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Perivascular Epithelioid Cell Tumors: Pathogenesis, Clinical Features, and Radiologic Challenges.

Douglas Rogers1, Reham Ellessy1, Matthew Simpson1

  • 1Department of Radiology and Imaging Sciences, University of Utah, 50 N Medical Dr, Salt Lake City, UT 84132.

Radiographics : a Review Publication of the Radiological Society of North America, Inc
|May 13, 2026
PubMed
Summary
This summary is machine-generated.

Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal neoplasms with diverse presentations. This review highlights their shared genetic, imaging, and histopathologic features across various locations, aiding diagnosis.

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Area of Science:

  • Oncology
  • Pathology
  • Radiology

Background:

  • Perivascular epithelioid cell tumors (PEComas) are uncommon mesenchymal neoplasms with dual myomelanocytic differentiation.
  • They can arise in various anatomic locations due to an unclear cell of origin.
  • PEComas are often linked to mutations in TSC1, TSC2, or TFE3 genes, impacting mTOR signaling.

Purpose of the Study:

  • To provide a comprehensive review of PEComas.
  • To highlight shared and site-specific genetic, histopathologic, and imaging features.
  • To emphasize the radiologist's role in identifying PEComas due to varied presentations and potential diagnostic overlap.

Main Methods:

  • Comprehensive literature review of PEComas.
  • Analysis of genetic alterations (TSC1, TSC2, TFE3 mutations).
  • Correlation of histopathologic and imaging findings across different anatomic sites.

Main Results:

  • PEComas exhibit shared genetic underpinnings, often involving mTOR pathway activation.
  • Common imaging features include avid enhancement and fat presence, reflecting tumor angiogenesis and adiposity.
  • Diverse anatomic sites show site-specific manifestations and potential imaging pitfalls.

Conclusions:

  • Radiologists are crucial in recognizing PEComas due to varied presentations and overlap with common tumors.
  • Understanding shared and site-specific features aids in accurate diagnosis and management.
  • Targeting the mTOR pathway is critical for malignant PEComa management.