Department of Orthopaedic Surgery, Aichi Cancer Center Hospital, Nagoya, Japan
| | - Yoshikazu Tanzawa
- Department of Orthopaedic Surgery, Surgical Science, Tokai University School of Medicine, Kanagawa, Japan
| | - Ikuo Fujita
- Department of Orthopaedic Surgery, Hyogo Cancer Center, Akashi, Japan
| | - Jungo Imanishi
- Department of Orthopaedic Oncology and Surgery, Saitama Medical University International Medical Center, Hidaka, Japan
| | - Hirotaka Koyanagi
- Department of Orthopaedic Surgery, Tokyo Medical and Dental University, Tokyo, Japan
| | - Akiyoshi Shimatani
- Department of Orthopedic Surgery, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan
| | - Tadashi Komatsubara
- Department of Musculoskeletal Oncology and Rehabilitation, National Cancer Center Hospital, Tokyo, Japan
| | - Takaaki Tanaka
- Department of Orthopaedics and Rehabilitation Medicine, Unit of Surgery, Division of Medicine, Faculty of Medical Sciences, University of Fukui, 23-3 Matsuokashimoaizuki, Eiheiji-cho, Yoshida-gun, Fukui, 910-1193, Japan
| | - Mana Fukushima
- Department of Tumor Pathology, Faculty of Medical Sciences, University of Fukui, Fukui, Japan
| | - Yoshiaki Imamura
- Division of Diagnostic Pathology/Surgical Pathology, University of Fukui Hospital, Fukui, Japan
| | - Takafumi Ueda
- Department of Orthopaedic Surgery, National Hospital Organization Osaka National Hospital, Osaka, Japan
| | - Hirotaka Kawano
- Department of Orthopaedic Surgery, Teikyo University School of Medicine, Tokyo, Japan
| | - Akihiko Matsumine
- Department of Orthopaedics and Rehabilitation Medicine, Unit of Surgery, Division of Medicine, Faculty of Medical Sciences, University of Fukui, 23-3 Matsuokashimoaizuki, Eiheiji-cho, Yoshida-gun, Fukui, 910-1193, Japan.
| |
Collapse
|
|
9
|
Apte SS, Mor E, Mitchell C, Gyorki DE. Practical Management of Adult Ultra-Rare Primary Retroperitoneal Soft Tissue Sarcoma: A Focus on Perivascular Epithelioid Tumours and Extraosseous Ewing Sarcoma. Curr Oncol 2023; 30:5953-5972. [PMID: 37504306 PMCID: PMC10377910 DOI: 10.3390/curroncol30070445] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/22/2023] [Revised: 06/16/2023] [Accepted: 06/20/2023] [Indexed: 07/29/2023] Open
Abstract
With the exception of well-differentiated liposarcoma, dedifferentiated liposarcoma, leiomyosarcoma, solitary fibrous tumour, malignant peripheral nerve sheath tumour, and undifferentiated pleomorphic sarcoma, the majority of the ≈70 histologic subtypes of retroperitoneal sarcoma are defined as 'ultra-rare' sarcomas, with an incidence of ≤1-5/1,000,000 persons/year. For most of these ultra-rare RPS subtypes, diagnosis and treatment follows international guidelines for the management of more common RPS histologies, with en bloc surgical resection as the mainstay of curative treatment, and enrolment in clinical trials where possible. Because the treatment of RPS is heavily driven by histology, the surgeon must be familiar with specific issues related to the diagnosis and management of ultra-rare sarcoma subtypes. Expert radiological and surgeon reviews are required to differentiate similarly presenting tumours where surgery can be avoided (e.g., angiomyolipoma), or where upfront systemic therapy is indicated (e.g., extraosseous Ewing's sarcoma). Thus, the management of all retroperitoneal sarcomas should occur at a sarcoma referral centre, with a multidisciplinary team of experts dedicated to the surgical and medical management of these rare tumours. In this focused review, we highlight how diagnosis and management of the ultra-rare primary RPS histologies of malignant perivascular epithelioid cell tumour (PEComa), extraosseous Ewing sarcoma (EES), extraosseous osteosarcoma (EOS), and rhabdomyosarcoma (RMS) critically diverge from the management of more common RPS subtypes.
Collapse
Affiliation(s)
- Sameer S Apte
- Division of Cancer Surgery, Peter MacCallum Cancer Centre, Melbourne, VIC 3000, Australia
- Division of General Surgery, The Ottawa Hospital, Ottawa, ON K1H 8L6, Canada
| | - Eyal Mor
- Division of Cancer Surgery, Peter MacCallum Cancer Centre, Melbourne, VIC 3000, Australia
| | - Catherine Mitchell
- Division of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC 3000, Australia
| | - David E Gyorki
- Division of Cancer Surgery, Peter MacCallum Cancer Centre, Melbourne, VIC 3000, Australia
| |
Collapse
|
|
10
|
Chen Q, Wang P, Zhang X, Zhang J. Rare perivascular epithelial cell tumor of the colon 18F-FDG PET/CT imaging: A case report. Medicine (Baltimore) 2023; 102:e33802. [PMID: 37335716 PMCID: PMC10194671 DOI: 10.1097/md.0000000000033802] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/23/2023] [Accepted: 04/27/2023] [Indexed: 06/21/2023] Open
Abstract
RATIONALE Neoplasms with perivascular epithelioid cell differentiation (PEComas) are mesenchymal tumors that rarely occur in the colon. Here, we report the occurrence of a malignant PEcoma in the colon using 18F-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT). PATIENT CONCERNS A 55-year-old woman was admitted to the hospital with abdominal pain for 10 days and a self-induced abdominal mass for 3 days. 18F-FDG PET/CT imaging showed a large hypermetabolic nodule and mass in the right mid-upper abdomen with heterogeneous density and a further increase in metabolism on the delayed scan. DIAGNOSES PEComa of the colon. INTERVENTIONS Tumor resection was performed. OUTCOMES The patient is well after 2 months of treatment, pending further follow-up. LESSONS Malignant perivascular epithelioid cell tumors originating in the colon are extremely rare, and our report suggests that PEComa should be considered as a differential diagnosis for 18F-FDG gastrointestinal malignancies. Additionally, 18F-FDG PET/CT may play a key role in the staging and extent of lesions in intestinal malignancies.
Collapse
Affiliation(s)
- Qianqian Chen
- Guangzhou University of Chinese Medicine, Guangzhou, China
- Department of Nuclear Medicine, General Hospital of Southern Theater Command, Guangzhou, China
| | - Peiqi Wang
- Department of Nuclear Medicine, General Hospital of Southern Theater Command, Guangzhou, China
| | - Xiao Zhang
- Department of Nuclear Medicine, General Hospital of Southern Theater Command, Guangzhou, China
| | - Jinhe Zhang
- Department of Nuclear Medicine, General Hospital of Southern Theater Command, Guangzhou, China
| |
Collapse
|
|
11
|
Meredith L, Chao T, Nevler A, Basu Mallick A, Singla RK, McCue PA, Bowne WB, Jiang W. A rare metastatic mesenteric malignant PEComa with TSC2 mutation treated with palliative surgical resection and nab-sirolimus: a case report. Diagn Pathol 2023; 18:45. [PMID: 37041531 PMCID: PMC10088294 DOI: 10.1186/s13000-023-01323-x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/26/2022] [Accepted: 03/05/2023] [Indexed: 04/13/2023] Open
Abstract
BACKGROUND Malignant perivascular epithelioid cell tumors (PEComas) are exceedingly rare malignant mesenchymal neoplasms with characteristic morphological and immunohistochemical (IHC) patterns. However, some malignant PEComas are poorly differentiated with atypical histopathological features, making a definitive diagnosis difficult. PEComas are most commonly found in females and often show either TSC1 or TSC2 alterations, which result in the activation of the mTOR pathway, or TFE3 fusions. Given these molecular characteristics, mTOR inhibitors have recently been approved by the FDA in the treatment of malignant PEComas, particularly in those with TSC1/2 alterations. Therefore, molecular analyses may be helpful for both the diagnostic workup of and predicting response to mTOR inhibitors in cases of malignant PEComas. CASE PRESENTATION Here, we report a case of an aggressive, 23 cm mesenteric malignant PEComa with multiple peritoneal metastases in a young male patient. Pathological examination of the initial biopsy showed a malignant epithelioid neoplasm with high-grade morphology and atypical immunoprofile, which precluded a definitive diagnosis. Because of the patient's excessive transfusion requirements due to intra-tumoral hemorrhage, a palliative R2 resection was performed. Histopathological examination of the tumor revealed focal immunoreactivity for Melan-A, HMB-45, desmin, and CD117. Although a diagnosis of malignant PEComa was favored, other entities such as epithelioid gastrointestinal stromal tumor (GIST) or melanoma could not be definitively ruled out. Given the favored diagnosis, the patient was started on sirolimus, an mTOR inhibitor, rather than chemotherapy. Molecular analyses were performed and the tumor was found to harbor mutations in TP53 and TSC2, supporting a definitive diagnosis of malignant PEComa. The patient was then switched to nab-sirolimus, with initial stabilization of the disease. CONCLUSIONS This report details a multidisciplinary approach for the diagnosis and management of a highly aggressive, metastatic malignant PEComa in a young male patient. The basis for the treatment of malignant PEComas with the recently FDA-approved mTOR inhibitor, nab-sirolimus, is also reviewed. In summary, this case highlights the importance of molecular analysis, particularly TSC1/2 alterations, for both the definitive diagnosis of malignant PEComas and predicting their response to nab-sirolimus.
