Case Report: mTOR inhibitor treatment for epithelioid angiomyolipoma harboring biallelic <i>TSC2</i> mutations.

ABSTRACT:

Introduction

Angiomyolipoma (AML) is a mesenchymal tumor composed of blood vessels, smooth muscle, and adipose tissue, and is generally considered benign. However, epithelioid angiomyolipoma (eAML) is a rare and aggressive variant with metastatic potential. Molecular characterization utilizing the tuberous sclerosis complex (TSC)-mTOR pathway is beneficial in advanced disease. This report describes the clinical course, histopathological findings, and molecular analysis of a patient with metastatic eAML.

Methods

A 59-year-old Japanese man with no personal or family history of tuberous sclerosis (TSC) was admitted to the hospital with gradually worsening back pain and initially diagnosed with clear cell renal cell carcinoma (ccRCC). He underwent nephrectomy, followed by hepati

SUBMITTER: Ishikawa S 

PROVIDER: S-EPMC12900712 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature