ArticleCancer research and treatment2023
Genomic and Transcriptomic Characterization Revealed the High Sensitivity of Targeted Therapy and Immunotherapy in a Subset of Endometrial Stromal Sarcoma.
Article in Cancer research and treatment, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Sintilimab‑related cystitis/ureteritis in high‑grade endometrial stromal sarcoma: A case report and structured literature review.Human vaccines & immunotherapeutics · 2026Review
- Uterine Stroma-Derived Tumors and the Extracellular Matrix: A Comparative Review of Benign and Malignant Pathologies.Cancers · 2025Review
- Endometrial Stromal Sarcoma: An Update.Cancers · 2025Review
- Molecular Insights in Endometrial Stromal Sarcomas: Exploring New Targets for Novel Therapeutic Approaches.Biomolecules · 2025Review
- Genomics of uterine malignancies and the potential of precision medicine.Therapeutic advances in medical oncology · 2025Review
- NTRK-rearranged spindle cell neoplasm of the female genital tract: case report and literature review.Frontiers in oncology · 2025Article
- Integrated Transcriptomic Landscape and Deep Learning Based Survival Prediction in Uterine Sarcomas.Cancer research and treatment · 2025Article
- Risk factors, survival analysis, and nomograms for high-grade endometrial stromal sarcoma patients with distant metastasis: a population-based study (2010-2019).Frontiers in oncology · 2025Article
- Immunotherapy for high-grade endometrial stromal sarcoma: a narrative review bridging molecular insights to clinical translation.Frontiers in immunology · 2025Review
- Genomic and T cell repertoire biomarkers associated with malignant mesothelioma survival.Thoracic cancer · 2024Article
- Single-cell RNA-seq revealsFrontiers in immunology · 2024Article
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10 authors.
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Abstract
purposeThe unique chromosomal rearrangements of endometrial stromal sarcoma (ESS) make it possible to distinguish high-grade ESS (HGESS) and low-grade ESS (LGESS) from the molecular perspective. Analysis of ESS at the genomic and transcriptomic levels can help us achieve accurate diagnosis of ESS and provide potential therapy options for ESS patients. Materials and Methods: A total of 36 ESS patients who conducted DNA- and/or RNA-based next-generation sequencing were retrospectively enrolled in this study. The molecular characteristics of ESS at genomic and transcriptomic levels, including mutational spectrum, fusion profiles, gene expression and pathway enrichment analysis and features about immune microenvironment were comprehensively explored.
resultsTP53 and DNMT3A mutations were the most frequent mutations. The classical fusions frequently found in HGESS (ZC3H7B-BCOR and NUTM2B-YWHAE) and LGESS (JAZF1-SUZ12) were detected in our cohort. CCND1 was significantly up-regulated in HGESS, while the expression of GPER1 and PGR encoding estrogen receptor (ER) and progesterone receptor (PR) did not differ significantly between HGESS and LGESS. Actionable mutations enriched in homologous recombination repair, cell cycle, and phosphoinositide 3-kinase/AKT/mammalian target of rapamycin pathways were detected in 60% of HGESS patients. Genes with up-regulated expression in HGESS were significantly enriched in five immune-related pathways. Most HGESS patients (85.7%) had positive predictors of immunotherapy efficacy. Moreover, immune microenvironment analysis showed that HGESS had relatively high immune infiltration. The degree of immune infiltration in HGESS patients with ZC3H7B-BCOR fusion was relatively higher than that of those with NUTM2B-YWHAE fusion.
conclusionThis study investigated the molecular characteristics of ESS patients at the genomic and transcriptomic levels and revealed the potentially high sensitivity of targeted therapy and immunotherapy in a subset of HGESS with specific molecular features, providing a basis for guiding decision-making of treatment and the design of future clinical trials on precision therapy.
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