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Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening.
Hum Reprod. 2012 Jun; 27(6):1865-9.HR

Abstract

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome characterized by cutaneous and uterine leiomyomas and renal cell cancer. HLRCC is caused by heterozygous germline mutations in the fumarate hydratase (FH) gene. A Finnish family with nine closely related women with uterine leiomyomas was detected by an alert gynecologist. No cutaneous or renal cell tumors were reported in the family when it was referred to genetic analyses. Samples were available from seven patients, and a novel germline FH mutation was detected in five of them. Mutation carriers were symptomatic, had multiple tumors and were diagnosed at an early age. This study emphasizes the importance of considering FH mutation screening when gynecologists encounter families with multiple severe uterine leiomyoma cases. Due to possibility of phenocopies more than one patient should be tested. Early mutation detection allows regular screening of the mutation carriers and enables early detection of possible highly aggressive renal tumors. It may also affect family planning as multiple myomas at early age may significantly reduce fertility.

Authors+Show Affiliations

Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22473397

Citation

Tolvanen, Jaana, et al. "Strong Family History of Uterine Leiomyomatosis Warrants Fumarate Hydratase Mutation Screening." Human Reproduction (Oxford, England), vol. 27, no. 6, 2012, pp. 1865-9.
Tolvanen J, Uimari O, Ryynänen M, et al. Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening. Hum Reprod. 2012;27(6):1865-9.
Tolvanen, J., Uimari, O., Ryynänen, M., Aaltonen, L. A., & Vahteristo, P. (2012). Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening. Human Reproduction (Oxford, England), 27(6), 1865-9. https://doi.org/10.1093/humrep/des105
Tolvanen J, et al. Strong Family History of Uterine Leiomyomatosis Warrants Fumarate Hydratase Mutation Screening. Hum Reprod. 2012;27(6):1865-9. PubMed PMID: 22473397.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening. AU - Tolvanen,Jaana, AU - Uimari,Outi, AU - Ryynänen,Markku, AU - Aaltonen,Lauri A, AU - Vahteristo,Pia, Y1 - 2012/04/03/ PY - 2012/4/5/entrez PY - 2012/4/5/pubmed PY - 2012/9/18/medline SP - 1865 EP - 9 JF - Human reproduction (Oxford, England) JO - Hum Reprod VL - 27 IS - 6 N2 - Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome characterized by cutaneous and uterine leiomyomas and renal cell cancer. HLRCC is caused by heterozygous germline mutations in the fumarate hydratase (FH) gene. A Finnish family with nine closely related women with uterine leiomyomas was detected by an alert gynecologist. No cutaneous or renal cell tumors were reported in the family when it was referred to genetic analyses. Samples were available from seven patients, and a novel germline FH mutation was detected in five of them. Mutation carriers were symptomatic, had multiple tumors and were diagnosed at an early age. This study emphasizes the importance of considering FH mutation screening when gynecologists encounter families with multiple severe uterine leiomyoma cases. Due to possibility of phenocopies more than one patient should be tested. Early mutation detection allows regular screening of the mutation carriers and enables early detection of possible highly aggressive renal tumors. It may also affect family planning as multiple myomas at early age may significantly reduce fertility. SN - 1460-2350 UR - https://www.unboundmedicine.com/medline/citation/22473397/Strong_family_history_of_uterine_leiomyomatosis_warrants_fumarate_hydratase_mutation_screening_ L2 - https://academic.oup.com/humrep/article-lookup/doi/10.1093/humrep/des105 DB - PRIME DP - Unbound Medicine ER -