Collapse
Affiliation(s)
- Luke Meredith
- Department of Surgery, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, 19107, USA
| | - Timothy Chao
- Department of Pathology and Genomic Medicine, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, 19107, USA
| | - Avinoam Nevler
- Department of Surgery, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, 19107, USA
| | - Atrayee Basu Mallick
- Department of Medical Oncology, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, 19107, USA
| | - Rajan K Singla
- Department of Medical Oncology, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, 19107, USA
| | - Peter A McCue
- Department of Pathology and Genomic Medicine, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, 19107, USA
| | - Wilbur B Bowne
- Department of Surgery, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, 19107, USA
| | - Wei Jiang
- Department of Pathology and Genomic Medicine, Sidney Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, 19107, USA.
| |
Collapse
|
|
12
|
Galea LA, Hildebrand MS, Boys A, Joy C, Chee J, White G. Sclerosing perivascular epithelioid cell tumour (PEComa) of the testis in a patient with tuberous sclerosis complex. Pathology 2023; 55:143-146. [PMID: 35644639 DOI: 10.1016/j.pathol.2022.02.012] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/06/2021] [Revised: 02/10/2022] [Accepted: 02/16/2022] [Indexed: 01/24/2023]
Affiliation(s)
- Laurence A Galea
- Department of Anatomical Pathology, Melbourne Pathology (Sonic Healthcare), Vic, Australia.
| | - Michael S Hildebrand
- Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Vic, Australia; Neuroscience Group, Murdoch Children's Research Institute, Royal Children's Hospital, Vic, Australia
| | - Amber Boys
- Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, Vic, Australia
| | - Christopher Joy
- Department of Cytogenetics, Sullivan Nicolaides Pathology (Sonic Healthcare), Brisbane, Qld, Australia
| | - Justin Chee
- Epworth Healthcare, Epworth Freemasons, Melbourne, Vic, Australia
| | - Gordon White
- Department of Anatomical Pathology, Melbourne Pathology (Sonic Healthcare), Vic, Australia
| |
Collapse
|
|
13
|
Kundu R, Saha PK, Dey P. Sclerosing Perivascular Epithelioid Cell Tumor of the Uterus: A Rare Entity Posing Diagnostic Challenge. J Midlife Health 2022; 13:328-330. [PMID: 37324788 PMCID: PMC10266564 DOI: 10.4103/jmh.jmh_120_22] [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: 07/03/2022] [Revised: 01/03/2023] [Accepted: 02/13/2023] [Indexed: 06/17/2023] Open
Abstract
Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal uterine tumor and the histological variant, sclerosing PEComa is exceedingly rare. Sclerosing PEComas preferentially occur in the retroperitoneum and occurrence in the uterine corpus is seldom seen. These tumors pose a diagnostic challenge and need distinction from morphological mimickers such as epithelioid smooth muscle tumors, endometrial stromal sarcoma, and metastatic carcinoma. Accurate diagnosis can be established coupling histomorphology with immunostaining. The distinction from other entities is of prime importance considering the therapeutic and prognostic implications. Herein, we describe a case of uterine sclerosing variant of PEComa with diagnostic difficulties and key to diagnose this entity.
Collapse
Affiliation(s)
- Reetu Kundu
- Department of Cytology and Gynecological Pathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
| | - Pradip Kumar Saha
- Department of Gynecology and Obstetrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India
| | - Pranab Dey
- Department of Cytology and Gynecological Pathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
| |
Collapse
|
|
14
|
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.
Collapse
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
| |
Collapse
|
|
15
|
Cazzato G, Colagrande A, Lospalluti L, Pacello L, Lettini T, Arezzo F, Loizzi V, Lupo C, Casatta N, Cormio G, Maiorano E, Ingravallo G, Resta L. Primitive Cutaneous (P)erivascular (E)pithelioid (C)ell Tumour (PEComa): A New Case Report of a Rare Cutaneous Tumor. Genes (Basel) 2022; 13:1153. [PMID: 35885936 PMCID: PMC9317609 DOI: 10.3390/genes13071153] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/20/2022] [Revised: 06/23/2022] [Accepted: 06/24/2022] [Indexed: 02/04/2023] Open
Abstract
Perivascular epithelioid cell tumours (PEComas) are a growing family of tumours composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. Cutaneous primitive PEComas (cPEComas) are very rare, with 65 cases described in the English literature, and occur as a painless lesion predominantly in female patients, with a wide age range. We present a new case of cPEComa found on the left thigh of a 53-year-old patient with histopathological, immunohistochemical, and molecular information. The lesion was positive for HMB-45 and focal for smooth muscle actin and desmin but negative for melan-A, S-100 protein, CD31, and CD34. Next generation sequencing (NGS) analysis demonstrated the presence of genomic aberration for baculoviral IAP repeats containing BIRC3 splice site 1622-27_1631del37. Although there are little molecular data regarding this entity, our case adds to this knowledge, considering the importance of detecting genomic aberrations in the context of specific therapies such as mTOR inhibitors.
Collapse
Affiliation(s)
- Gerardo Cazzato
- Section of Molecular Pathology, Department of Emergency and Organ Transplantation (DETO), University of Bari “Aldo Moro”, 70124 Bari, Italy; (A.C.); (T.L.); (E.M.); (G.I.); (L.R.)
| | - Anna Colagrande
- Section of Molecular Pathology, Department of Emergency and Organ Transplantation (DETO), University of Bari “Aldo Moro”, 70124 Bari, Italy; (A.C.); (T.L.); (E.M.); (G.I.); (L.R.)
| | - Lucia Lospalluti
- Section of Dermatology and Venereology, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari “Aldo Moro”, 70124 Bari, Italy; (L.L.); (L.P.)
| | - Lucia Pacello
- Section of Dermatology and Venereology, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari “Aldo Moro”, 70124 Bari, Italy; (L.L.); (L.P.)
| | - Teresa Lettini
- Section of Molecular Pathology, Department of Emergency and Organ Transplantation (DETO), University of Bari “Aldo Moro”, 70124 Bari, Italy; (A.C.); (T.L.); (E.M.); (G.I.); (L.R.)
| | - Francesca Arezzo
- Section of Gynecology and Obstetrics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari “Aldo Moro”, 70124 Bari, Italy; (F.A.); (V.L.)
| | - Vera Loizzi
- Section of Gynecology and Obstetrics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari “Aldo Moro”, 70124 Bari, Italy; (F.A.); (V.L.)
| | - Carmelo Lupo
- Innovation Department, Diapath S.P.A., Via Savoldini n.71, 24057 Martinengo, Italy; (C.L.); (N.C.)
| | - Nadia Casatta
- Innovation Department, Diapath S.P.A., Via Savoldini n.71, 24057 Martinengo, Italy; (C.L.); (N.C.)
| | - Gennaro Cormio
- Gynecologic Oncology Unit, IRCCS Istituto Tumori “Giovanni Paolo II”, 70124 Bari, Italy;
- Department of Interdisciplinary Medicine (DIM), University of Bari “Aldo Moro”, 70124 Bari, Italy
| | - Eugenio Maiorano
- Section of Molecular Pathology, Department of Emergency and Organ Transplantation (DETO), University of Bari “Aldo Moro”, 70124 Bari, Italy; (A.C.); (T.L.); (E.M.); (G.I.); (L.R.)
| | - Giuseppe Ingravallo
- Section of Molecular Pathology, Department of Emergency and Organ Transplantation (DETO), University of Bari “Aldo Moro”, 70124 Bari, Italy; (A.C.); (T.L.); (E.M.); (G.I.); (L.R.)
| | - Leonardo Resta
- Section of Molecular Pathology, Department of Emergency and Organ Transplantation (DETO), University of Bari “Aldo Moro”, 70124 Bari, Italy; (A.C.); (T.L.); (E.M.); (G.I.); (L.R.)
| |
Collapse
|
|
16
|
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.
Collapse
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.
| |
Collapse
|
|
17
|
Fibroma-like PEComa: a newly recognized soft tissue neoplasm in tuberous sclerosis patients-imaging features and review of literature. Skeletal Radiol 2022; 51:881-887. [PMID: 34586486 DOI: 10.1007/s00256-021-03923-4] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/11/2021] [Revised: 09/20/2021] [Accepted: 09/23/2021] [Indexed: 02/02/2023]
Abstract
Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal neoplasms composed of spindled to epithelioid cells that co-express both melanocytic and myogenic markers. Recently, in 2018, a distinctive variant of PEComa has been described that arises in association with tuberous sclerosis complex (TSC) and resembles a fibroma by conventional morphology (called fibroma-like PEComa). Herein, we describe a case of a fibroma-like PEComa in a 4-year-old male child with a known diagnosis of tuberous sclerosis who presented with a firm mass along the anteromedial aspect of the right knee. The mass was excised, and microscopic examination showed bland spindled to stellate cells embedded in a dense collagenous stroma, morphologically resembling a fibroma. Immunohistochemistry analysis showed positivity for desmin (a myogenic marker) and HMB45 (a melanocytic marker), a hallmark for PEComas. To our knowledge, only six cases of fibroma-like PEComa have been described in the literature so far and this is the first report of such a tumor in the medial retinaculum of the knee joint with illustrations of conventional and diffusion imaging features. This case highlights the unique association of fibroma-like PEComa lesions with TSC. This should be considered a differential diagnosis for T2 hypointense masses in tuberous sclerosis patients. In addition, a diagnosis of fibroma-like PEComa should prompt further evaluation for associated TSC.
Collapse
|
|
18
|
TSC2-mutant uterine sarcomas with JAZF1-SUZ12 fusions demonstrate hybrid features of endometrial stromal sarcoma and PEComa and are responsive to mTOR inhibition. Mod Pathol 2022; 35:117-127. [PMID: 34561551 DOI: 10.1038/s41379-021-00922-7] [Citation(s) in RCA: 20] [Impact Index Per Article: 6.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/16/2021] [Revised: 08/31/2021] [Accepted: 08/31/2021] [Indexed: 11/08/2022]
Abstract
Uterine perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal neoplasm that occasionally shares morphologic and immunohistochemical overlap with low- and high-grade endometrial stromal sarcoma (LGESS and HGESS). In this study, we sought to characterize the clinical, morphologic, genetic, and epigenetic features of five uterine sarcomas that display histologic features of LGESS, HGESS, and PEComa. All tumors demonstrated epithelioid cells often associated with a low-grade spindled component resembling LGESS, with both regions expressing CD10, ER, PR, variable HMB45, and Melan-A immunoreactivity, and strong cathepsin K and pS6 expression. Targeted massively parallel sequencing analysis revealed the presence of somatic TSC2 mutations in all five cases, of which four harbored concurrent or consecutive JAZF1-SUZ12 gene fusions. Unsupervised hierarchical clustering analysis of methylation profiles of TSC2-mutant uterine sarcomas (n = 4), LGESS (n = 10), and HGESS (n = 12) demonstrated two clusters consisting of (1) all LGESS and TSC2-mutant uterine sarcomas and (2) all HGESS. KEGG pathway analysis detected methylation differences in genes involved in PI3K/AKT, calcium, and Rap1 signaling. TSC2-mutant uterine sarcomas were responsive to hormone suppression, and mTOR inhibition demonstrated clinical benefit in four patients with these neoplasms. Our results suggest that these tumors represent histologically distinctive LGESS with TSC2 mutations. TSC2 mutations and JAZF1-SUZ12 fusion may help diagnose these tumors and possibly direct effective treatment.
Collapse
|
|
19
|
Hsu CW, Lee AH, Lien CY, Chang HW. Malignant Perivascular Epithelioid Cell Tumour in a Savannah Monitor (Varanus exanthematicus). J Comp Pathol 2021; 188:26-31. [PMID: 34686274 DOI: 10.1016/j.jcpa.2021.08.003] [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: 05/05/2021] [Revised: 07/02/2021] [Accepted: 08/19/2021] [Indexed: 10/20/2022]
Abstract
A 9-year-old male captive savannah monitor (Varanus exanthematicus) with a history of general debility was submitted for necropsy. Grossly, there were multiple white masses in the colon, mesorchium and tracheal adventitia. Histologically, the lesions were composed of epithelioid to spindloid neoplastic cells arranged in sheets to interlacing and interwoven bundles, and separated by abundant myxoid material or extensive stromal hyalinization and fibrosis with occasional chondroid metaplasia. Perivascular infiltration of epithelioid neoplastic cells was occasionally seen. Neoplastic cells were immunopositive for alpha-smooth muscle actin, melan-A and S100. The unique histological features and concurrent myogenic and melanocytic immunophenotypes suggest a malignant perivascular epithelioid cell tumour. To our knowledge, this is the first report of perivascular epithelioid cell tumours in a non-human species.
Collapse
Affiliation(s)
- Chin-Wei Hsu
- Graduate Institute of Molecular and Comparative Pathobiology, School of Veterinary Medicine, National Taiwan University, Taipei, Taiwan
| | | | | | - Hui-Wen Chang
- Graduate Institute of Molecular and Comparative Pathobiology, School of Veterinary Medicine, National Taiwan University, Taipei, Taiwan.
| |
Collapse
|
|
20
|
Jia L, Panwar V, Parmley M, Lucas E, Pedrosa I, Kapur P. Retroperitoneal Sclerosing Angiomyolipoma with Long-Term Follow up: A Case Report with Unique Clinicopathologic and Genomic Profile. Int J Surg Pathol 2021; 30:86-90. [PMID: 34106015 DOI: 10.1177/10668969211021483] [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: 11/17/2022]
Abstract
Sclerosing angiomyolipoma (sAML) is a rare variant of the perivascular epithelioid tumors exhibiting distinct morphology with extensive stromal hyalinization, which makes it challenging to recognize. It often lacks an adipose tissue component and melanocytic markers may be expressed only focally, further posing a diagnostic challenge. Here, we report a case of sAML of the left pararenal retroperitoneum in a 52-year-old woman with 92 months of clinical follow up and discuss the histologic features, immunoprofile, molecular alterations, and differential diagnoses that can aid in the diagnosis of this unique and rare entity.
Collapse
Affiliation(s)
- Liwei Jia
- University of Texas, Southwestern Medical Center, Dallas, USA
| | - Vandana Panwar
- University of Texas, Southwestern Medical Center, Dallas, USA
| | | | - Elena Lucas
- University of Texas, Southwestern Medical Center, Dallas, USA
| | - Ivan Pedrosa
- University of Texas, Southwestern Medical Center, Dallas, USA
| | - Payal Kapur
- University of Texas, Southwestern Medical Center, Dallas, USA
| |
Collapse
|
|
21
|
Gonzalez RS, Raza A, Propst R, Adeyi O, Bateman J, Sopha SC, Shaw J, Auerbach A. Recent Advances in Digestive Tract Tumors: Updates From the 5th Edition of the World Health Organization "Blue Book". Arch Pathol Lab Med 2021; 145:607-626. [PMID: 32886739 DOI: 10.5858/arpa.2020-0047-ra] [Citation(s) in RCA: 20] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 05/12/2020] [Indexed: 11/06/2022]
Abstract
CONTEXT.— The World Health Organization Classification of Tumours: Digestive System Tumors, 5th edition, was published in 2019 and shows several impactful changes as compared with the 4th edition published in 2010. Changes include a revised nomenclature of serrated lesions and revamping the classification of neuroendocrine neoplasms. Appendiceal goblet cell adenocarcinoma is heavily revised, and intrahepatic cholangiocarcinoma is split into 2 subtypes. New subtypes of colorectal carcinoma and hepatocellular carcinoma are described. Precursor lesions are emphasized with their own entries, and both dysplastic and invasive lesions are generally recommended to be graded using a 2-tier system. Hematolymphoid tumors, mesenchymal tumors, and genetic tumor syndromes each have their own sections in the 5th edition. New hematolymphoid lesions include monomorphic epitheliotropic intestinal T-cell lymphoma; duodenal-type follicular lymphoma; intestinal T-cell lymphoma, not otherwise specified; and indolent T-cell lymphoproliferative disorder of the gastrointestinal tract. This paper will provide an in-depth look at the changes in the 5th edition as compared with the 4th edition. OBJECTIVE.— To provide a comprehensive, in-depth update on the World Health Organization classification of digestive tumors, including changes to nomenclature, updated diagnostic criteria, and newly described entities. DATA SOURCES.— The 5th edition of the World Health Organization Classification of Tumours: Digestive System Tumours, as well as the 4th edition. CONCLUSIONS.— The World Health Organization has made many key changes in its newest update on tumors of the digestive system. Pathologists should be aware of these changes and incorporate them into their practice as able or necessary.
Collapse
Affiliation(s)
- Raul S Gonzalez
- The Department of Pathology, Beth Israel Deaconess Medical Center, Boston, Massachusetts (Gonzalez)
| | - Anwar Raza
- The Department of Pathology and Human Anatomy, Loma Linda University, Loma Linda, California (Raza, Propst)
| | - Robert Propst
- The Department of Pathology and Human Anatomy, Loma Linda University, Loma Linda, California (Raza, Propst)
| | - Oyedele Adeyi
- The Department of Pathology, University of Minnesota, Minneapolis (Adeyi, Bateman)
| | - Justin Bateman
- The Department of Pathology, University of Minnesota, Minneapolis (Adeyi, Bateman)
| | - Sabrina C Sopha
- The Department of Pathology, University of Maryland Baltimore Washington Medical Center, Glen Burnie (Sopha)
| | - Janet Shaw
- The Joint Pathology Center, Silver Spring, Maryland (Shaw, Auerbach)
| | - Aaron Auerbach
- The Joint Pathology Center, Silver Spring, Maryland (Shaw, Auerbach)
| |
Collapse
|
|
22
|
PNL2: A Useful Adjunct Biomarker to HMB45 in the Diagnosis of Uterine Perivascular Epithelioid Cell Tumor (PEComa). Int J Gynecol Pathol 2021; 39:529-536. [PMID: 31851063 DOI: 10.1097/pgp.0000000000000653] [Citation(s) in RCA: 16] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/26/2022]
Abstract
Perivascular epithelioid cell tumors (PEComa) are rare neoplasms characterized by co-expression of melanocytic and muscle markers. HMB45 and Melan-A are used to confirm a PEComa diagnosis; however, both are often focally expressed and sensitivity for Melan-A is low. PNL2 is a reliable biomarker for epithelioid melanoma and renal angiomyolipoma/PEComa. The objective of this study was to determine PNL2 utility in diagnosing uterine PEComas as well as distinguishing PEComas from uterine smooth muscle tumors (SMTs). Twenty-one uterine PEComas and 45 SMTs were analyzed for PNL2; a subset was also stained for HMB45, Melan-A, Cathepsin-K, Desmin, and h-Caldesmon. Cases were scored as negative (0), focal (<10% of tumor cells), or patchy to diffusely positive (>10% of tumor cells). PEComas were positive for PNL2, HMB45, and Melan-A in 86%, 100%, and 57% of cases, respectively. In PEComas, PNL2 was patchy to diffusely positive more frequently (10/18, 56%) than Melan-A (4/12, 33%). In contrast, 2 of 45 (4%) SMTs were focally PNL2 positive; HMB45 was focally positive in 4 SMTs (11%) and all were negative for Melan-A. Desmin and h-Caldesmon were positive in 90% and 57% of PEComas, and 91% and 82% of SMTs. Cathepsin-K was positive in 100% of PEComas and 93% of SMTs. PNL2 is a useful biomarker for the diagnosis of uterine PEComa, with comparable sensitivity and specificity to HMB45. In contrast, PNL2 stains more PEComas when compared with Melan-A. Cathepsin-K, Desmin, and h-Caldesmon are of little utility for distinguishing PEComas and SMTs; however, lack of Cathepsin-K argues against PEComa. These results suggest that PNL2 should be used in conjunction with HMB45 in the diagnosis of PEComa of the uterine corpus.
Collapse
|
|
23
|
Calame P, Tyrode G, Weil Verhoeven D, Félix S, Klompenhouwer AJ, Di Martino V, Delabrousse E, Thévenot T. Clinical characteristics and outcomes of patients with hepatic angiomyolipoma: A literature review. World J Gastroenterol 2021; 27:2299-2311. [PMID: 34040323 PMCID: PMC8130035 DOI: 10.3748/wjg.v27.i19.2299] [Citation(s) in RCA: 25] [Impact Index Per Article: 6.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/27/2020] [Revised: 12/31/2020] [Accepted: 03/18/2021] [Indexed: 02/06/2023] Open
Abstract
First reported in 1976, hepatic angiomyolipoma (HAML) is a rare mesenchymal liver tumor occurring mostly in middle-aged women. Diagnosis of the liver mass is often incidental on abdominal imaging due to the frequent absence of specific symptoms. Nearly 10% of HAMLs are associated with tuberous sclerosis complex. HAML contains variable proportions of blood vessels, smooth muscle cells and adipose tissue, which renders radiological diagnosis hazardous. Cells express positivity for HMB-45 and actin, thus these tumors are integrated into the group of perivascular epithelioid cell tumors. Typically, a HAML appears on magnetic resonance imaging (or computed tomography scan) as a hypervascular solid tumor with fatty areas and with washout, and can easily be misdiagnosed as other liver tumors, particularly hepatocellular carcinoma. The therapeutic strategy is not clearly defined, but surgical resection is indicated for symptomatic patients, for tumors showing an aggressive pattern (i.e., changes in size on imaging or high proliferation activity and atypical epithelioid pattern on liver biopsy), for large (> 5 cm) biopsy-proven HAML, and if doubts remain on imaging or histology. Conservative management may be justified in other conditions, since most cases follow a benign clinical course. In summary, the correct diagnosis of HAML is challenging on imaging and relies mainly on pathological findings.
Collapse
Affiliation(s)
- Paul Calame
- Department of Radiology, Jean Minjoz University Hospital, Besançon 25030, France
| | - Gaëlle Tyrode
- Department of Hepatology, Jean Minjoz University Hospital, Besançon 25030, France
| | | | - Sophie Félix
- Department of Pathology, Jean Minjoz University Hospital, Besançon 25000, France
| | - Anne Julia Klompenhouwer
- Department of Surgery, Erasmus University Medical Center, Rotterdam PO Box 2040, The Netherlands
| | - Vincent Di Martino
- Department of Hepatology, Jean Minjoz University Hospital, Besançon 25030, France
| | - Eric Delabrousse
- Department of Radiology, Jean Minjoz University Hospital, Besançon 25030, France
| | - Thierry Thévenot
- Department of Hepatology, Jean Minjoz University Hospital, Besançon 25030, France
| |
Collapse
|
|
24
|
Yang Y, Yu X, Lu B, Shao Z. Perivascular epithelioid cell tumor (PEComa) of the kidney: an overview of its management and outcomes. J Int Med Res 2021; 48:300060520961223. [PMID: 33070694 PMCID: PMC7592318 DOI: 10.1177/0300060520961223] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/17/2022] Open
Abstract
Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal tumor with unique histological and immunohistochemical characteristics. Malignant renal cell carcinoma is even rarer and its biological behavior is still not clear. We report here a case of malignant PEComa in a male patient. The first symptom of the patient was intermittent hematuria. Ultrasound and computed tomography scan showed a solid mass in the left kidney. Fibrosarcoma was initially diagnosed after radical resection of the tumor. Six years later, the patient had a tumor recurrence and underwent a second operation, through which the diagnosis of renal malignant PEComa was made. Since then, the patient received chemotherapy, a third operation, and interventional treatment because of recurrence and metastasis of the tumor, which prolonged the life of the patient for another 6 years. Malignant PEComa involving the kidney is very rare; it seems to develop slowly but will recur and metastasize. At present, surgical resection remains the best treatment.
