Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers

We addressed uncertainties regarding hereditary leiomyomatosis and renal cell carcinoma ( HLRCC ) by exploring all French cases, representing the largest series to date. Fumarate hydratase ( FH ) germline testing was performed with Sanger sequencing and qPCR / MLPA . Enzyme activity was measured when necessary. We carried out whenever possible a pathology review of RCC and S‐(2‐succino)‐cysteine ( 2SC )/fumarate hydratase immunohistochemistry....