Department of Pathology, The Johns Hopkins University School of Medicine, 401 N Broadway, Weinberg 2242, Baltimore, MD 21287, USA.
Department of Pathology, The Johns Hopkins University School of Medicine, 401 N Broadway, Weinberg 2242, Baltimore, MD 21287, USA; Department of Oncology, The Johns Hopkins University School of Medicine, 401 N Broadway, Weinberg 2242, Baltimore, MD 21287, USA.
Clin Lab Med. 2023 Jun;43(2):299-321. doi: 10.1016/j.cll.2023.03.004.
Predictive biomarker testing on metastatic breast cancer is essential for determining patient eligibility for targeted therapeutics. The National Comprehensive Cancer Network currently recommends assessment of specific biomarkers on metastatic tumor subtypes, including hormone receptors, HER2, and BRCA1/2 mutations, on all newly metastatic breast cancers subtypes; programmed death-ligand 1 on metastatic triple-negative carcinomas; and PIK3CA mutation status on estrogen receptor-positive carcinomas. In select circumstances mismatch repair protein deficiency and/or microsatellite insufficiency, tumor mutation burden, and NTRK translocation status are also testing options. Novel biomarker testing, such as detecting PIK3CA mutations in circulating tumor DNA, is expanding in this rapidly evolving arena.
转移性乳腺癌的预测性生物标志物检测对于确定患者是否有资格接受靶向治疗至关重要。美国国家综合癌症网络目前建议对所有新发生的转移性乳腺癌亚型进行特定生物标志物的评估，包括激素受体、HER2 和 BRCA1/2 突变；对转移性三阴性乳腺癌进行程序性死亡配体 1 检测；对雌激素受体阳性的乳腺癌进行 PIK3CA 突变状态检测。在特定情况下，还可以选择检测错配修复蛋白缺失和/或微卫星不稳定性、肿瘤突变负担和 NTRK 易位状态。在这个快速发展的领域，新的生物标志物检测，如检测循环肿瘤 DNA 中的 PIK3CA 突变，正在不断扩展。
