ArticleThe American journal of surgical pathology2015
Dichotomy of Genetic Abnormalities in PEComas With Therapeutic Implications.
Article in The American journal of surgical pathology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers, 1 of them a synthesis that pooled it.
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Who cites it
99 citing papers in PubMed, 1 synthesis or guideline pooled it, 254 citations in OpenAlex.
- New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Guideline
- Primary Hepatic Perivascular Epithelioid Cell Tumors: From Diagnosis to Treatment.Life (Basel, Switzerland) · 2026Review
- Article
- YAP1::TFE3-rearranged inflammatory spindle cell PEComa of the anterior mediastinum in a 5-year-old child: first pediatric case.Virchows Archiv : an international journal of pathology · 2026Article
- Article
- 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
- PEComas: current concepts in diagnosis, molecular pathways, and emerging treatments.The oncologist · 2026Review
- Article
- Mutational profile of atypical fibroxanthoma and pleomorphic dermal sarcoma further expands the spectrum of genomic alterations in rare cutaneous neoplasms.Scientific reports · 2026Article
- Cutaneous soft tissue tumors in the 5th edition of the World Health Organization classification of skin tumors: key updates and new entities.Journal of pathology and translational medicine · 2026Article
- Renal sclerosing AML/PEComa in a male - A case report and literature review.Urology case reports · 2026Article
- Youngest known case of a pancreatic perivascular epithelioid cell tumor.JPGN reports · 2026Article
- TFE3-Rearranged PEComa(-Like Neoplasm) of the Chest Wall Diagnosed by Fine-Needle Aspiration: A Case Report.Diagnostic cytopathology · 2026Article
- Perivascular Epithelioid Cell Neoplasm of the Lung: A Patient Case Report.Case reports in pathology · 2026Article
- Clinicopathological and molecular features of gynecologic perivascular epithelioid cell tumors: a single-center study.Frontiers in oncology · 2026Article
- Micronodular PEComa of the appendix: a case report.Frontiers in medicine · 2026Article
- 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
- Perivascular Epithelioid Cell Tumor of the Lung With a NovelInternational journal of surgical pathology · 2025Article
- Article
39 more citing papers are in PubMed but not listed here.
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Authors and funding
9 authors at 1 institution in 2 countries.
Funding
Abstract
Perivascular epithelioid cell neoplasms (PEComa) are a family of rare mesenchymal tumors with hybrid myo-melanocytic differentiation. Although most PEComas harbor loss-of-function TSC1/TSC2 mutations, a small subset were reported to carry TFE3 gene rearrangements. As no comprehensive genomic study has addressed the molecular classification of PEComa, we sought to investigate by multiple methodologies the incidence and spectrum of genetic abnormalities and their potential genotype-phenotype correlations in a large group of 38 PEComas. The tumors were located in soft tissue (11 cases) and visceral sites (27) including uterus, kidney, liver, lung, and urinary bladder. Combined RNA sequencing and fluorescence in situ hybridization analysis identified 9 (23%) TFE3 gene-rearranged tumors, with 3 cases showing an SFPQ/PSF-TFE3 fusion and 1 case showing a novel DVL2-TFE3 gene fusion. The TFE3-positive lesions showed a distinctive nested/alveolar morphology and were equally distributed between soft tissue and visceral sites. In addition, novel RAD51B gene rearrangements were identified in 3 (8%) uterine PEComas, which showed a complex fusion pattern and were fused to RRAGB/OPHN1 genes in 2 cases. Other nonrecurrent gene fusions, HTR4-ST3GAL1 and RASSF1-PDZRN3, were identified in 2 cases. Targeted exome sequencing using the IMPACT assay was used to address whether the presence of gene fusions is mutually exclusive from TSC gene abnormalities. TSC2 mutations were identified in 80% of the TFE3 fusion-negative cases tested. Coexistent TP53 mutations were identified in 63% of the TSC2-mutated PEComas. Our results showed that TFE3-rearranged PEComas lacked coexisting TSC2 mutations, indicating alternative pathways of tumorigenesis. In summary, this comprehensive genetic analysis significantly expands our understanding of molecular alterations in PEComas and brings forth the genetic heterogeneity of these tumors.
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