Gynecologic perivascular epithelioid cell tumors (PEComas): a review of recent evidence

Area of Science:

• Gynecologic Oncology
• Pathology
• Oncogenomics

Background:

• Perivascular epithelioid cell (PEC) tumors, or PEComas, are rare neoplasms affecting the female reproductive tract.
• Gynecologic PEComas exhibit diverse site presentations, with uterine involvement being most common.
• High-quality literature on gynecologic PEComas is scarce, posing diagnostic and therapeutic challenges.

Purpose of the Study:

• To provide an updated understanding of gynecologic PEComas through a systematic literature review.
• To consolidate current knowledge on the epidemiology, molecular alterations, clinical behavior, and treatment of these rare tumors.
• To identify gaps in the literature and advocate for future research directions.

Main Methods:

• Systematic review of existing literature on gynecologic PEComas.
• Analysis of reported data on tumor site, diagnostic challenges, mutations, survival, and treatment outcomes.
• Synthesis of findings to provide a comprehensive overview.

Main Results:

• Uterine PEComas are the most prevalent subtype.
• Diagnostic challenges exist, particularly for malignant PEComas.
• mTOR pathway alterations are the most frequently observed mutations.
• High rates of local recurrence and distant metastasis (commonly to the lungs) are reported.
• Treatment options are limited, with mTOR inhibitors and chemotherapy showing potential efficacy in select cases.

Conclusions:

• Gynecologic PEComas are rare, challenging to diagnose, and have a propensity for recurrence and metastasis.
• mTOR alterations are a key molecular feature.
• Limited treatment strategies exist, though mTOR inhibitors show promise.
• There is a critical need for multicentric studies, an international registry, and standardized reporting to advance understanding and management.