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通过下一代测序对实体瘤进行分子分析:来自临床实验室的经验

Pratibha Bhai^1,2, Jacob Turowec^1,2, Stephanie Santos^1,3

¹Molecular Genetics Laboratory, London Health Sciences Centre, London, ON, Canada.

Frontiers in oncology

|July 24, 2023

概括

下一代测序 (NGS) 试验有效地识别了固体瘤中临床相关的遗传变异. 这项研究显示了高的诊断产量,支持NGS整合以改善癌症诊断和治疗.

科学领域:

在瘤学瘤学.
基因组学就是基因组学.
分子诊断学分子诊断

背景情况:

个性化向治疗对于固体瘤管理至关重要.
准确检测瘤中的遗传变异对于实施向治疗至关重要.
针对性下一代测序 (NGS) 试验是固体瘤中精确分子测试的宝贵工具.

研究的目的:

评估在固体瘤中针对性NGS试验的技术验证和诊断产量.
分析在大量固体瘤样本中发现的遗传变异的频谱.
评估将基于NGS的基因组查整合到标准临床诊断中的可行性.

主要方法:

验证了Ion AmpliseqTM癌症热点面板v2试验,针对50个基因中的2800个突变.
在两年内测试了3,164个固体瘤DNA样本.
利用了500个样本的综合面板和肺癌,结肠癌,黑色素瘤和脑癌的瘤特定子面板.

主要成果:

在3,164个样本中,有2,016个 (63.7%) 显示至少有一个临床相关的变异.
在综合面板测试中,TP53,KRAS和PIK3CA是最常发生突变的基因.
在各种瘤类型中观察到高的诊断产量,包括结直肠 (77.6%) 和胰腺 (84.6%).

结论:

基于NGS的基因面板查可用于标准的固体瘤评估.
通过NGS测试实现的高诊断率可以显著影响患者的诊断,预后和临床管理.
整合NGS有助于改善瘤学中的个性化医疗方法.

关键词:

没有NGS,没有NGS.结肠癌是什么意思结肠癌是什么意思肺癌是一种肺癌.黑色素瘤是一种黑色素瘤.固体瘤是一个固体瘤.

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