ArticleThe journal of pathology. Clinical research2021
TFE3 activation in a TSC1-altered malignant PEComa: challenging the dichotomy of the underlying pathogenic mechanisms.
Article in The journal of pathology. Clinical research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 24 citations in OpenAlex.
- TFE3-rearranged PEComa with hepatic and pulmonary involvement: diagnostic challenges and resistance to mTOR-targeted therapy.Journal of cancer research and clinical oncology · 2026Article
- Recent developments in eosinophilic renal neoplasms: what's new, true and important?Histopathology · 2026Review
- TSC2-mutated perivascular epithelioid cell tumor with partial response to mTOR inhibition: a case report and literature review.Discover oncology · 2025Article
- PEComa progressed by mTOR inhibitor therapy with anti-VEGFR TKI combined with PD-1 inhibitor: a case report.Frontiers in oncology · 2025Article
- Review
- Comprehensive Insights Into Renal Perivascular Epithelioid Cell Neoplasms: From Molecular Mechanisms to Clinical Practice.World journal of oncology · 2024Review
- Case report: Liver PEComa after kidney transplantation in recipient with tuberous sclerosis complex.Frontiers in oncology · 2024Article
- Systemic Treatments and Molecular Biomarkers for Perivascular Epithelioid Cell Tumors: A Single-institution Retrospective Analysis.Cancer research communications · 2023Article
- A rare metastatic mesenteric malignant PEComa with TSC2 mutation treated with palliative surgical resection and nab-sirolimus: a case report.Diagnostic pathology · 2023Article
- Primary Xp11 translocation PEComa of the testis with SFPQ⁃TFE3 rearrangement: a case report and review of the literature.Diagnostic pathology · 2023Review
- Management Strategies for Adults with Locally Advanced, Unresectable or Metastatic Malignant Perivascular Epithelioid Cell Tumor (PEComa): Challenges and Solutions.Cancer management and research · 2023Review
- Case Report: Perivascular epithelioid tumors of the gastrointestinal tract.Frontiers in oncology · 2022Article
- Case report: Kidney perivascular epithelioid cell tumor treated with anti-VEGFR tyrosine kinase inhibitor and MTOR inhibitor.Frontiers in oncology · 2022Article
- Review
- Primary malignant PEComa of the mandible. Report of an unusual case.Journal of clinical and experimental dentistry · 2021Article
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Authors and funding
17 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Perivascular epithelioid cell tumors (PEComas) form a family of rare mesenchymal neoplasms that typically display myomelanocytic differentiation. Upregulation of mTOR signaling due the inactivation of TSC1/2 (Tuberous Sclerosis 1 and 2) is believed to be a key oncogenic driver in this disease. Recently, a subgroup of PEComas harboring TFE3 (Transcription Factor E3) rearrangements and presenting with a distinctive morphology has been identified. TSC1/2 and TFE3 aberrations are deemed to be mutually exclusive in PEComa, with two different pathogenic mechanisms assumed to lead to tumorigenesis. Here, we challenge this dichotomy by presenting a case of a clinically aggressive TCS1-mutated PEComa displaying a TFE3-altered phenotype. FISH analysis was suggestive of a TFE3 inversion; however, RNA and whole genome sequencing was ultimately unable to identify a fusion involving the gene. However, a copy number increase of the chromosomal region encompassing TFE3 was detected and transcriptome analysis confirmed upregulation of TFE3, which was also seen at the protein level. Therefore, we believe that the TSC1/2-mTOR pathway and TFE3 overexpression can simultaneously contribute to tumorigenesis in PEComa. Our comprehensive genetic analyses add to the understanding of the complex pathogenic mechanisms underlying PEComa and harbor insights for clinical treatment options.
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