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Sci Rep. 2017 Apr 21;7(1):1015. doi: 10.1038/s41598-017-01199-0.

Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas.

Author information

1
Department of Medical and Clinical Genetics and Genome-Scale Biology Research Program, P.O. Box 63, FIN-00014 University of Helsinki, Helsinki, Finland.
2
Department of Pathology, P.O. Box 21, FIN-00014 University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
3
Department of Obstetrics and Gynaecology, P.O. Box 140, FIN-00029 University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
4
Department of Medical and Clinical Genetics and Genome-Scale Biology Research Program, P.O. Box 63, FIN-00014 University of Helsinki, Helsinki, Finland. lauri.aaltonen@helsinki.fi.

Abstract

Up to 86% of uterine leiomyomas harbour somatic mutations in mediator complex subunit 12 (MED12). These mutations have been associated with conventional histology, smaller tumour size, and larger number of tumours within the uterus. Prior studies, with limited sample sizes, have failed to detect associations between other clinical features and MED12 mutations. Here, we prospectively collected 763 uterine leiomyomas and the corresponding normal myometrial tissue from 244 hysterectomy patients, recorded tumour characteristics, collected clinical data from medical records, and screened the tissue samples for MED12 mutations to assess potential associations between clinical variables and mutation status. Out of 763 leiomyomas, 599 (79%) harboured a MED12 mutation. In the analysis of tumour characteristics, positive MED12-mutation status was significantly associated with smaller tumour size, conventional histology, and subserous location, relative to intramural. In the analysis of clinical variables, the number of MED12-mutation-positive tumours showed an inverse association with parity, and the number of mutation-negative tumours showed a positive association with a history of pelvic inflammatory disease. This study confirmed the previously reported differences and discovered novel differentiating features for MED12-mutation-positive and -negative leiomyomas. These findings emphasise the relevance of specific driver mutations in genesis and presentation of uterine leiomyomas.

PMID:
28432313
PMCID:
PMC5430741
DOI:
10.1038/s41598-017-01199-0
[Indexed for MEDLINE]
Free PMC Article

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