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在乳腺癌中通过针对性下一代测序进行HER2/ERBB2复制数分析

Daniel Xia¹, Frank Kuo², Melissa Hughes³

¹Department of Pathology, University Health Network, Toronto,Canada.

American journal of clinical pathology

|December 17, 2023

概括

下一代测序 (NGS) 拷贝数数据准确地预测乳腺癌中的HER2状态. 这种NGS评估表明,在临床环境中确定HER2阳性具有潜在的实用性.

科学领域:

在瘤学瘤学.
遗传学是一个遗传学.
分子诊断学分子诊断

背景情况:

免疫组织化学 (IHC) 和光 in situ 杂交 (FISH) 是乳腺癌中HER2评估的标准.
准确的HER2状态对于指导向治疗决策至关重要.

研究的目的:

为了研究下一代测序 (NGS) 衍生HER2/ERBB2复制号 (CN) 数据的临床实用性.
根据ASCO/CAP指南,评估NGS能够预测HER2状态的能力.

主要方法:

对294种本地复发性和转移性乳腺癌的分析,这些乳腺癌先前通过NGS和HER2 IHC/FISH进行了测试.
专注于ERBB2中位数log2比率和来自NGS的基因组坐标.
确定一个严格的log2比率截止值,以预测HER2阳性状态,具有100%的特异性.

主要成果:

NGS ERBB2 中位数log2比率与HER2状态有很强的相关性 (AUC = 0.951).
一个ERBB2log2比率>1.7表明HER2-阳性结果100%的特异性.
来自NGS的基因组坐标也预测了HER2状态.

结论:

NGS复制数数据与乳腺癌中的HER2状态有很强的相关性.
一个严格的ERBB2log2比率切断值准确地预测HER2阳性,具有高特异性.
在特定的临床场景中,NGS CN评估可能对确定HER2状态有价值.

关键词:

在ERBB2中,它是ERBB2.鱼类鱼类是一种鱼类.在HER2中,HER2是HER2.乳腺癌乳腺癌乳腺癌副本编号副本编号免疫组织化学免疫组织化学这是下一代测序.

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