Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma

Sanna K. Ylisaukko-oja, Cezary Cybulski, Rainer Lehtonen, Maija Ht Kiuru, Joanna Matyjasik, Anna Szymañska, Jolanta Szymañska-Pasternak, Lars Dyrskjot, Ralf Butzow, Torben F. Orntoft, Virpi Launonen, Jan Lubiñski, Lauri A. Aaltonen

Research output: Contribution to journalArticlepeer-review

23 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)880-883
Number of pages4
JournalEuropean Journal of Human Genetics
Issue number7
StatePublished - Jul 2006
Externally publishedYes


  • Fumarate hydratase
  • Ovarian tumors

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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