用双重DNA/RNA面板进行儿科固体瘤的基因组分析:JCCG-TOP2研究
Kayoko Tao1,2,3, Takako Yoshioka4, Miho Kato5
1Department of Pediatrics, National Cancer Center Hospital, Tokyo, Japan.
Cancer science
|November 17, 2025
概括
日本的一项全国性基因组分析项目证明了TOP2系统对儿科癌症的临床实用性. 这种精准医学平台在大多数患者中确定了可操作的基因组变化,支持将其纳入标准护理.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 儿科医学 儿科医学
背景情况:
- 儿童癌症需要先进的诊断和治疗策略.
- 基因组医学为各种癌症提供了个性化的治疗方法.
研究的目的:
- 建立和评估一个针对儿科固体瘤的全国性基因组医学平台.
- 在这个人群中评估TOP2混合捕获-丰富系统的临床实用性.
主要方法:
- 一项前性观察性研究,分析了0-29岁患者的匹配血液和FFPE瘤样本.
- 利用TOP2系统对DNA和RNA面板进行测序,分别针对737和455个基因.
- 包括单个等位基因的基因组拷贝数变化分析.
主要成果:
- 在日本50个机构招募了210名儿童癌症患者.
- 72%的基因组检测结果的患者有潜在可行的发现 (诊断,预后,治疗).
- 在23%的患者中发现了致癌融合,在83%的患者中发现了复制数的改变,在8%的患者中发现了生殖系变异.
结论:
- 在临床上,TOP2系统对于诊断儿科固体瘤非常有用.
- 为儿童癌症建立一个全国性的精准医学平台是可行的.
- 支持将基因组数据整合到儿童癌症患者的标准临床护理中.
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