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Article

Fumarase-deficient Uterine Leiomyomas

22 Jul 2016

Abstract excerpt

Loss-of-function germline mutations in the fumarase (FH) gene of the Krebs cycle characterize hereditary leiomyomatosis and renal cell cancer syndrome. Fumarase (FH) deficiency can be diagnosed by the loss of immunohistochemical expression. In this study, we investigated the occurrence and clinicopathologic features of FH-deficient uterine smooth muscle tumors (SMTs). A total of 1583 uterine and 157 nonuterine...

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PMID: 27454940
DOI: 10.1097/pas.0000000000000703

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