Fumarate hydratase-deficient renal cell carcinoma: A case report and literature review

Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a rare but aggressive subtype of renal cancer associated with germline or somatic mutations of the FH gene. The histology demonstrates a broad range of morphologic patterns with loss of FH immunostaining. There is no standard therapy approved for FH-deficient RCC, and treatment is often extrapolated from other subtypes of RCC. With a better understanding of the molecular mechanism and pathogenesis, more studies including this population are ongoing. We reported a 33-year-old man with no relevant family history diagnosed with locally advanced FH-deficient RCC and who later developed distant metastasis. He received erlotinib-bevacizumab combination therapy and achieved a partial response. We also performed a literature review of FH-deficient RCC.