ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2022
Uterine PEComas: correlation between melanocytic marker expression and TSC alterations/TFE3 fusions.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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25 citing papers in PubMed, 51 citations in OpenAlex.
- MiT fusions, TSC1-TSC2 divergence, and stem-like programs reveal distinct origins and vulnerabilities in PEComa.Nature communications · 2026Article
- Diagnostic utility of novel marker TRIM63 ISH in the workup of uterine perivascular epithelioid cell tumors.Virchows Archiv : an international journal of pathology · 2026Article
- Malignant uterine PEComa: a narrative literature review and challenging case report.Journal of cancer research and clinical oncology · 2026Review
- Malignant hepatic perivascular epithelioid cell tumor: A case report and literature review.Radiology case reports · 2026Article
- GPNMB immunohistochemistry is a useful ancillary tool for the diagnosis of pulmonary lymphangioleiomyomatosis.Histopathology · 2026Article
- Imaging of synchronous multifocal renal masses: a case report.Frontiers in medicine · 2026Article
- ALK-positive inflammatory myofibroblastic tumor in the pelvis of a child: a case report and literature review.Frontiers in oncology · 2026Article
- Stimulator of interferon genes immunohistochemical expression in the spectrum of extrarenal perivascular epithelioid cell lesions.Scientific reports · 2025Article
- Perivascular epithelioid cell tumors of the urinary bladder: a multi-institutional clinicopathologic and molecular analysis of 21 cases.Virchows Archiv : an international journal of pathology · 2025Article
- Genetic correlates of malignancy in TFE3-rearranged PEComa: a series of 14 cases.Histopathology · 2025Article
- Pigmented perivascular epithelioid cell tumors of the orbit withAmerican journal of ophthalmology case reports · 2025Article
- Computed tomography and magnetic resonance imaging features of primary liver perivascular epithelioid cell tumor with renal angiomyolipoma: a case report and literature review.Frontiers in oncology · 2025Article
- Conservative treatment in uterine perivascular epithelioid cell tumor of uncertain malignant potential: a case report.Journal of medical case reports · 2024Article
- Malignant Perivascular epithelioid cell tumour of the uterus without TFE3 gene rearrangement: a case report.BMC women's health · 2024Article
- Challenges in Diagnosing Metastatic Uterine PEComa: Insights from Two Case Studies.The American journal of case reports · 2024Article
- Sarcomas With RAD51B Fusions Are Associated With a Heterogeneous Phenotype.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2024Article
- Perivascular epithelioid cell tumor of the uterus and pelvic cavity.Frontiers in oncology · 2024Article
- A case report and literature review: leiomyosarcoma or perivascular epithelioid cell neoplasm?Frontiers in oncology · 2024Article
- Molecular-Based Immunohistochemical Algorithm for Uterine Leiomyosarcoma Diagnosis.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2023Article
- Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus as Part of the Hereditary Cancer Syndrome: A Case Diagnosed with Multiple Malignancies.Turk patoloji dergisi · 2023Article
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7 authors at 4 institutions in 1 country.
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Abstract
Uterine PEComas often present a diagnostic challenge as they share morphological and immunohistochemical features with smooth muscle tumors. Herein we evaluated a series of 19 uterine PEComas to compare the degree of melanocytic marker expression with their molecular profile. Patients ranged from 32-77 (median 48) years, with six tumors classified as malignant based on the modified gynecologic-specific prognostic algorithm. All patients with malignant PEComas were alive with disease or dead of disease at last follow-up, while all those of uncertain malignant potential were alive and well (median follow-up, 47 months).Seventeen of 19 (89%) PEComas harbored either a TSC1 or TSC2 alteration. One of the two remaining tumors showed a TFE3 rearrangement, but the other lacked alterations in all genes evaluated. All showed at least focal (usually strong) positivity for HMB-45, with 15/19 (79%) having >50% expression, while the tumor lacking TSC or TFE3 alterations was strongly positive in 10% of cells. Melan-A and MiTF were each positive in 15/19 (79%) tumors, but staining extent and intensity were much more variable than HMB-45. Five of six (83%) malignant PEComas also harbored alterations in TP53, ATRX, or RB1, findings not identified in any tumors of uncertain malignant potential. One malignant PEComa was microsatellite-unstable/mismatch repair protein-deficient.In summary, TSC alterations/TFE3 fusions and diffuse (>50%) HMB-45 expression are characteristic of uterine PEComas. In morphologically ambiguous mesenchymal neoplasms with myomelanocytic differentiation, especially those with metastatic or recurrent disease, next-generation sequencing is recommended to evaluate for TSC alterations; as such, patients can be eligible for targeted therapy.
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