Institute of Pathology Nordhessen, Germaniastr. 7, 34119, Kassel, Germany.
Targos Molecular Pathology GmbH, Germaniastr. 7, 34119, Kassel, Germany.
Pathologe. 2021 Nov;42(Suppl 1):62-68. doi: 10.1007/s00292-020-00878-6. Epub 2020 Dec 21.
A prerequisite for all HER2 directed therapies is the demonstration of HER2 receptor protein overexpression and/or gene amplification by in situ hybridization (ISH). ASCO and CAP have published several HER2 test guidelines over the past 15 years for both breast and gastric cancer. The latest version for breast cancer (2018) focuses on special issues of ISH related to the definitions of special diagnostic groups (1-5). The guidelines for gastroesophageal adenocarcinoma (2017), essentially based on ToGA trial data, are now also being used for other tumors such as pancreas, gallbladder, and non-small-cell lung cancer. For colorectal cancer, a modified testing procedure has been proposed. Recently, besides overexpression and amplification, a third type of HER gene alteration, namely mutation, has gained much interest. Next-generation sequencing (NGS) allows detection of both amplification and mutation of the HER2 gene providing new options of therapy especially in the case of activating mutations.
所有针对 HER2 的治疗方法的前提是通过原位杂交 (ISH) 证明 HER2 受体蛋白过表达和/或基因扩增。过去 15 年来，ASCO 和 CAP 发布了多项针对乳腺癌和胃癌的 HER2 检测指南。最新版的乳腺癌指南（2018 年）侧重于与特殊诊断组（1-5）定义相关的 ISH 特殊问题。基于 ToGA 试验数据的胃食管腺癌指南（2017 年）现在也被用于其他肿瘤，如胰腺、胆囊和非小细胞肺癌。对于结直肠癌，提出了一种改良的检测程序。最近，除了过表达和扩增之外，HER 基因的第三种改变类型，即突变，也引起了广泛关注。下一代测序 (NGS) 可检测 HER2 基因的扩增和突变，为治疗提供了新的选择，尤其是在存在激活突变的情况下。
