ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2014
MED12 and HMGA2 mutations: two independent genetic events in uterine leiomyoma and leiomyosarcoma.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 2 of them syntheses that pooled it.
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Who cites it
82 citing papers in PubMed, 2 syntheses or guidelines pooled it, 170 citations in OpenAlex.
- Molecular Insights in Uterine Leiomyosarcoma: A Systematic Review.International journal of molecular sciences · 2022Pooled it
- Frequency of MED12 Mutation in Relation to Tumor and Patient's Clinical Characteristics: a Meta-analysis.Reproductive sciences (Thousand Oaks, Calif.) · 2022Pooled it
- The estrogen-progestogen-oxidative stress network in uterine fibroids: mechanistic insights and therapeutic opportunities.Redox report : communications in free radical research · 2026Review
- Clinicopathological and molecular features of uterine smooth muscle tumours in patients with Li-Fraumeni syndrome.Histopathology · 2026Article
- Effects of female hormone withdrawal and ulipristal acetate on MED12 mutation positive and negative uterine leiomyomas using a xenograft model.Scientific reports · 2025Article
- Transcriptome profiling of uterine leiomyosarcomas identifies a leiomyoma-like expression pattern that indicates better survival.BJC reports · 2025Article
- UTERINE FIBROIDS.Physiological reviews · 2025Review
- MED12 dysregulation: insights into cancer and therapeutic resistance.Naunyn-Schmiedeberg's archives of pharmacology · 2025Review
- Article
- Genomic characterization and histologic analysis of uterine leiomyosarcoma arising from leiomyoma with bizarre nuclei.The Journal of pathology · 2025Article
- SomaticCells · 2024Article
- Article
- Uterine leiomyoma with RAD51B::NUDT3 fusion: a report of 2 cases.Virchows Archiv : an international journal of pathology · 2024Article
- Review
- Racial disparity in uterine leiomyoma: new insights of genetic and environmental burden in myometrial cells.Molecular human reproduction · 2024Review
- NNMT overexpression is an adverse prognostic factor in uterine leiomyosarcoma.Turkish journal of medical sciences · 2024Article
- Potential Markers to Differentiate Uterine Leiomyosarcomas from Leiomyomas.International journal of medical sciences · 2024Review
- Developments in Genetics: Better Management of Ovarian Cancer Patients.International journal of molecular sciences · 2023Review
- Reproductive Functions of the Mitochondrial Progesterone Receptor (PR-M).Reproductive sciences (Thousand Oaks, Calif.) · 2023Review
- Racial differences in transcriptomics and reactive oxygen species burden in myometrium and leiomyoma.Human reproduction (Oxford, England) · 2023Article
22 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
Recent identification of somatic MED12 mutations in most uterine leiomyomas brings a new venue for the study of the tumorigenesis of leiomyomas. We are particularly interested in the correlation of MED12 and HMGA2 gene products in leiomyomas and leiomyosarcomas with and without MED12 mutations. To address these issues, in this study we examined MED12 mutations in a large cohort of usual type leiomyomas (178 cases) and uterine leiomyosarcomas (32 cases). We found that 74.7% (133/178) of leiomyomas had MED12 mutations, which was consistent with several independent studies. In contrast, only 9.7% (3/32) of leiomyosarcomas harbored MED12 mutations. Expression analysis by western blot and immunohistochemistry revealed that those leiomyomas with complex MED12 mutations had significantly lower protein products than the matched myometrium. Interestingly, most leiomyosarcomas without MED12 mutations also had very low levels of MED12 expression in comparison to the matched myometrium. These findings suggest a potential functional role of MED12 in both benign and malignant uterine smooth muscle tumors. When we further examined HMGA2 expression in all leiomyomas and leiomyosarcomas, we found that HMGA2 overexpression was exclusively present in those leiomyomas with no MED12 mutation, accounting for 10.1% (18/178) of total leiomyomas and 40% (18/45) of non-MED12 mutant leiomyomas. Twenty-five percent (8/32) of leiomyosarcomas had HMGA2 overexpression, and no MED12 mutations were found in HMGA2 positive leiomyosarcoma. These findings strongly suggest that MED12 mutations and HMGA2 overexpression are independent genetic events that occur in leiomyomas, and they may act differently in the tumorigenesis of uterine leiomyomas.
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