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使用循环瘤DNA分析,对晚期结直肠癌中PIK3CA突变的综合分析

Allante Milsap¹, Jill Tsai², Baqir Jafry³

¹Department of Internal Medicine, University of Texas Southwestern, 5323 Harry Hines Blvd, Dallas, TX, 75390, USA.

NPJ precision oncology

|July 3, 2025

概括

在晚期结直肠癌 (CRC) 中,PIK3CA突变很常见. 这些突变与较高的瘤突变负担和特定的遗传改变相关,表明基因组不稳定性并告知向治疗.

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:

在晚期结直肠癌 (CRC) 中,PIK3CA突变很普遍,与预后不佳有关.
在CRC中PIK3CA突变的精确预后值和基因组背景需要进一步阐明.

研究的目的:

在一大批晚期CRC患者中调查PIK3CA突变 (PIK3CAm) 的基因组景观.
分析突变同时发生,微卫星高不稳定性 (MSI-H) 状态,瘤突变负担 (TMB) 和特定突变频率.

主要方法:

基于血的循环瘤DNA (ctDNA) 分析,来自大约17000名晚期CRC患者,使用Guarant360数据库.
评估突变同时发生的模式,MSI-H状态,TMB分数和异构特异性突变频率.

主要成果:

在19.2%的晚期CRC病例中发现了PIK3CAm,其频率和外子分布与现有文献一致.
PIK3CAm与MSI-H的同时发生率较低,TMB得分较高,与APC,BRAF,EGFR,ERBB2和KRAS的频繁共同变化.
这些同时发生的变化表明PIK3CAm与CRC中基因组不稳定性的增加之间存在潜在联系.

结论:

在晚期结直肠癌的基因组概况中,PIK3CA突变起着重要作用.
与PIK3CAm相关的观察到的基因组不稳定性支持了针对性治疗策略的需要.
对PIK3CAm的进一步研究对于开发CRC个性化治疗方法至关重要.

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