期刊
SCIENTIFIC REPORTS
卷 7, 期 -, 页码 -出版社
NATURE PORTFOLIO
DOI: 10.1038/s41598-017-01199-0
关键词
-
资金
- European Research Council (ERC) [695727]
- Academy of Finland (Centre of Excellence in Cancer Genetics Research) [250345]
- Nordic Information for Action eScience Centre (NIASC)
- Nordic Centre of Excellence - NordForsk [62721]
- Biomedicum Helsinki Foundation
- Cancer Society of Finland
- Emil Aaltonen Foundation
- Finnish Medical Society Duodecim
- Finnish-Norwegian Medical Foundation
- Ida Montin Foundation
- Kliinisen kemian tutkimussaatio
- Maud Kuistila Memorial Foundation
- Oskar Oflunds stiftelse
- European Research Council (ERC) [695727] Funding Source: European Research Council (ERC)
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据