ArticleMolecular cancer2017
Characterization of MED12, HMGA2, and FH alterations reveals molecular variability in uterine smooth muscle tumors.
Article in Molecular cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 107 citations in OpenAlex.
- Insights on Medical Therapy for Uterine Fibroids: A Review.Advances in therapy · 2026Review
- Postmenopausal Enlargement of a Presumed Leiomyoma Revealing STUMP: A Diagnostic Pitfall with Important Clinical Implications-A Case Report.Diagnostics (Basel, Switzerland) · 2026Article
- Epithelioid leiomyosarcoma harboring HMGA2::RAD51B fusion: expanding the spectrum of RAD51B-rearranged uterine sarcoma.Virchows Archiv : an international journal of pathology · 2026Article
- Uterine cellular leiomyoma with a novel HMGA2::PLCZ1 fusion and aberrant cyclin D1 expression: expanding the molecular spectrum and highlighting a diagnostic pitfall.Virchows Archiv : an international journal of pathology · 2026Article
- Transcriptome profiling of uterine leiomyosarcomas identifies a leiomyoma-like expression pattern that indicates better survival.BJC reports · 2025Article
- The Mediator Complex: A Regulatory Hub for Transcriptional Activity of Nuclear Receptors.Cells · 2025Review
- Activation of FGFR genes by genetic and epigenetic alterations in uterine leiomyomas.BJC reports · 2025Article
- Detection of exon2-MED12 mutations in uterine leiomyomas from Syrian patients.Scientific reports · 2025Article
- Pelvic Malignant Tumor with Liver Metastasis is Actually Conventional Leiomyoma with Abdominal Metastasis.Surgical case reports · 2025Article
- Benign metastasizing fumarate hydratase (FH)-deficient uterine leiomyomas: clinicopathological and molecular study with first documentation of multi-organ metastases.Virchows Archiv : an international journal of pathology · 2024Article
- Uterine leiomyoma with RAD51B::NUDT3 fusion: a report of 2 cases.Virchows Archiv : an international journal of pathology · 2024Article
- Review
- Quantification of the immunometabolite protein modifications S-2-succinocysteine and 2,3-dicarboxypropylcysteine.American journal of physiology. Endocrinology and metabolism · 2024Article
- Fumarate hydratase mutation associated uterine leiomyomas: A case report and literature review.Clinical case reports · 2024Article
- Racial disparity in uterine leiomyoma: new insights of genetic and environmental burden in myometrial cells.Molecular human reproduction · 2024Review
- Uterine smooth muscle tumors of uncertain malignant potential: a 13-year retrospective study.Frontiers in oncology · 2024Article
- Immunohistochemical Expression of the SERPINA3 Protein in Uterine Fibroids.Current pharmaceutical biotechnology · 2024Article
- Novel Approaches to Possible Targeted Therapies and Prophylaxis of Uterine Fibroids.Diseases (Basel, Switzerland) · 2023Review
- Molecular-Based Immunohistochemical Algorithm for Uterine Leiomyosarcoma Diagnosis.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2023Article
- A View on Uterine Leiomyoma Genesis through the Prism of Genetic, Epigenetic and Cellular Heterogeneity.International journal of molecular sciences · 2023Review
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Uterine smooth muscle tumors range from benign leiomyomas to malignant leiomyosarcomas. Based on numerous molecular studies, leiomyomas and leiomyosarcomas mostly lack shared mutations and the majority of tumors are believed to develop through distinct mechanisms. To further characterize the molecular variability among uterine smooth muscle tumors, and simultaneously insinuate their potential malignant progression, we examined the frequency of known genetic leiomyoma driver alterations (MED12 mutations, HMGA2 overexpression, biallelic FH inactivation) in 65 conventional leiomyomas, 94 histopathological leiomyoma variants (18 leiomyomas with bizarre nuclei, 22 cellular, 29 highly cellular, and 25 mitotically active leiomyomas), and 51 leiomyosarcomas. Of the 210 tumors analyzed, 107 had mutations in one of the three driver genes. No tumor had more than one mutation confirming that all alterations are mutually exclusive. MED12 mutations were the most common alterations in conventional and mitotically active leiomyomas and leiomyosarcomas, while leiomyomas with bizarre nuclei were most often FH deficient and cellular tumors showed frequent HMGA2 overexpression. Highly cellular leiomyomas displayed the least amount of alterations leaving the majority of tumors with no known driver aberration. Our results indicate that based on the molecular background, histopathological leiomyoma subtypes do not only differ from conventional leiomyomas, but also from each other. The presence of leiomyoma driver alterations in nearly one third of leiomyosarcomas suggests that some tumors arise through leiomyoma precursor lesion or that these mutations provide growth advantage also to highly aggressive cancers. It is clinically relevant to understand the molecular background of various smooth muscle tumor subtypes, as it may lead to improved diagnosis and personalized treatments in the future.
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