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Fumarate hydratase-deficient renal cell carcinoma, including hereditary leiomyomatosis and renal cell carcinoma syndrome
Definition
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A variant of renal cell carcinoma defined by loss of protein expression of fumarate hydratase (FH) on immunohistochemistry; the majority of tumors occur in the setting of hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC) with germline mutation in FH gene
Clinical features
Epidemiology
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Rare
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Mean age, 44 years (range, 21–65)
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Male to female ratio is 1.9:1
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