Scholarlink

<p>Pediatric soft tissue sarcomas (STS) are rare malignancies that present significant challenges in diagnosis and treatment. Comprehensive genomic profiling holds promise in addressing these challenges by revealing the molecular drivers of these tumors. In this study, we conducted DNA sequencing on 50 pediatric STS samples, encompassing a diverse range of histologies. Utilizing advanced sequencing technologies and analytical tools, we identified recurrent genetic alterations that may guide diagnostic and therapeutic strategies. The most frequent mutations included alterations in EWSR1-FLI1, TP53, KRAS, and IGF1R. Notably, 34% of patients harbored mutations in the RTK-RAS signaling pathway, and 11 previously unreported gene mutations were identified. Gene amplifications were more common in rhabdomyosarcoma, while gene fusions were predominantly observed in non-rhabdomyosarcoma subtypes, particularly Ewing sarcoma. Our analysis of cooperative mutations revealed four groups of co-occurring genetic alterations, with no evidence of mutually exclusive mutations. Clinically, we observed significant correlations between specific genetic mutations and clinical parameters, such as age at diagnosis and fibrinogen levels, providing insights into potential prognostic factors. These findings offer a detailed genetic landscape of pediatric STS, emphasizing the importance of genomic profiling in improving diagnostic accuracy and identifying new therapeutic targets for this rare cancer.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Comprehensive genomic profiling refines diagnosis and reveals clinically relevant alterations in pediatric Soft tissue sarcomas

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年2月23日

查看全文
  • Jianwu Zhou,
  • Xiaobin Deng,
  • Liang Peng,
  • Yifei Du,
  • Jian Sun,
  • Yao Zhang,
  • Zijie Zhou,
  • Chao Yang,
  • Shan Wang

摘要

Pediatric soft tissue sarcomas (STS) are rare malignancies that present significant challenges in diagnosis and treatment. Comprehensive genomic profiling holds promise in addressing these challenges by revealing the molecular drivers of these tumors. In this study, we conducted DNA sequencing on 50 pediatric STS samples, encompassing a diverse range of histologies. Utilizing advanced sequencing technologies and analytical tools, we identified recurrent genetic alterations that may guide diagnostic and therapeutic strategies. The most frequent mutations included alterations in EWSR1-FLI1, TP53, KRAS, and IGF1R. Notably, 34% of patients harbored mutations in the RTK-RAS signaling pathway, and 11 previously unreported gene mutations were identified. Gene amplifications were more common in rhabdomyosarcoma, while gene fusions were predominantly observed in non-rhabdomyosarcoma subtypes, particularly Ewing sarcoma. Our analysis of cooperative mutations revealed four groups of co-occurring genetic alterations, with no evidence of mutually exclusive mutations. Clinically, we observed significant correlations between specific genetic mutations and clinical parameters, such as age at diagnosis and fibrinogen levels, providing insights into potential prognostic factors. These findings offer a detailed genetic landscape of pediatric STS, emphasizing the importance of genomic profiling in improving diagnostic accuracy and identifying new therapeutic targets for this rare cancer.