Collapse
Affiliation(s)
- Yu Yang
- Department of Urology, the Fourth Medical Center of PLA General Hospital, Beijing, China
| | - Xiaohong Yu
- Department of Urology, the Linyi People's Hospital, Linyi, Shandong Province, China
| | - Bo Lu
- Department of Surgery, the Maternal and Child Health Hospital of Pingyi County, Linyi, Shandong Province, China
| | - Zhiqiang Shao
- Department of Urology, the Linyi People's Hospital, Linyi, Shandong Province, China
| |
Collapse
|
|
25
|
Ramezanpour S, Horvai AE, Zimel M, Bucknor M, Link TM. Fibroma-like perivascular epithelioid cell tumor: a rare case in a long bone. Skeletal Radiol 2021; 50:821-825. [PMID: 32944815 DOI: 10.1007/s00256-020-03610-w] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/21/2020] [Revised: 09/02/2020] [Accepted: 09/10/2020] [Indexed: 02/02/2023]
Abstract
Fibroma-like perivascular epithelioid cell (PEComa) tumor is an extremely rare family of mesenchymal tumors composed of cells co-expressing melanocytic and myogenic markers. To date, 13 cases of primary bone PEComa have been reported in the literature and five reported fibroma-like PEComas were found in the soft tissues of patients with tuberous sclerosis (TSC). However, no fibroma-like PEComa has been reported in bone, either sporadic or TSC-associated. Here we report the case of a 22-year-old man with known TSC, who presented for evaluation of an asymptomatic mass in his left fibula diaphysis that had been present for 5 years. He had no activity-related pain, numbness, weakness, or limitations in range of motion. Both 3-T MRI and CT demonstrated a tumor originating from the midshaft middiaphyseal fibula. Axial T1-weighted and fat-saturated T2-weighted fast spin echo images showed a well-defined lesion in the fibula with extension into the surrounding soft tissues. Whole body bone scan was negative for metastasis using technetium-99m. Renal ultrasound was unremarkable with no evidence of angiomyolipoma. Histopathology demonstrated isolated spindle cells in a dense collagenous matrix. By immunohistochemical staining, tumor cells were positive for HMB-45 and MiTF and partially positive for alpha-smooth muscle actin supporting a diagnosis of fibroma-like PEComa of the midshaft fibula. Although fibroma-like PEComa of bone is very rare, a bone tumor in the setting of TSC should raise suspicion for the diagnosis, in particular if histology demonstrates rare epithelioid cells in a densely fibrotic stroma.
Collapse
Affiliation(s)
- Sara Ramezanpour
- Department of Radiology and Biomedical Imaging, University of California, San Francisco, 400 Parnassus Ave, A-367, San Francisco, CA, 94143, USA.
| | - Andrew E Horvai
- Department of Pathology, University of California, San Francisco, San Francisco, CA, USA
| | - Melissa Zimel
- Department of Orthopaedic Surgery, University of California, San Francisco, San Francisco, CA, USA
| | - Matthew Bucknor
- Department of Radiology and Biomedical Imaging, University of California, San Francisco, 400 Parnassus Ave, A-367, San Francisco, CA, 94143, USA
| | - Thomas M Link
- Department of Radiology and Biomedical Imaging, University of California, San Francisco, 400 Parnassus Ave, A-367, San Francisco, CA, 94143, USA.
| |
Collapse
|
|
26
|
Mimickers of Urothelial Carcinoma and the Approach to Differential Diagnosis. Clin Pract 2021; 11:110-123. [PMID: 33668963 PMCID: PMC7931042 DOI: 10.3390/clinpract11010017] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/17/2020] [Revised: 02/09/2021] [Accepted: 02/18/2021] [Indexed: 01/03/2023] Open
Abstract
A broad spectrum of lesions, including hyperplastic, metaplastic, inflammatory, infectious, and reactive, may mimic cancer all along the urinary tract. This narrative collects most of them from a clinical and pathologic perspective, offering urologists and general pathologists their most salient definitory features. Together with classical, well-known, entities such as urothelial papillomas (conventional (UP) and inverted (IUP)), nephrogenic adenoma (NA), polypoid cystitis (PC), fibroepithelial polyp (FP), prostatic-type polyp (PP), verumontanum cyst (VC), xanthogranulomatous inflammation (XI), reactive changes secondary to BCG instillations (BCGitis), schistosomiasis (SC), keratinizing desquamative squamous metaplasia (KSM), post-radiation changes (PRC), vaginal-type metaplasia (VM), endocervicosis (EC)/endometriosis (EM) (müllerianosis), malakoplakia (MK), florid von Brunn nest proliferation (VB), cystitis/ureteritis cystica (CC), and glandularis (CG), among others, still other cellular proliferations with concerning histological features and poorly understood etiopathogenesis like IgG4-related disease (IGG4), PEComa (PEC), and pseudosarcomatous myofibroblastic proliferations (post-operative spindle cell nodule (POS), inflammatory myofibroblastic tumor (IMT)), are reviewed. Some of these diagnoses are problematic for urologists, other for pathologists, and still others for both. Interestingly, the right identification of their definitory features will allow their correct diagnoses, thus, avoiding overtreatment. The literature selected for this review also focuses on the immunohistochemical and/or molecular data useful to delineate prognosis.
Collapse
|
|
27
|
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.
Collapse
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
| |
Collapse
|
|
28
|
Angiomyolipoma of the kidney: from simple hamartoma to complex tumour. Pathology 2020; 53:129-140. [PMID: 33131798 DOI: 10.1016/j.pathol.2020.08.008] [Citation(s) in RCA: 26] [Impact Index Per Article: 5.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/26/2020] [Accepted: 08/30/2020] [Indexed: 12/16/2022]
Abstract
Angiomyolipoma is the most common mesenchymal tumour of the kidney, even if for a long time it has been viewed as a hamartoma rather than a neoplasm. It belongs to a family of neoplasms, named PEComa, characterised by the constant presence of perivascular epithelioid cells that co-express smooth muscle and melanogenesis markers. Angiomyolipoma can occur in patients with tuberous sclerosis, a hereditary syndrome due to the alteration of TSC1 or TSC2 genes, or sporadically. Angiomyolipoma and its variants are indolent tumours; however, some epithelioid angiomyolipomas/pure epithelioid PEComas are aggressive, and criteria for malignancy have been proposed to identify those cases. Although typical angiomyolipoma is a straightforward diagnosis, pathologists should be aware of the wide morphological spectrum of its variants which could be tricky in routine clinical practice and could require immunohistochemical analysis for resolution. The differential diagnosis may range from an inflammatory process (for instance xanthogranulomatous pyelonephritis) to the most common renal cancers and sarcomas. The immunoexpression of melanogenesis markers (HMB45 and Melan-A) and cathepsin K is extremely helpful in the majority of cases. Recently, a subset of epithelioid angiomyolipoma/pure epithelioid PEComa harbouring TFE3 gene fusions has been described, raising questions about its relationship with the family of perivascular epithelioid cell tumour. The activation of the mTOR pathway due to genetic alterations of tuberous sclerosis complex in TSC1 or TSC2 genes in angiomyolipoma has also been reported as well as the subsequent therapeutic implications.
Collapse
|
|
29
|
Retroperitoneal Sarcomas: An Update on the Diagnostic Pathology Approach. Diagnostics (Basel) 2020; 10:diagnostics10090642. [PMID: 32867125 PMCID: PMC7555595 DOI: 10.3390/diagnostics10090642] [Citation(s) in RCA: 25] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/20/2020] [Revised: 08/24/2020] [Accepted: 08/26/2020] [Indexed: 02/07/2023] Open
Abstract
Retroperitoneal sarcomas are a heterogenous group of rare tumors arising in the retroperitoneum. Retroperitoneal sarcomas comprise approximately 10% of all soft tissue sarcomas. Though any soft tissue sarcoma histologic types may arise in the retroperitoneal space, liposarcoma (especially well-differentiated and dedifferentiated types) and leiomyosarcoma do so most commonly. Retroperitoneal sarcomas are diagnostically challenging, owing to their diversity and morphological overlap with other tumors arising in the retroperitoneum. An accurate diagnosis is necessary for correct management and prognostication. Herein, we provide an update on the diagnostic approach to retroperitoneal sarcomas and review their key histologic findings and differential diagnoses.
