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 journalArticle

22 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)880-883
Number of pages4
JournalEuropean Journal of Human Genetics
Volume14
Issue number7
DOIs
StatePublished - Jul 2006
Externally publishedYes

Fingerprint

Fumarate Hydratase
Mucinous Cystadenoma
Mutation
Germ-Line Mutation
Leiomyoma
Neoplasms
Skin
Leiomyosarcoma
Renal Cell Carcinoma
Uterus
Urinary Bladder
Carcinoma
Genes

Keywords

  • Fumarate hydratase
  • HLRCC
  • Ovarian tumors

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Ylisaukko-oja, S. K., Cybulski, C., Lehtonen, R., Kiuru, M. H., Matyjasik, J., Szymañska, A., ... Aaltonen, L. A. (2006). Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma. European Journal of Human Genetics, 14(7), 880-883. https://doi.org/10.1038/sj.ejhg.5201630

Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma. / Ylisaukko-oja, Sanna K.; Cybulski, Cezary; Lehtonen, Rainer; Kiuru, Maija Ht; Matyjasik, Joanna; Szymañska, Anna; Szymañska-Pasternak, Jolanta; Dyrskjot, Lars; Butzow, Ralf; Orntoft, Torben F.; Launonen, Virpi; Lubiñski, Jan; Aaltonen, Lauri A.

In: European Journal of Human Genetics, Vol. 14, No. 7, 07.2006, p. 880-883.

Research output: Contribution to journalArticle

Ylisaukko-oja, SK, Cybulski, C, Lehtonen, R, Kiuru, MH, Matyjasik, J, Szymañska, A, Szymañska-Pasternak, J, Dyrskjot, L, Butzow, R, Orntoft, TF, Launonen, V, Lubiñski, J & Aaltonen, LA 2006, 'Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma', European Journal of Human Genetics, vol. 14, no. 7, pp. 880-883. https://doi.org/10.1038/sj.ejhg.5201630
Ylisaukko-oja, Sanna K. ; Cybulski, Cezary ; Lehtonen, Rainer ; Kiuru, Maija Ht ; Matyjasik, Joanna ; Szymañska, Anna ; Szymañska-Pasternak, Jolanta ; Dyrskjot, Lars ; Butzow, Ralf ; Orntoft, Torben F. ; Launonen, Virpi ; Lubiñski, Jan ; Aaltonen, Lauri A. / Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma. In: European Journal of Human Genetics. 2006 ; Vol. 14, No. 7. pp. 880-883.
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