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转移性微卫星稳定结直肠癌的存活率与瘤突变负担相关,以及通过下一代测序识别的突变

Nicholas Taflin¹, Lyndsey Sandow², Rajat Thawani³

¹Division of Oncology, Department of Internal Medicine, The University of Utah, Salt Lake City, UT, USA.

Journal of gastrointestinal oncology

|May 17, 2024

概括

高瘤突变负担 (TMB) 并没有显著影响微卫星稳定结直肠癌 (CRC) 的存活率. 像KRAS和CDKN2A这样的特定突变与更糟糕的预后相关,需要更好的生物标志物来对CRC患者的免疫检查点抑制剂 (ICI) 治疗反应作出反应.

科学领域:

在瘤学瘤学.
基因组学就是基因组学.
癌症治疗方法癌症治疗方法

背景情况:

下一代测序 (NGS) 检测瘤突变负担 (TMB),这是免疫检查点抑制剂 (ICI) 在固体瘤中的有效性的生物标志物.
在微卫星稳定 (MSS) 大肠直肠癌 (CRC) 中,高TMB和ICI有效性的预后价值仍然没有确定性.
这项研究调查了TMB,特定突变和MSS CRC患者的结果之间的相关性.

研究的目的:

为了评估高TMB在MSS结直肠癌的预后意义.
评估特定突变 (KRAS,CDKN2A) 对MSSCRC的生存的影响.
探索免疫检查点抑制剂 (ICI) 在高TMB的MSSCRC患者的一个子集中的疗效.

主要方法:

对161名MSS结肠直肠癌患者的回顾性队列分析.
收集和分析了TMB和感兴趣的突变的下一代测序 (NGS) 数据.
对接受ICI治疗的患者进行了生存分析和描述性亚群分析.

主要成果:

在MSSCRC中高的TMB显示出更糟糕的生存趋势 (HR=1.38,P=0.28),但没有统计学意义.
KRAS (HR=1.71,P=0.04) 和CDKN2A (HR=4.45,P<0.001) 突变与更糟糕的存活率显著相关.
在接受ICI治疗的12名高TMB MSS CRC患者中,有3人表现出长期无进展生存 (PFS),而9人表现出较短的PFS.

结论:

高TMB不是MSS结直肠癌的统计学上显著的预后标记.
KRAS和CDKN2A突变与MSSCRC的预后较差有关.
虽然一些高TMB的MSSCRC患者对ICI有反应,但需要进一步研究来确定ICI治疗的预测生物标志物.

关键词:

大肠直肠癌 (CRC) 是一种癌症.免疫疗法免疫疗法下一代测序 (NGS) 是指下一代的测序.瘤突变负担 (TMB) 是指瘤突变负担.

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