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Article

MiT fusions, TSC1-TSC2 divergence, and stem-like programs reveal distinct origins and vulnerabilities in PEComa.

Nature communications - 23 Jun 2026

Gantzer Justine, Lu Xiaofan, Charon-Barra Céline, Vinson Charles, Weingertner Noëlle, Fattori Antonin, Chenard Marie-Pierre, Plassard Damien, Vicaire Serge, Le Loarer François, Toulmonde Maud, Karanian Marie, Brahmi Mehdi, Ngo Carine, Le Cesne Axel, Hervieu Alice, Mescam-Mancini Lenaïg, Bertucci François, Beaujot Juliette, Ryckewaert Thomas, Rochaix Philippe, Valentin Thibaud, Macagno Nicolas, Duffaud Florence, Tallegas Matthias, Chetaille Bruno, Valo Isabelle, Bompas Emmanuelle, Lae Marick, Delalande Flore, Llamas-Gutierrez Francisco, Rioux-Leclercq Nathalie, Blay Jean-Yves, Kurtz Jean-Emmanuel, Malouf Gabriel G

Abstract excerpt

Perivascular epithelioid cell neoplasms (PEComas) are ultra-rare mesenchymal tumors lacking a molecular classification to guide therapy. Here we perform comprehensive multi-omic profiling of an unselected PEComa cohort. We identify frequent MITF rearrangements involving actin gene partners (ACTA2, ACTG1 and ACTB). Anatomical stratification reveals cyclin-dependent kinase module mutations in gynecologic tumors,...

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Topics

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Share to ACTA2 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to RB1 gene

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Share to Oncogene Proteins, Fusion

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Share to Tuberous Sclerosis Complex 1 Protein

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Source

Open in PubMed Open full text

Identifiers

PMID: 42331846
DOI: 10.1038/s41467-026-74545-4
PMCID: PMC13442851

Genes

MITF
ACTA2
ACTB
ACTG1
RB1
TP53
TSC1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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