在DNA的基因组变化不匹配修复基因跨不同的癌症类型的基因变化
Vijaykumar R Holla1, Michael P Kahle1, Sun-Hee Kim1
1Sheikh Khalifa Bin Zayed Al Nahyan Institute for Personalized Cancer Therapy, Houston, TX.
JCO precision oncology
|November 22, 2024
概括
下一代测序 (NGS) 可以识别固体瘤中的不匹配修复 (MMR) 基因突变,表明MMR蛋白质损失的可能性. 这支持使用NGS指导dMMR患者的免疫组织化学 (IHC) 测试.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 癌症生物标志物 癌症生物标志物
背景情况:
- 不匹配修复缺陷 (dMMR) 固体瘤对PD-1抑制有反应.
- 对于dMMR,免疫组织化学 (IHC) 并不是普遍适用的.
- 基因组改变的下一代测序 (NGS) 是常见的.
研究的目的:
- 为了确定NGS是否可以识别具有不匹配修复 (MMR) 基因变异的患者.
- 评估NGS识别的MMR基因突变与由IHC引起的MMR蛋白质损失之间的相关性.
- 为了支持dMMR识别的NGS后的反射IHC测试.
主要方法:
- 对15701名实体瘤患者进行NGS对MMR基因进行分析 (2016-2021).
- 对4994名患者的NGS结果与IHC数据进行比较.
- 评估突变类型和瘤分布.
主要成果:
- 在各种瘤类型的4.4%的患者中发现了MMR基因突变.
- 33.8%的MMR突变患者通过IHC显示MMR蛋白质损失,而没有突变的患者为4.4%.
- 根据特定的MMR基因突变类型,IHC损失有所不同.
结论:
- NGS可以在缺乏常规IHC的各种瘤类型中检测到MMR基因突变.
- 在NGS后的反射IHC测试可能会增加针对性治疗的dMMR患者鉴定.
- 专门的IHC查对于全面的dMMR检测至关重要.
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