Fumarate hydratase (fumarase) is a ubiquitous enzyme that catalyzes the conversion of fumarate to S-malate in the tricarboxylic acid cycle and amino acid metabolism. A subset of leiomyomas and renal cell carcinomas (RCC) demonstrate loss of function of fumarase, which may occur through mutation or deletion of the FH gene on chromosome 1q42.3-q43 in a sporadic or germline fashion. Heterozygous germline loss of function results in hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC). HLRCC is characterized by development of multiple pilar and uterine leiomyomas, and early development of aggressive RCCs.
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