Fumarate hydratase-deficient renal cell carcinoma with sarcomatoid features: a case report.

ABSTRACT:

Background

Fumarate hydratase-deficient renal cell carcinoma (FH-RCC) is a rare and highly aggressive form of renal cell carcinoma (RCC), with only a few hundred cases reported worldwide. Sarcomatoid renal cell carcinoma (SRCC) is a distinctive histologic variant of RCC, accounting for approximately 1.0-1.5% of renal parenchymal tumors. To date, no standardized treatment guidelines have been established for RCC characterized by the concurrent presence of FH deficiency and sarcomatoid features.

Case description

We report a case of sarcomatoid RCC with multiple bone metastases, presenting clinically with persistent lower back pain. Genetic testing revealed a germline mutation in the FH gene. After 6 months of combined treatment with immune checkpoint inhibitors (ICIs) and tyro

SUBMITTER: Wang J 

PROVIDER: S-EPMC12319620 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature