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- 저자 : Fangzhou Kong (검색결과 1 건)
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Nan Kang,Yinli Zhang,Shichao Guo,Ran Chen,Fangzhou Kong,Shuchun Wang,Mingming Yuan,Rongrong Chen,Danhua Shen,Jianliu Wang 대한암학회 2023 Cancer Research and Treatment Vol.55 No.3
Purpose The 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.Results <i>TP53</i> and <i>DNMT3A</i> mutations were the most frequent mutations. The classical fusions frequently found in <i>HGESS</i> (<i>ZC3H7B-BCOR</i> and <i>NUTM2B-YWHAE</i>) and LGESS (<i>JAZF1-SUZ12</i>) were detected in our cohort. <i>CCND1</i> was significantly up-regulated in HGESS, while the expression of <i>GPER1</i> and <i>PGR</i> 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 <i>ZC3H7B-BCOR</i> fusion was relatively higher than that of those with <i>NUTM2B-YWHAE</i> fusion.Conclusion This 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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