Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas
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 d...
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Nature Portfolio
2017
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oai:doaj.org-article:15a7fd008b7b42a49d3e827b391c47722021-12-02T12:30:37ZMultiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas10.1038/s41598-017-01199-02045-2322https://doaj.org/article/15a7fd008b7b42a49d3e827b391c47722017-04-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-01199-0https://doaj.org/toc/2045-2322Abstract 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.Hanna-Riikka HeinonenAnnukka PasanenOskari HeikinheimoTomas TanskanenKimmo PalinJaana TolvanenPia VahteristoJari SjöbergEsa PitkänenRalf BützowNetta MäkinenLauri A. AaltonenNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-7 (2017) |
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Medicine R Science Q Hanna-Riikka Heinonen Annukka Pasanen Oskari Heikinheimo Tomas Tanskanen Kimmo Palin Jaana Tolvanen Pia Vahteristo Jari Sjöberg Esa Pitkänen Ralf Bützow Netta Mäkinen Lauri A. Aaltonen Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas |
| description |
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. |
| format |
article |
| author |
Hanna-Riikka Heinonen Annukka Pasanen Oskari Heikinheimo Tomas Tanskanen Kimmo Palin Jaana Tolvanen Pia Vahteristo Jari Sjöberg Esa Pitkänen Ralf Bützow Netta Mäkinen Lauri A. Aaltonen |
| author_facet |
Hanna-Riikka Heinonen Annukka Pasanen Oskari Heikinheimo Tomas Tanskanen Kimmo Palin Jaana Tolvanen Pia Vahteristo Jari Sjöberg Esa Pitkänen Ralf Bützow Netta Mäkinen Lauri A. Aaltonen |
| author_sort |
Hanna-Riikka Heinonen |
| title |
Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas |
| title_short |
Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas |
| title_full |
Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas |
| title_fullStr |
Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas |
| title_full_unstemmed |
Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas |
| title_sort |
multiple clinical characteristics separate med12-mutation-positive and -negative uterine leiomyomas |
| publisher |
Nature Portfolio |
| publishDate |
2017 |
| url |
https://doaj.org/article/15a7fd008b7b42a49d3e827b391c4772 |
| work_keys_str_mv |
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1718394319466921984 |