Collapse
|
|
30
|
Epithelioid Cutaneous Mesenchymal Neoplasms: A Practical Diagnostic Approach. Diagnostics (Basel) 2020; 10:diagnostics10040233. [PMID: 32316685 PMCID: PMC7236000 DOI: 10.3390/diagnostics10040233] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/27/2020] [Revised: 04/15/2020] [Accepted: 04/16/2020] [Indexed: 12/16/2022] Open
Abstract
Epithelioid cells are rounded or polygonal cells with abundant eosinophilic or clear cytoplasm and ovoid to round nuclei, superficially resembling epithelial cells. Cutaneous mesenchymal neoplasms composed predominantly or exclusively of epithelioid cells are relatively uncommon and can cause considerable diagnostic difficulties due to overlapping histologic features among heterogeneous groups of tumors. Familiarity with practical diagnostic approaches and recognition of key histopathologic features are important for correct diagnosis and management. This review summarizes the histologic features of epithelioid cutaneous mesenchymal neoplasms and discusses their differential diagnoses from malignant melanomas and carcinomas.
Collapse
|
|
31
|
Odoño EIG, Tan KB, Tay SY, Lee VKM. Cutaneous "fibroma-like" perivascular epithelioid cell tumor: A case report and review of literature. J Cutan Pathol 2020; 47:548-553. [PMID: 31943330 DOI: 10.1111/cup.13647] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/07/2019] [Revised: 12/24/2019] [Accepted: 01/06/2020] [Indexed: 12/27/2022]
Abstract
Perivascular epithelioid cell tumors (PEComas) are a group of lesions sharing the common features of co-expression of melanocytic and myogenic markers, with focal association of the cells with vascular walls. The PEComa group exhibits a wide range of morphologies. A "fibroma-like" variant of PEComa has been recently described. The case reported herein is that of an infant with tuberous sclerosis complex (TSC) presenting with a lip mass. Excisional biopsy showed a moderately cellular tumor composed of spindled to stellate cells embedded within a collagenized stroma. The cells showed focal perivascular accumulation and positivity for both melanocytic (HMB-45) and myogenic (desmin) markers. This is the fifth reported case of "fibroma-like" PEComa in literature and the youngest patient to date. All of the "fibroma-like" PEComas were found in patients with tuberous sclerosis-hence, the diagnosis of this entity should prompt a workup for TSC; conversely, a fibroma-like lesion in a patient with TSC or with TSC-related conditions should be evaluated using melanocytic and myogenic markers. Melanocytic and myogenic markers are also useful in differentiating "fibroma-like" PEComa from other differential diagnoses such as fibroma and benign fibrous histiocytoma.
Collapse
Affiliation(s)
- Eugene I G Odoño
- Department of Pathology, College of Medicine, University of the Philippines, Manila, Philippines
| | - Kong-Bing Tan
- Department of Pathology, Yong Loo Lin School of Medicine, National University Health System and National University of Singapore, Singapore, Singapore
| | - Sok Yan Tay
- Department of Otorhinolaryngology, National University Health System, Singapore, Singapore
| | - Victor Kwan Min Lee
- Department of Pathology, Yong Loo Lin School of Medicine, National University Health System and National University of Singapore, Singapore, Singapore
| |
Collapse
|
|
32
|
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.
Collapse
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
| |
Collapse
|
|
33
|
Pelosi G, Sabella G, Cannone M, Balladore E, Papanikolaou N, Incarbone M, Zompatori M, Harari S, Bedini AV. Parietal Pleura-Based Malignant Perivascular Epithelioid Cell Neoplasm Protruding Into Serous Cavity: A Hitherto Unrecognized Occurrence. J Thorac Oncol 2019; 15:462-466. [PMID: 31812753 DOI: 10.1016/j.jtho.2019.11.021] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/07/2019] [Revised: 09/20/2019] [Accepted: 11/22/2019] [Indexed: 11/25/2022]
Affiliation(s)
- Giuseppe Pelosi
- Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy; Interhospital Pathology Division, IRCCS MultiMedica, Milan, Italy.
| | - Giovanna Sabella
- Interhospital Pathology Division, IRCCS MultiMedica, Milan, Italy
| | - Maria Cannone
- Interhospital Pathology Division, IRCCS MultiMedica, Milan, Italy
| | | | | | | | - Maurizio Zompatori
- Department of Radiology, San Giuseppe Hospital, IRCCS MultiMedica, Milan, Italy
| | - Sergio Harari
- Department of Medical Sciences and Division of Pneumology, San Giuseppe Hospital, IRCCS MultiMedica, Milan, Italy
| | | |
Collapse
|
|
34
|
Touloumis Z, Giannakou N, Sioros C, Trigka A, Cheilakea M, Dimitriou N, Griniatsos J. Retroperitoneal perivascular epithelioid cell tumours: A case report and review of literature. World J Clin Cases 2019; 7:3524-3534. [PMID: 31750334 PMCID: PMC6854398 DOI: 10.12998/wjcc.v7.i21.3524] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/05/2019] [Revised: 08/26/2019] [Accepted: 09/09/2019] [Indexed: 02/05/2023] Open
Abstract
BACKGROUND The perivascular epithelioid cell tumour (PEComa) family of tumours mainly includes renal and hepatic angiomyolipomas, pulmonary lymphangioleiomyomatosis and clear cell “sugar” tumour of the lung. Several uncommon tumours with similar morphological and immunophenotypical characteristics arising at a variety of sites (abdominal cavity, digestive tract, retroperitoneum, skin, soft tissue and bones) are also included in the PEComa family and are referred to as PEComas not otherwise specified.
CASE SUMMARY We present a 37-year-old female patient who underwent resection of an 8.5 cm × 8 cm × 4 cm retroperitoneal tumour, which eventually was diagnosed as PEComa of uncertain biological behaviour. Three years after the operation, the patient remains without any evidence of recurrence. A search was performed in the Medline and EMBASE databases for articles published between 1996 and 2018, and we identified 31 articles related to retroperitoneal and perinephric PEComas. We focused on sex, age, maximum dimension, histological and immunohistochemical characteristics of the tumour, follow-up and long-term outcome. Thirty-four retroperitoneal (including the present one) and ten perinephric PEComas were identified, carrying a malignant potential rate of 44% and 60%, respectively. Nearly half of the potentially malignant PEComas presented with or developed metastases during the course of the disease.
CONCLUSION Retroperitoneal PEComas are not as indolent as they are supposed to be. Radical surgical resection constitutes the treatment of choice for localized disease, while mammalian target of the rapamycin (mTOR) inhibitors constitute the most promising therapy for disseminated disease. The role of mTOR inhibitors as adjuvant or neoadjuvant therapies needs to be evaluated in the future.
Collapse
Affiliation(s)
- Zisis Touloumis
- Department of Surgery, Athens Medical Group, Athens 11525, Greece
| | - Niki Giannakou
- Department of Pathology, Athens Medical Group, Athens 11525, Greece
| | - Christos Sioros
- Department of Surgery, Athens Medical Group, Athens 11525, Greece
| | - Argiro Trigka
- Department of Surgery, Athens Medical Group, Athens 11525, Greece
| | - Maria Cheilakea
- Emergency Department, Konstantopouleio General Hospital, N. Ionia 14233, Greece
| | - Nikoletta Dimitriou
- 1st Department of Surgery, National and Kapodistrian University of Athens, Athens 11527, Greece
| | - John Griniatsos
- 1st Department of Surgery, National and Kapodistrian University of Athens, Athens 11527, Greece
| |
Collapse
|
|
35
|
Touloumis Z, Giannakou N, Sioros C, Trigka A, Cheilakea M, Dimitriou N, Griniatsos J. Retroperitoneal perivascular epithelioid cell tumours: A case report and review of literature. World J Clin Cases 2019. [DOI: 10.12998/wjcc.v7.i21.3507] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/04/2023] Open
|
|
36
|
Intra-articular fibroma-like perivascular epithelioid tumor (PEComa) mimicking tenosynovial giant cell tumor, diffuse type. Skeletal Radiol 2019; 48:965-969. [PMID: 30206676 DOI: 10.1007/s00256-018-3065-7] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/10/2018] [Revised: 08/29/2018] [Accepted: 08/30/2018] [Indexed: 02/02/2023]
Abstract
Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal neoplasms composed of perivascular epithelioid cells that are immunoreactive for both melanocytic and myogenic markers. Recently, a fibroma-like PEComa associated with tuberous sclerosis complex (TSC) has been identified. We describe the first intra-articular case of a fibroma-like PEComa in a 44-year-old man who presented with a hypointense intra-articular knee mass, which was mistaken for tenosynovial giant cell tumor, diffuse type. This case report demonstrates that fibroma-like PEComa should be included in the extended differential diagnosis of intra-articular soft tissue masses. In addition, given their strong association with TSC mutations, a diagnosis of fibroma-like PEComa should trigger an evaluation for TSC.
