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通过NGS验证HER2拷贝数变异评估:与免疫组织化学和现场杂交的比较分析

Daniele Lorenzini^1,2, Rebecca Salvatori¹, Chiara Costanza Volpi¹

¹Department of Diagnostic Innovation, Fondazione IRCCS Istituto Nazionale Dei Tumori, Milan, Italy.

|July 9, 2025

概括

基金会One®CDx准确地评估了固体瘤中的HER2 (ERBB2) 副本数变化. 这种全面的基因组分析为传统的HER2测试方法提供了可靠的替代方案.

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:

抗HER2疗法对于固体瘤至关重要,需要准确确定HER2状态.
综合基因组分析 (CGP) 面板,如FoundationOne® CDx,越来越多地用于ERBB2复制号分析.
评估CGP测定与既定方法的分析有效性对于临床采用至关重要.

研究的目的:

评估FoundationOne®CDx测试对ERBB2副本数量变化的分析有效性.
来自FoundationOne®CDx的ERBB2副本数数据与传统的HER2测试 (IHC/ISH) 的数据进行比较.
评估FoundationOne® CDx在一组多样化的固体瘤样本中的性能.

主要方法:

由FoundationOne®CDx分析的531个实体瘤病例的回顾性审查.
在68个案例中,通过免疫组织化学 (IHC) 和现场杂交 (ISH) 进行HER2状态的内部分析.
定义的NGS阳性 (ERBB2拷贝数≥4) 和IHC/ISH阳性 (3+或HER2/CEP17比率≥2) 标准.

主要成果:

基金会One®CDx发现了21个 (30.9%) NGS阳性病例.
检测HER2过度表达/放大的灵敏度为76.2% (由IHC/ISH证实16/21).
特异性为90% (45/47个NGS阴性病例被IHC/ISH证实),负预测值为95.7%.

结论:

基金会One®CDx证明了对ERBB2副本编号状态的准确评估.
与传统的IHC/ISH方法相比,该试验显示出有希望的灵敏度和特异性.
FoundationOne®CDx可能为转移性癌症患者的HER2测试提供一个具有成本效益的解决方案.

关键词:

综合性基因组分析分析在HER2中,HER2是HER2.没有NGS,没有NGS.副本数量的变化副本数量的变化精确瘤学精确瘤学

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