Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma

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

Research output: Contribution to journalArticleScientificpeer-review

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
JournalEuropean Journal of Human Genetics
Volume14
Issue number7
Pages (from-to)880-883
Number of pages4
ISSN1018-4813
DOIs
Publication statusPublished - 2006
MoE publication typeA1 Journal article-refereed

Fields of Science

  • fumarate hydratase
  • HLRCC
  • ovarian tumors
  • RENAL-CELL CANCER
  • HEREDITARY LEIOMYOMATOSIS
  • UTERINE LEIOMYOMATA
  • MISSENSE MUTATIONS
  • FAMILIES
  • FH
  • DEFICIENCY
  • GENE
  • 312 Clinical medicine

Cite this

Ylisaukko-oja, Sanna K. ; Cybulski, Cezary ; Lehtonen, Rainer ; Kiuru, Maija ; Matyjasik, Joanna ; Szymanska, Anna ; Szymanska-Pasternak, Jolanta ; Dyrskjot, Lars ; Butzow, Ralf ; Orntoft, Torben F. ; Launonen, Virpi ; Lubinski, 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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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.",
keywords = "fumarate hydratase, HLRCC, ovarian tumors, RENAL-CELL CANCER, HEREDITARY LEIOMYOMATOSIS, UTERINE LEIOMYOMATA, MISSENSE MUTATIONS, FAMILIES, FH, DEFICIENCY, GENE, 312 Clinical medicine",
author = "Ylisaukko-oja, {Sanna K.} and Cezary Cybulski and Rainer Lehtonen and Maija Kiuru and Joanna Matyjasik and Anna Szymanska and Jolanta Szymanska-Pasternak and Lars Dyrskjot and Ralf Butzow and Orntoft, {Torben F.} and Virpi Launonen and Jan Lubinski and Aaltonen, {Lauri A.}",
year = "2006",
doi = "10.1038/sj.ejhg.5201630",
language = "English",
volume = "14",
pages = "880--883",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
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Ylisaukko-oja, SK, Cybulski, C, Lehtonen, R, Kiuru, M, Matyjasik, J, Szymanska, A, Szymanska-Pasternak, J, Dyrskjot, L, Butzow, R, Orntoft, TF, Launonen, V, Lubinski, 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

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

In: European Journal of Human Genetics, Vol. 14, No. 7, 2006, p. 880-883.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma

AU - Ylisaukko-oja, Sanna K.

AU - Cybulski, Cezary

AU - Lehtonen, Rainer

AU - Kiuru, Maija

AU - Matyjasik, Joanna

AU - Szymanska, Anna

AU - Szymanska-Pasternak, Jolanta

AU - Dyrskjot, Lars

AU - Butzow, Ralf

AU - Orntoft, Torben F.

AU - Launonen, Virpi

AU - Lubinski, Jan

AU - Aaltonen, Lauri A.

PY - 2006

Y1 - 2006

N2 - 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.

AB - 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.

KW - fumarate hydratase

KW - HLRCC

KW - ovarian tumors

KW - RENAL-CELL CANCER

KW - HEREDITARY LEIOMYOMATOSIS

KW - UTERINE LEIOMYOMATA

KW - MISSENSE MUTATIONS

KW - FAMILIES

KW - FH

KW - DEFICIENCY

KW - GENE

KW - 312 Clinical medicine

U2 - 10.1038/sj.ejhg.5201630

DO - 10.1038/sj.ejhg.5201630

M3 - Article

VL - 14

SP - 880

EP - 883

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 7

ER -