title: Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.
abstract: Germline mutations in the fumarate hydratase (FH) gene were recently shown to predispose to the dominantly inherited syndrome, hereditary leiomyomatosis and renal cell cancer (HLRCC). HLRCC is characterized by benign leiomyomas of the skin and the uterus, renal cell carcinoma, and uterine leiomyosarcoma. The aim of this study was to identify new families with FH mutations, and to further examine the tumor spectrum associated with FH mutations. FH germline mutations were screened from 89 patients with RCC, skin leiomyomas or ovarian tumors. Subsequently, 13 ovarian and 48 bladder carcinomas were analyzed for somatic FH mutations. Two patients diagnosed with ovarian mucinous cystadenoma (two out of 33, 6%) were found to be FH germline mutation carriers. One of the changes was a novel mutation (Ala231Thr) and the other one (435insAAA) was previously described in FH deficiency families. These results suggest that benign ovarian tumors may be associated with HLRCC.
authors.affiliation: Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
authors.forename: Sanna K
authors.initials: SK
authors.lastname: Ylisaukko-oja
authors.forename: Cezary
authors.initials: C
authors.lastname: Cybulski
authors.forename: Rainer
authors.initials: R
authors.lastname: Lehtonen
authors.forename: Maija
authors.initials: M
authors.lastname: Kiuru
authors.forename: Joanna
authors.initials: J
authors.lastname: Matyjasik
authors.forename: Anna
authors.initials: A
authors.lastname: Szymañska
authors.forename: Jolanta
authors.initials: J
authors.lastname: Szymañska-Pasternak
authors.forename: Lars
authors.initials: L
authors.lastname: Dyrskjot
authors.forename: Ralf
authors.initials: R
authors.lastname: Butzow
authors.forename: Torben F
authors.initials: TF
authors.lastname: Orntoft
authors.forename: Virpi
authors.initials: V
authors.lastname: Launonen
authors.forename: Jan
authors.initials: J
authors.lastname: Lubiñski
authors.forename: Lauri A
authors.initials: LA
authors.lastname: Aaltonen
mesh_terms: D002292:Carcinoma, Renal Cell / Q000235:genetics; D018282:Cystadenocarcinoma, Mucinous / Q000235:genetics; D018291:Cystadenoma, Mucinous / Q000235:genetics*; D005260:Female; D005649:Fumarate Hydratase / Q000235:genetics*; D005799:Genes, Dominant; D018095:Germ-Line Mutation; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics; D007889:Leiomyoma / Q000235:genetics; D008297:Male; D009369:Neoplasms / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics; D001749:Urinary Bladder Neoplasms / Q000235:genetics
chemical_list: D005649:Fumarate Hydratase