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

Show full item record



Permalink

http://hdl.handle.net/10138/196936

Citation

Heinonen , H-R , Pasanen , A , Heikinheimo , O , Tanskanen , T , Palin , K , Tolvanen , J , Vahteristo , P , Sjoberg , J , Pitkänen , E , Butzow , R , Makinen , N & Aaltonen , L A 2017 , ' Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas ' , Scientific Reports , vol. 7 , 1015 . https://doi.org/10.1038/s41598-017-01199-0

Title: Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas
Author: Heinonen, Hanna-Riikka; Pasanen, Annukka; Heikinheimo, Oskari; Tanskanen, Tomas; Palin, Kimmo; Tolvanen, Jaana; Vahteristo, Pia; Sjoberg, Jari; Pitkänen, Esa; Butzow, Ralf; Makinen, Netta; Aaltonen, Lauri A.
Contributor: University of Helsinki, Research Programs Unit
University of Helsinki, Medicum
University of Helsinki, Clinicum
University of Helsinki, Research Programs Unit
University of Helsinki, Research Programs Unit
University of Helsinki, Research Programs Unit
University of Helsinki, Research Programs Unit
University of Helsinki, University of Helsinki
University of Helsinki, Research Programs Unit
University of Helsinki, Department of Pathology
University of Helsinki, Research Programs Unit
University of Helsinki, Research Programs Unit
Date: 2017-04-21
Language: eng
Number of pages: 7
Belongs to series: Scientific Reports
ISSN: 2045-2322
URI: http://hdl.handle.net/10138/196936
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.
Subject: MED12 EXON-2 MUTATIONS
SMOOTH-MUSCLE TUMORS
RISK-FACTORS
FREQUENCY
FIBROIDS
WOMEN
GENE
3111 Biomedicine
3123 Gynaecology and paediatrics
Rights:


Files in this item

Total number of downloads: Loading...

Files Size Format View
s41598_017_01199_0.pdf 1.297Mb PDF View/Open

This item appears in the following Collection(s)

Show full item record