38. Fumarate hydratase-deficient uterine leiomyoma – Case report and literature review

Background: Fumarate hydratase (FH) deficient leiomyoma can be associated with hereditary leiomyomatosis and renal cell cancer (HLRCC) which is an AD syndrome where affected individuals are predisposed to the development of multiple leiomyomas of the skin, uterus and kidney cancer. Most patients with HLRCC will develop FH-deficient leiomyoma, however, majority of FH-deficient leiomyomas seem to occur sporadically.1 Loss-of-function germ line mutations in the FH gene on chromosome 1q42.3-q43, characterise HLRCC syndrome and can be screened by the loss of immunohistochemical (IHC) expression of FH.