Perivascular Epithelioid Cell Tumor (PECOMA)

Overview

Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal neoplasm composed of distinctive perivascular epithelioid cells showing myomelanocytic differentiation, classified under Soft Tissue Sarcoma in OncoTree (parent: SOFT_TISSUE). A subset is driven by TSC1/TSC2 loss leading to mTOR pathway activation; this subset is responsive to mTOR inhibitors.

Cohorts in the corpus

  • sarcoma_ucla_2024: represented in the 24-subtype UCLA sarcoma PDTO biobank; SARC0086_3 was a PEComa specimen evaluated in the drug screen (194 specimens from 126 patients, Feb 2018–May 2022). PMID:39305899

Recurrent alterations

  • TSC1/TSC2 loss (mTOR activation): canonical driver in a subset; not directly genotyped in the UCLA PDTO study.
  • CDK4: tested via palbociclib in SARC0086_3 (PEComa PDTO) as part of broad sarcoma drug screen. PMID:39305899

Subtypes

  • TSC1/TSC2-mutant (mTOR-activated) PEComa — responds to sirolimus/everolimus
  • TSC-wild-type PEComa — distinct biology, mTOR-inhibitor responses less predictable

Therapeutic landscape

Sources

  • PMID:39305899 — Al Shihabi et al. Cell Stem Cell 2024. UCLA sarcoma PDTO drug-sensitivity landscape.

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