在固体瘤中HER2蛋白过度表达,mRNA表达和DNA放大:基于下一代测序的测试与免疫组织化学的比较
Michiko Nagamine1, Takao Fujisawa2,3, Naoya Sakamoto1,4
1Department of Pathology and Clinical Laboratories, National Cancer Center Hospital East, Kashiwa, Japan.
JCO precision oncology
|January 21, 2026
概括
下一代测序 (NGS) 试验显示,对于人类表皮生长因子受体2 (HER2) 测试,与免疫组织化学 (IHC) 有很好的一致性. 然而,内异质性可能会导致结果不一致,影响精确瘤学.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 生物标志物发现发现
背景情况:
- 无瘤的方法在精密瘤学中越来越受欢迎.
- 免疫组织化学 (IHC) 是人类表皮生长因子受体2 (HER2) 向治疗的标准,而下一代测序 (NGS) 则越来越多地使用.
- 调查NGS和IHC之间对HER2测试的一致性至关重要.
研究的目的:
- 为了评估基于NGS的测试 (整个外因子组测序和整个转录组测序) 和HER2测试的IHC之间的一致性.
- 识别可能导致这些方法之间结果不一致的因素.
- 评估NGS在瘤无定性HER2测试中的实用性.
主要方法:
- 分析了来自美国和日本队伍的超过78,000个固体瘤.
- 评估HER2DNA拷贝数,mRNA表达和蛋白质过度表达,使用全外因子测序 (WES),全转录组测序 (WTS) 和IHC.
- 对NGS测定和IHC测定之间的结果进行比较,重点关注一致性和不一致性.
主要成果:
- HER2 DNA放大,mRNA过度表达和IHC阳性显示出一般一致性,但根据瘤类型而异.
- 全转录组测序 (WTS) 显示出比全外体组测序 (WES) 更高的灵敏度,但与IHC相比,积极预测值较低.
- 鉴定出IHC阳性瘤细胞的异质分布是导致结果不一致的因素.
结论:
- 基于NGS的测试,特别是WTS,显示出希望作为HER2测试在瘤不可知环境中的预测工具.
- 虽然存在一致性,但瘤类型之间的差异需要仔细解释HER2状态.
- 在临床实践中实施批量测序测试时,必须考虑HER2蛋白表达的内异质性.
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