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MED12 mutation frequency in unselected sporadic uterine leiomyomas.
Fertil Steril. 2014 Oct; 102(4):1137-42.FS

Abstract

OBJECTIVE

To determine the frequency of mediator complex subunit 12 (MED12) mutations in well-documented, prospectively collected, unselected series of sporadic uterine leiomyomas to better understand the contribution of MED12 mutations in leiomyoma genesis.

DESIGN

Mutation analysis of two prospectively collected sample series.

SETTING

Department of gynecology in university hospital and medical genetics research laboratory.

PATIENT(S)

164 uterine leiomyomas from 28 patients (13 consecutive and 15 unselected patients) undergoing hysterectomy.

INTERVENTION(S)

MED12 mutation screening by direct sequencing, and clinical data collection.

MAIN OUTCOME MEASURE(S)

MED12 mutation status and various clinical variables.

RESULT(S)

MED12 mutations were found in 73 (83.0%) of 88 and 65 (85.5%) of 76 of uterine leiomyomas from the consecutive and unselected patient series, respectively. Smaller tumor size and a larger number of tumors correlated with positive MED12 mutation status.

CONCLUSION(S)

The frequency of MED12 mutations in our prospectively collected uterine leiomyoma sets was higher than in previous works. This is in keeping with the concept that MED12 mutation-positive tumors tend to be smaller in size than MED12 mutation-negative tumors. The results highlight the central role of MED12 mutations in uterine leiomyoma genesis.

Authors+Show Affiliations

Department of Medical Genetics, University of Helsinki, Helsinki, Finland; Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland; Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland; Institute of Biomedicine, Biochemistry and Developmental Biology, University of Helsinki, Helsinki, Finland.Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland.Department of Medical Genetics, University of Helsinki, Helsinki, Finland; Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.Department of Medical Genetics, University of Helsinki, Helsinki, Finland; Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.Department of Medical Genetics, University of Helsinki, Helsinki, Finland; Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.Department of Medical Genetics, University of Helsinki, Helsinki, Finland; Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.Department of Medical Genetics, University of Helsinki, Helsinki, Finland; Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland. Electronic address: lauri.aaltonen@helsinki.fi.

Pub Type(s)

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

Language

eng

PubMed ID

25108465

Citation

Heinonen, Hanna-Riikka, et al. "MED12 Mutation Frequency in Unselected Sporadic Uterine Leiomyomas." Fertility and Sterility, vol. 102, no. 4, 2014, pp. 1137-42.
Heinonen HR, Sarvilinna NS, Sjöberg J, et al. MED12 mutation frequency in unselected sporadic uterine leiomyomas. Fertil Steril. 2014;102(4):1137-42.
Heinonen, H. R., Sarvilinna, N. S., Sjöberg, J., Kämpjärvi, K., Pitkänen, E., Vahteristo, P., Mäkinen, N., & Aaltonen, L. A. (2014). MED12 mutation frequency in unselected sporadic uterine leiomyomas. Fertility and Sterility, 102(4), 1137-42. https://doi.org/10.1016/j.fertnstert.2014.06.040
Heinonen HR, et al. MED12 Mutation Frequency in Unselected Sporadic Uterine Leiomyomas. Fertil Steril. 2014;102(4):1137-42. PubMed PMID: 25108465.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MED12 mutation frequency in unselected sporadic uterine leiomyomas. AU - Heinonen,Hanna-Riikka, AU - Sarvilinna,Nanna S, AU - Sjöberg,Jari, AU - Kämpjärvi,Kati, AU - Pitkänen,Esa, AU - Vahteristo,Pia, AU - Mäkinen,Netta, AU - Aaltonen,Lauri A, Y1 - 2014/08/06/ PY - 2014/04/28/received PY - 2014/06/12/revised PY - 2014/06/26/accepted PY - 2014/8/11/entrez PY - 2014/8/12/pubmed PY - 2014/12/15/medline KW - Fibroids KW - MED12 KW - genetics KW - uterine leiomyomas SP - 1137 EP - 42 JF - Fertility and sterility JO - Fertil. Steril. VL - 102 IS - 4 N2 - OBJECTIVE: To determine the frequency of mediator complex subunit 12 (MED12) mutations in well-documented, prospectively collected, unselected series of sporadic uterine leiomyomas to better understand the contribution of MED12 mutations in leiomyoma genesis. DESIGN: Mutation analysis of two prospectively collected sample series. SETTING: Department of gynecology in university hospital and medical genetics research laboratory. PATIENT(S): 164 uterine leiomyomas from 28 patients (13 consecutive and 15 unselected patients) undergoing hysterectomy. INTERVENTION(S): MED12 mutation screening by direct sequencing, and clinical data collection. MAIN OUTCOME MEASURE(S): MED12 mutation status and various clinical variables. RESULT(S): MED12 mutations were found in 73 (83.0%) of 88 and 65 (85.5%) of 76 of uterine leiomyomas from the consecutive and unselected patient series, respectively. Smaller tumor size and a larger number of tumors correlated with positive MED12 mutation status. CONCLUSION(S): The frequency of MED12 mutations in our prospectively collected uterine leiomyoma sets was higher than in previous works. This is in keeping with the concept that MED12 mutation-positive tumors tend to be smaller in size than MED12 mutation-negative tumors. The results highlight the central role of MED12 mutations in uterine leiomyoma genesis. SN - 1556-5653 UR - https://www.unboundmedicine.com/medline/citation/25108465/MED12_mutation_frequency_in_unselected_sporadic_uterine_leiomyomas_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0015-0282(14)00586-X DB - PRIME DP - Unbound Medicine ER -