期刊
MODERN PATHOLOGY
卷 26, 期 5, 页码 743-749出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/modpathol.2012.203
关键词
fibroid; leiomyoma; leiomyosarcoma; MED12; oncogene; smooth muscle tumor; uterus
类别
资金
- Daniel K. Ludwig Trust for Cancer Research
- Sarcoma Alliance for Research Through Collaboration (SARC) Career Development Award
- Department of Pharmacology, Universita di Bologna
- Italian Society of Pharmacology
- Fondazione del Monte di Bologna e Ravenna
Leiomyoma and leiomyosarcoma share morphological features and smooth muscle differentiation, and both arise most frequently within the uterine corpus of middle-aged women. However, they are considered biologically unrelated tumors due to their disparate clinical, cytogenetic, and molecular features. MED12, the mediator complex subunit 12 gene, has been recently implicated as an oncogene in as many as 70% of sporadic uterine leiomyoma. In the present study, we show MED12 hotspot exon 2 mutations in extrauterine leiomyoma (3 of 19 cases) and in leiomyosarcoma (3 of 13 uterine cases). We also show that MED12 mutations are found in both primary and metastatic leiomyosarcoma. Immunoblotting studies demonstrated MED12 protein expression in 100% of leiomyomas (13) and leiomyosarcomas (20), irrespective of MED12 exon 2 mutation status or histological grade. These findings indicate that MED12 has oncogenic roles in a broad range of smooth muscle neoplasia, including tumors arising in extrauterine locations.
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