ArticleThe journal of pathology. Clinical research2020
Endometrial stromal sarcomas with BCOR-rearrangement harbor MDM2 amplifications.
Article in The journal of pathology. Clinical research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 46 citations in OpenAlex.
- High-grade uterine endometrial stromal sarcoma harboring GLI1 and MDM2/CDK4 co-amplifications.Diagnostic pathology · 2025Article
- Comparative Characterization of Tumor Microenvironments in Monophasic and Biphasic Synovial Sarcomas.International journal of molecular sciences · 2025Article
- A Novel Odontogenic Carcinoma with CDK4/MDM2 Co-Amplification: Expanding the Phenotypic Spectrum of Malignant Odontogenic Entities.Head and neck pathology · 2025Article
- Molecular Landscape of Endometrial Stromal Tumors.JCO precision oncology · 2025Article
- BCOR abnormalities in endometrial stromal sarcoma.Gynecologic oncology reports · 2025Review
- Obinutuzumab combined with bendamustine for the treatment of hairy cell leukemia variant: a case report and literature review.Frontiers in oncology · 2025Article
- Advancement in Multi-omics approaches for Uterine Sarcoma.Biomarker research · 2024Review
- Clinicopathological characteristics and prognosis of uterine sarcoma: a 10-year retrospective single-center study in China.Diagnostic pathology · 2024Article
- Uterine Mesenchymal Tumors: Updates on Pathology, Molecular Landscape, and Therapeutics.Medicina (Kaunas, Lithuania) · 2024Review
- Soft Tissue Sarcomas with Chromosomal Alterations in the 12q13-15 Region: Differential Diagnosis and Therapeutic Implications.Cancers · 2024Review
- High-grade endometrial stromal sarcoma withInternational journal of clinical and experimental pathology · 2024Article
- Breast metastasis in high-grade endometrial stromal sarcoma (HG-ESS) with BCOR rearrangement: a case report of a novel metastatic site.Diagnostic pathology · 2023Article
- Epigenetic Features in Uterine Leiomyosarcoma and Endometrial Stromal Sarcomas: An Overview of the Literature.Biomedicines · 2022Review
- Giant retroperitoneal liposarcoma treated with radical conservative surgery: A case report and review of literature.World journal of clinical cases · 2022Article
- LG-ESSs and HG-ESSs: underlying molecular alterations and potential therapeutic strategies.Journal of Zhejiang University. Science. B · 2021Review
- MDM2 Amplified Sarcomas: A Literature Review.Diagnostics (Basel, Switzerland) · 2021Review
- Update on Endometrial Stromal Tumours of the Uterus.Diagnostics (Basel, Switzerland) · 2021Review
- Molecular pathogenesis and prognostication of "low-grade'' and "high-grade" endometrial stromal sarcoma.Genes, chromosomes & cancer · 2021Review
- Article
- Highly Invasive and Metastatic High-grade Endometrial Stromal Sarcoma WithIn vivo (Athens, Greece)Article
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Authors and funding
16 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recently a novel subtype of endometrial stromal sarcoma (ESS) defined by recurrent genomic alterations involving BCOR has been described (HGESS-BCOR). We identified a case of HGESS-BCOR with a ZC3H7B-BCOR gene fusion, which harbored an amplification of the MDM2 locus. This index case prompted us to investigate MDM2 amplification in four additional cases of HGESS-BCOR. Tumors were analyzed for MDM2 amplification by array-based profiling of copy number alterations (CNAs) and fluorescence in situ hybridization (FISH), as well as for MDM2 expression by immunohistochemistry (IHC). Additionally, a cohort of other mesenchymal uterine neoplasms, including 17 low-grade ESS, 6 classical high-grade ESS with YWHAE-rearrangement, 16 uterine tumors resembling ovarian sex cord tumors, 7 uterine leiomyomas and 8 uterine leiomyosarcomas, was analyzed for CNAs in MDM2. Copy number profiling identified amplification of the 12q15 region involving the MDM2 locus in all five HGESS-BCOR. Subsequent validation analyses of three tumors confirmed MDM2 amplification using MDM2 FISH. Accordingly, IHC showed MDM2 overexpression in all analyzed cases. None of the other uterine neoplasms in our series, including tumors that are in the histopathological differential diagnoses of HGESS-BCOR, showed copy number gains of MDM2. Together, our results indicate that HGESS-BCOR carries MDM2 amplifications, which has diagnostic implications and could potentially be used for targeted therapies in these clinically aggressive tumors.
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