Collapse
|
|
37
|
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.
Collapse
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
| | | |
Collapse
|
|
38
|
Hung YP, Hornick JL. Immunohistochemical Biomarkers of Mesenchymal Neoplasms in Endocrine Organs: Diagnostic Pitfalls and Recent Discoveries. Endocr Pathol 2018; 29:189-198. [PMID: 29340997 DOI: 10.1007/s12022-018-9513-z] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
Abstract
Mesenchymal neoplasms rarely present in or adjacent to endocrine organs. In this context, the recognition of these rare tumor types can be challenging, with significant potential for misdiagnosis as sarcomatoid carcinomas (i.e., anaplastic thyroid carcinoma and sarcomatoid adrenal cortical carcinoma) or neuroendocrine carcinomas, depending upon the dominant histologic patterns. In this review, we address potential pitfalls in diagnosing selected mesenchymal neoplasms arising within or near endocrine organs, including dedifferentiated liposarcoma, synovial sarcoma, angiosarcoma, PEComa, proximal-type epithelioid sarcoma, Ewing sarcoma, and neuroblastoma. For each of these tumor types, we review clinical and pathologic features, histologic clues to distinguish them from endocrine neoplasms, and recently developed immunohistochemical markers that can be particularly useful for establishing the correct diagnosis.
Collapse
Affiliation(s)
- Yin P Hung
- Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, 75 Francis Street, Boston, MA, 02115, USA
| | - Jason L Hornick
- Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, 75 Francis Street, Boston, MA, 02115, USA.
| |
Collapse
|
|
39
|
|
|
40
|
Nair AG, Gore SS, Ganvir AY, Adulkar NG, Gopinathan I, Murthy AK, Potdar NA, Shinde CA. Giant Perivascular Epithelioid Cell Tumor of the Orbit: A Clinicopathological Analysis and Review of the Literature. Ocul Oncol Pathol 2018; 4:272-279. [PMID: 30320097 DOI: 10.1159/000484425] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/21/2017] [Accepted: 10/11/2017] [Indexed: 12/13/2022] Open
Abstract
Aim To describe and review the clinical, radiological, and histopathological characteristics of an orbital perivascular epithelioid cell tumor (PEComa). Methods A systematic review of clinical records, radiological investigations, microscopic features, and immunohistochemical characteristics was done. Results A 9-year-old female child presented with a year-long history of a large orbital mass associated with painless, progressive proptosis of the right eye. Radiologically, a well-defined orbital mass was seen with no intracranial extension. Excision was performed and histopathological examination showed uniform epithelioid cells in nests separated by thin fibrovascular septae. The tumor cells stained positively for Human Melanoma Black-45, but neg-atively for desmin, S-100, smooth muscle actin, MyoD1, microphthalmia-associated transcription factor, vimentin, CD10, CD31, and CD34 with a low proliferation index of 5-7%. Based on the tumor's morphological and immuno-histochemical characteristics, a diagnosis of giant orbital PEComa was made. No recurrence was seen at the last follow-up. Conclusions PEComas are uncommon mesenchymal neoplasms that have typical histological features, with an immunohistochemical profile of negativity for epithelial markers and positivity for melanocytic markers. For benign PEComas, complete excision is advised. However, since PEComas elsewhere in the body have been known to be malignant, a close follow-up of such cases is recommended.
Collapse
Affiliation(s)
- Akshay G Nair
- Department of Ophthalmology, Lokmanya Tilak Municipal Medical College and General Hospital, Mumbai, India.,Ophthalmic Plastic Surgery and Ocular Oncology Services, Advanced Eye Hospital and Institute, Navi Mumbai, India.,Aditya Jyot Eye Hospital, Mumbai, India
| | - Swaranjali S Gore
- Department of Ophthalmology, Lokmanya Tilak Municipal Medical College and General Hospital, Mumbai, India
| | - Amol Y Ganvir
- Department of Ophthalmology, Lokmanya Tilak Municipal Medical College and General Hospital, Mumbai, India
| | | | | | | | - Nayana A Potdar
- Department of Ophthalmology, Lokmanya Tilak Municipal Medical College and General Hospital, Mumbai, India
| | - Chhaya A Shinde
- Department of Ophthalmology, Lokmanya Tilak Municipal Medical College and General Hospital, Mumbai, India
| |
Collapse
|
|
41
|
Garg K, Karnezis AN, Rabban JT. Uncommon hereditary gynaecological tumour syndromes: pathological features in tumours that may predict risk for a germline mutation. Pathology 2018; 50:238-256. [PMID: 29373116 DOI: 10.1016/j.pathol.2017.10.009] [Citation(s) in RCA: 21] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/03/2017] [Revised: 10/24/2017] [Accepted: 10/25/2017] [Indexed: 12/31/2022]
Abstract
The most common hereditary gynaecological tumour syndromes are hereditary breast and ovarian cancer syndrome and Lynch syndrome. However, pathologists also may encounter gynaecological tumours in women with rare hereditary syndromes. Many of these tumours exhibit distinctive gross and microscopic features that are associated with a risk for an inherited gene mutation. The sensitivity and specificity of these tumour pathology features for predicting an inherited mutation vary depending on the syndrome. By recognising these tumour features, pathologists may potentially contribute to the diagnosis of an unsuspected syndrome by recommending referral of the patient for formal risk assessment by genetic counselling. Patients additionally benefit from diagnosis of an inherited syndrome because many also carry a lifetime risk for developing primary malignancies outside of the gynaecological tract. Early diagnosis of an inherited syndrome permits early screening, detection, and management of additional malignancies associated with the syndrome. This review highlights these rare syndromes and their tumour pathology, including Peutz-Jeghers syndrome (gastric type mucinous carcinoma of the cervix; ovarian sex cord tumour with annular tubules); hereditary leiomyoma renal cell carcinoma syndrome (uterine leiomyoma); tuberous sclerosis complex (uterine PEComa; uterine lymphangioleiomyomatosis); DICER1 syndrome (ovarian Sertoli-Leydig cell tumour; cervical embryonal rhabdomyosarcoma); rhabdoid tumour predisposition syndrome 2 (small cell carcinoma of the ovary, hypercalcaemic type); Cowden syndrome (endometrial endometrioid adenocarcinoma); naevoid basal cell carcinoma syndrome (ovarian fibroma); and Von Hippel-Lindau syndrome (clear cell papillary cystadenoma of the broad ligament).
Collapse
Affiliation(s)
- Karuna Garg
- University of California San Francisco, Pathology Department, San Francisco, CA, United States
| | - Anthony N Karnezis
- University of British Columbia, Department of Pathology and Laboratory Medicine, Vancouver, Canada
| | - Joseph T Rabban
- University of California San Francisco, Pathology Department, San Francisco, CA, United States.
| |
Collapse
|
|
42
|
Gulavita P, Fletcher CDM, Hirsch MS. PNL2: an adjunctive biomarker for renal angiomyolipomas and perivascular epithelioid cell tumours. Histopathology 2017; 72:441-448. [DOI: 10.1111/his.13369] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/30/2017] [Accepted: 08/21/2017] [Indexed: 11/29/2022]
Affiliation(s)
- Previn Gulavita
- Department of Pathology; Brigham and Women's Hospital; Harvard Medical School; Boston MA USA
| | | | - Michelle S Hirsch
- Department of Pathology; Brigham and Women's Hospital; Harvard Medical School; Boston MA USA
| |
Collapse
|
|
43
|
Rheb/mTOR/p70s6k Cascade and TFE3 Expression in Conventional and Sclerosing PEComas of the Urinary Tract. Appl Immunohistochem Mol Morphol 2017; 24:514-20. [PMID: 26258755 DOI: 10.1097/pai.0000000000000209] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/26/2022]
Abstract
Perivascular epithelioid cell tumors (PEComas) are rarely found in the urinary tract. The clinicopathologic characteristics of 10 cases, retrospectively collected from 5 medical institutions in 3 different European countries, are presented in this study. Male/female ratio was 3:7 and the average age at diagnosis was 62.7 years. Nine cases were sporadic and 1 showed germline mutation of the TSC2 gene. Eight cases were located in the kidney, 1 in the left adrenal and 1 in the right ureter. All of the patients were alive and free of disease at the time of last contact (mean follow-up, 14.1 mo). Four cases displayed a conventional morphology and 6 showed a prominent sclerotic stroma. By immunohistochemistry, melanocytic markers were consistently expressed, especially HMB-45 (10 cases), MiTF (9 cases), and Melan-A (6 cases). Desmin was expressed in 6 cases; 2 cases were positive for CD117; a single case showed TFE3 expression. pMAPK, mTOR, and pAKT demonstrated variable immunostaining with focal positivity in 7, 4, and 2 cases, respectively. Cytokeratins were repeatedly negative in all cases. PEComas in the urinary tract, especially in the renal region, may show a relatively high frequency of the sclerosing histologic subtype. Knowledge of the distinct histology and immunohistochemical profile is vital to correctly diagnose this rare entity.
