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下一代测序的忠实性,以预测人类表皮生长因子2在固体瘤中的过度表达

Mya Tran¹, Christopher A Fausel¹, Steven Bray²

¹Department of Pharmacy, Indiana University Melvin and Bren Simon Comprehensive Cancer Center, Indianapolis, IN.

JCO precision oncology

|July 1, 2025

概括

下一代测序 (NGS) 单独可能会错过人类表皮生长因子2 (HER2) 的阳性. 将NGS与免疫组织化学 (IHC) 和/或现场杂交 (ISH) 结合起来,对于在固体瘤中准确评估HER2至关重要.

科学领域:

在瘤学瘤学.
分子诊断学分子诊断
基因组学就是基因组学.

背景情况:

人类表皮生长因子2 (HER2 / ERBB2) 是一个泛瘤点,用于治疗,如trastuzumab deruxtecan.
通常通过免疫组织化学 (IHC) 和/或现场杂交 (ISH) 来评估HER2阳性,因为过度表达通常来自基因放大.
在非乳腺/胃食道固体瘤中,对HER2过度表达的最佳IHC评分还不清楚,这引发了对下一代测序 (NGS) 等替代方法的兴趣.

研究的目的:

评估NGS检测到的HER2放大和HER2过度表达 (IHC/ISH) 在多样化的固体瘤队列之间的一致性.
评估NGS在预测HER2阳性对向治疗选择的有用性.

主要方法:

将HER2 IHC/ISH结果与来自NGS的HER2放大状态进行比较.
分析了1009名患有固体瘤的患者的数据,这些患者被指派到精确基因组学计划 (2021年9月 - 2024年10月).

主要成果:

在4.3%的病例中发现了HER2 3+ IHC;5.1%是HER2阳性 (包括2+/ISH+).
在HER2 3+ IHC的20.9%和HER2 2+/ISH+病例的75.0%中,NGS未能检测到HER2放大.
不一致率因NGS平台和样本类型而异,液态NGS显示最高 (80.3%),相同样本测试最低 (26.7%).

结论:

仅仅依靠NGS进行HER2放大可能导致遗漏的HER2阳性病例,可能会拒绝患者获得关键的抗HER2疗法.
应使用NGS,IHC和ISH作为补充诊断工具,以全面检测HER2阳性.
综合测试策略对于最大限度地提高患者在固体瘤中获得HER2向治疗的资格至关重要.

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