Wild Peter J, Denkert Carsten, Jackisch C
Dr. Senckenbergisches Institut für Pathologie, Universitätsklinikum Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt am Main, Deutschland.
Institut für Pathologie, Universitätsklinikum Gießen-Marburg, Standort Marburg, Baldingerstraße, 35033, Marburg, Deutschland.
Pathologie (Heidelb). 2022 Sep;43(5):388-398. doi: 10.1007/s00292-022-01096-y. Epub 2022 Aug 15.
With an increasing number of targeted therapy options for the treatment of solid tumors, the demands on predictive molecular diagnostics for pathology are growing. In breast cancer the need to determine genomic predictive markers for available targeted therapies has so far been manageable (detection of PIK3CA mutations in endocrine pretreated luminal tumors and the search for NTRK fusions indicated only in secretory breast cancer). At the latest in cases of nonresponse to first-line or second-line standard treatment, more comprehensive diagnostics using next generation sequencing (NGS) panel diagnostics makes sense. This should be suitable for clarifying resistance mechanisms, e.g. against endocrine therapy or cyclin-dependent kinase 4/cyclin-dependent kinase 6 (CDK4/6) inhibitors and to identify indications for therapies currently in development. The interpretation should be carried out in a quality assured manner in accordance with international standards and the interdisciplinary tumor board should make a transparent and standardized report available in a timely manner.
随着实体瘤治疗中靶向治疗选择的不断增加，对病理学预测分子诊断的需求也在增长。在乳腺癌中，确定现有靶向治疗的基因组预测标志物的需求目前尚可应对（在内分泌预处理的管腔型肿瘤中检测PIK3CA突变，以及仅在分泌性乳腺癌中寻找NTRK融合）。至少在对一线或二线标准治疗无反应的情况下，使用下一代测序（NGS）面板诊断进行更全面的诊断是有意义的。这应适用于阐明耐药机制，例如针对内分泌治疗或细胞周期蛋白依赖性激酶4/细胞周期蛋白依赖性激酶6（CDK4/6）抑制剂的耐药机制，并确定目前正在研发的治疗的适应症。解释应按照国际标准以质量保证的方式进行，跨学科肿瘤委员会应及时提供透明且标准化的报告。
