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基于瘤NGS数据的中国人群的泌尿生殖系统恶性瘤的体质变化

Xin Lu¹, Xiang Zhang², Shaochen Cheng³

¹Urology, The First Affiliated Hospital of Naval Medical University, Shanghai, China.

Urologic oncology

|December 6, 2025

概括

与西方队伍相比,中国泌尿生殖系统癌症的基因组分析揭示了与西方队伍相比不同的突变格局. 这些发现支持在膀,脏和前列腺癌治疗中需要针对区域量身定制的精确瘤学策略.

科学领域:

在瘤学瘤学.
基因组学就是基因组学.
分子生物学分子生物学

背景情况:

生殖泌尿系统恶性瘤是一个重大的全球健康挑战,在中国的发病率越来越高.
对于患有这些癌症的中国患者,仅有有限的综合基因组数据.
这项研究解决了对基因组景观进行表征的需求,以发现改善诊断和治疗的生物标志物.

研究的目的:

在中国患者中,描述尿生殖系统癌症 (膀,脏,前列腺) 的突变格局.
确定潜在的基因组生物标志物,以改善诊断和治疗.
将基因组资料与西方群体进行比较,以了解种群特异性.

主要方法:

针对680个基因小组的下一代测序 (NGS) 对来自244名中国患者的321个瘤样本进行了针对性测序.
分析了体质突变概况,并在膀,脏和前列腺癌类型中进行了比较.
基因组数据与已建立的西方队列 (例如,MSK-IMPACT) 进行了比较.

主要成果:

根据癌症类型 (膀13.89%,脏10.00%,前列腺4.55%) 的PD-L1阳性程度有所不同.
经常发生突变的基因包括VHL,TP53,KMT2D,KMT2C和TERT.
观察到特定基因 (例如,膀癌中的TP53,CCNE1) 和PD-L1表达之间存在显著的相关性.
对比分析显示了中度的基因重叠,但与西方队列的频率一致性较弱,表明了特定于人群的基因组差异.

结论:

这项研究提供了对中国患者泌尿生殖系统癌症的全面基因组特征.
在不同类型的泌尿生殖系统癌症中确定了不同的突变特征和PD-L1相关基因.
中国和西方人群之间的基因组异质性支持针对区域的精确瘤学方法的开发.

关键词:

中国人口中国人口.尿生殖系统恶性瘤下一代测序测序是什么身体的改变身体的改变

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