Collapse
|
|
44
|
Refinements in Sarcoma Classification in the Current 2013 World Health Organization Classification of Tumours of Soft Tissue and Bone. Surg Oncol Clin N Am 2016; 25:621-43. [PMID: 27591490 DOI: 10.1016/j.soc.2016.05.001] [Citation(s) in RCA: 109] [Impact Index Per Article: 12.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/19/2022]
Abstract
The fourth edition of the World Health Organization (WHO) Classification of Tumours of Soft Tissue and Bone was published in February 2013. The 2013 WHO volume provides an updated classification scheme and reproducible diagnostic criteria, which are based on recent clinicopathologic studies and genetic and molecular data that facilitated refined definition of established tumor types, recognition of novel entities, and the development of novel diagnostic markers. This article reviews updates and changes in the classification of bone and soft tissue tumors from the 2002 volume.
Collapse
|
|
45
|
Kim HY, Choi JH, Lee HS, Choi YJ, Kim A, Kim HK. Sclerosing Perivascular Epithelioid Cell Tumor of the Lung: A Case Report with Cytologic Findings. J Pathol Transl Med 2016; 50:238-42. [PMID: 27068025 PMCID: PMC4876082 DOI: 10.4132/jptm.2016.02.19] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/21/2016] [Revised: 02/11/2016] [Accepted: 02/19/2016] [Indexed: 11/17/2022] Open
Abstract
Benign perivascular epithelioid cell tumor (PEComa) of the lung is a rare benign neoplasm, a sclerosing variant of which is even rarer. We present a case of 51-year-old man who was diagnosed with benign sclerosing PEComa by percutaneous fine needle aspiration cytology and biopsy. The aspirate revealed a few cell clusters composed of bland-looking polygonal or spindle cells with fine granular or clear cytoplasm. Occasional fine vessel-like structures with surrounding hyalinized materials were seen. The patient later underwent wedge resection of the lung. The histopathological study of the resected specimen revealed sheets of polygonal cells with clear vacuolated cytoplasm, variably sized thin blood vessels, and densely hyalinized stroma. In immunohistochemical studies, reactivity of tumor cells for human melanoma black 45 and Melan-A further supported the diagnosis of benign sclerosing PEComa. To the best of our knowledge, this is the first case of benign sclerosing PEComa described in lung.
Collapse
Affiliation(s)
- Ha Yeon Kim
- Department of Pathology, Korea University Guro Hospital, Seoul, Korea
| | - Jin Hyuk Choi
- Department of Pathology, Korea University Guro Hospital, Seoul, Korea
| | - Hye Seung Lee
- Department of Pathology, Korea University Guro Hospital, Seoul, Korea
| | - Yoo Jin Choi
- Department of Pathology, Korea University Guro Hospital, Seoul, Korea
| | - Aeree Kim
- Department of Pathology, Korea University Guro Hospital, Seoul, Korea
| | - Han Kyeom Kim
- Department of Pathology, Korea University Guro Hospital, Seoul, Korea
| |
Collapse
|
|
46
|
Oh HW, Kim TH, Cha RR, Kim NY, Kim HJ, Jung WT, Lee OJ, Lee JH. [A case of malignant perivascular epithelioid cell tumor of the retroperitoneum with multiple metastases]. THE KOREAN JOURNAL OF GASTROENTEROLOGY 2016; 64:302-6. [PMID: 25420742 DOI: 10.4166/kjg.2014.64.5.302] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/17/2023]
Abstract
Perivascular epithelioid cell tumors (PEComas) are unusual mesenchymal neoplasms composed of histologically and immunohistochemically distinct perivascular epithelioid cells (PECs). Although PEComas have the potential to behave in a malignant fashion, malignant PEComas arising from the retroperitoneum are extremely rare. A 68-year-old woman presented with a painful palpable mass in her left upper abdomen. Computed tomography of the abdomen showed a 9 cm sized heterogeneous mass in left para-aortic space and multiple hypervascular nodules in the liver. (18)F-fludeoxyglucose-PET/CT showed multifocal hyper-metabolic lesions in retroperitoneum, liver, and skeletal bones. Percutaneous needle biopsies were done on the retroperitoneal and hepatic mass. Both specimens were positive for human melanoma black-45 (HMB-45) on histological and immunohistochemical staining which was compatible with PEComas. Herein, we report a rare case of retroperitoneal PEComa with multiple metastases involving liver and bone at initial diagnosis that exhibited aggressive behavior and resulted in a devastating prognosis.
Collapse
|
|
47
|
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.
Collapse
|
|
48
|
Rampisela D, Grossmann P, Donner LR. Rhabdoid Myomelanocytic Tumor (PEComa) of the Ovary. Int J Surg Pathol 2016; 24:431-5. [DOI: 10.1177/1066896916635815] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/04/2023]
Abstract
A 3.0 × 2.5 cm rhabdoid myomelanocytic tumor was incidentally found in the left ovary of a 43-year-old black woman. The tumor cells were cytologically bland with minimal proliferation rate, multifocally weakly or moderately expressed TFE3, strongly expressed smooth muscle markers and SMARCB1/INI1, and focally expressed HMB45. They contained numerous paranuclear whorls of intermediate filaments that were verified by ultrastructure. No other lines of differentiation were detected within the tumor. Neither translocation nor increased number of copies of the TFE3 gene at Xp11.22 was detected by fluorescence in situ hybridization. The patient remains well, free of tumor, 7 years after surgery. A rhabdoid variant of myomelanocytic tumor is a rarity, with only a single case described previously.
Collapse
Affiliation(s)
- Debby Rampisela
- Baylor Scott & White Health/Texas A&M Health Science Center College of Medicine, Temple, TX, USA
| | | | - Ludvik R. Donner
- Baylor Scott & White Health/Texas A&M Health Science Center College of Medicine, Temple, TX, USA
| |
Collapse
|
|
49
|
Abstract
Renal cell carcinomas associated with syndromes of a heritable nature account for about 4% of all renal cell carcinomas. They are characterized by an earlier age of onset, and are often multicentric and bilateral. Some of these patients may fit into well-characterized kidney cancer syndromes, while many more may have a genetic component that is not fully recognized or understood. The presence of extrarenal clinical features may suggest a specific renal tumor susceptibility syndrome. Moreover, each syndrome is associated with specific renal pathology findings. Recognition of individuals and families with a high risk of renal neoplasia is important so that surveillance for renal tumors may be initiated. This manuscript reviews the clinical, pathological, and molecular features of hereditary renal cell carcinoma syndromes with emphasis on the morphologic features of these tumors and the molecular mechanisms of hereditary renal tumorigenesis.
Collapse
|
|
50
|
Lan YZ, Hua XE. Hepatic multiple perivascular epithelioid cell neoplasm: A case report and literature review. Mol Clin Oncol 2016; 4:619-621. [PMID: 27073677 DOI: 10.3892/mco.2016.735] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/05/2015] [Accepted: 01/05/2016] [Indexed: 02/06/2023] Open
Abstract
Perivascular epithelioid cell neoplasm (PEComa) is a rare tumor type and primary hepatic multiple perivascular is rarer still. The present case report investigated the case of a 40-year-old woman who was admitted to The Second Xiangya Hospital for hepatic multiple tumor by physical examination without any history of abdominal pain or body weight loss. Abdominal plain computed tomography revealed three lesions in the liver. All lesions exhibited a well-defined boarder and only one mass contained fatty tissue in S6 of the liver. An enhanced scan revealed that all lesions were heterogeneous, and were enhanced on the artery phase and on portal vein phase. On delay phase, the lesions revealed continued enhancement, which is isoattenuating to the normal hepatic parenchyma. Following excision of the three masses, the patient was pathologically diagnosed with hepatic multiple PEComa. Short-term re-examination revealed no recurrence.
Collapse
Affiliation(s)
- Yin Zhi Lan
- The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China
| | - Xiao En Hua
- The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China
| |
Collapse
|