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精准医学计划在中国儿科患者与肉瘤

Suying Lu¹, Yu Zhang², Weiling Zhang³

¹Department of Pediatric Oncology, State Key Laboratory of Oncology in South China, Guangdong Provincial Clinical Research Center for Cancer, Collaborative Innovation Center for Cancer Medicine, Sun Yat-sen University Cancer Center, Guangzhou, PR China.

JCO precision oncology

|January 14, 2026

概括

这项研究分析了中国儿科的肉瘤,发现大多数患者都有分子偏差. 这些遗传变化与治疗反应和瘤特征相关,突出显示了分子分析的必要性.

科学领域:

儿科瘤学儿科瘤学
分子病理学分子病理学
基因组学就是基因组学.

背景情况:

在中国,儿科瘤的分子概况基本上是未知的.
中国儿科精密瘤学集团 (CPPOG) 旨在定义这些配置文件,以改善诊断和治疗.
这是CPPOG对儿科肉瘤试验的第一份报告.

研究的目的:

描述中国儿童肉瘤的分子概况.
为了识别特定亚型的体质变化和激活的途径.
将分子特征与治疗反应和病理特征相关联.

主要方法:

面板测序 (830基因DNA,395基因RNA) 在210名儿科患者的214个瘤上进行.
在2021年4月至2022年1月期间,从中国11个中心收集了瘤.
前性分析侧重于表征变化,途径和子组特征.

主要成果:

88.3%的瘤至少有一种体质或生殖系变异;51.4%的瘤具有基因融合.
在46.3%的患者中发现了可操作的治疗目标; 14.3%的患者根据分子发现修改了诊断.
常见的改变包括TP53突变和EWSR1-FLI1融合;TP53,PI3K和RTK-RAS通路是最常被激活的. 在进展性疾病中,TP53和NRAS突变更高.

结论:

这项研究提供了中国儿科瘤的初始分子景观.
分子变化与治疗反应和病理特征相关.
建议对小儿肉瘤诊断和治疗计划进行面板测序.

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