Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt–Hogg–Dubé syndrome

Hereditary renal cell carcinoma (RCC) accounts for 5% of renal cancers and is mostly autosomal dominant inheritance. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) and Birt–Hogg–Dube (BHD) syndromes are caused by mutations in the fumarate hydratase (FH) and folliculin (FLCN) genes, respectively. Over 200 families with HLRCC and over 600 families with BHD have been reported in the literature, and their RCC penetrance is approximately 30%. Two variants FLCN p.Arg527Glnfs*75 and FH p.Gly397Arg were detected in a rare family with concurrent HLRCC and BHD, and two carriers with both variants were found to have FH-deficient papillary RCC. The phenotype-genetic association analysis and cell function identification indicates that simultaneously carrying the responsible mutations in two tumor suppressor genes increases the penetrance of renal cancer. (By Professor Jie-Wei Luo, )

The Kidney-related Rare Diseases Research Group in Fujian Provincial Hospital

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