title: Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.
abstract: Fumarate hydratase (FH) is a key enzyme of the Krebs cycle. Germline mutations in the FH gene encoding fumarate hydratase cause autosomal dominant syndromes multiple cutaneous and uterine leiomyomata and hereditary leiomyomatosis and renal cell cancer (HLRCC). Few data have been published on the role of FH gene mutation in development of uterine fibroids outside the context of multiple cutaneous and uterine leiomyomata /HLRCC. We report two FH gene mutations, one novel and one previously described, in two young patients with sporadic uterine fibroids and decreased fumarate hydratase activity in lymphocytes. In patient 1, a novel heterozygous mutation c.892G>C was found. In patient 2 we detected heterozygous mutation c.584T>C. Both the patients had a negative family history for renal cancer and cutaneous leiomyomatosis. None of the relatives, however, underwent renal imaging at the time of writing. FH mutation carriers may be easily identified by analysis of fumarate hydratase activity in blood lymphocytes. We suggest performing fumarate hydratase activity or FH mutation screening in women with onset of uterine fibroids in their 20s and family history of uterine fibroids or other HLRCC-associated malignancies.
authors: Departments of Obstetrics and Gynecology Pediatrics and Adolescent Medicine Genetics, First Faculty of Medicine, Charles University General University Hospital in Prague, Prague, Czech Republic. kristynakubinova@gmail.com
authors: Kristyna
authors: K
authors: Kubinova
authors: Marketa
authors: M
authors: Tesarova
authors: Hana
authors: H
authors: Hansikova
authors: Kamila
authors: K
authors: Vesela
authors: David
authors: D
authors: Kuzel
authors: Michal
authors: M
authors: Mara
mesh_terms: D000328:Adult; D005260:Female; D005649:Fumarate Hydratase / Q000235:genetics*; D006801:Humans; D007889:Leiomyoma / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics* / Q000601:surgery; D009154:Mutation; D016896:Treatment Outcome; D014463:Ultrasonography; D063186:Uterine Myomectomy; D014594:Uterine Neoplasms / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics* / Q000601:surgery
chemical_list: D005649:Fumarate Hydratase