Department of Gynaecology and Obstetrics, University Hospitals Leuven, KU Leuven, University of Leuven, Herestraat 49, 3000, Louvain, Belgium.
Department of Oncology, University Hospitals Leuven, KU Leuven, University of Leuven, 3000, Louvain, Belgium.
Clin Drug Investig. 2018 Nov;38(11):1071-1075. doi: 10.1007/s40261-018-0696-3.
We present the case of a postmenopausal patient with a secondary metastatic ER-positive, HER2-negative breast cancer who was successfully treated with fulvestrant and alpelisib following six lines of therapy. The tumour showed two uncommon PIK3CA mutations, and with the combination of alpelisib and fulvestrant the patient went from ECOG grade 3, before the start of this therapy, to ECOG grade 1 during treatment until progressive disease after 6 months. This unexpected benefit emphasizes the importance of performing a Next Generation Sequencing (NGS)-based assay to screen for several cancer genes in the metastatic setting, even after more than four lines of therapy and a high ECOG grade. Moreover, the use of alpelisib may be beneficial for uncommon PIK3CA mutations.
我们报告了一例绝经后患者，其继发转移性 ER 阳性、HER2 阴性乳腺癌在经过六线治疗后，成功地接受了氟维司群和阿培利司的治疗。肿瘤显示出两种不常见的 PIK3CA 突变，并且在阿培利司和氟维司群联合治疗下，患者从开始治疗前的 ECOG 评分 3 级，改善到治疗期间的 ECOG 评分 1 级，直到 6 个月后疾病进展。这种意外的获益强调了在转移性疾病中进行基于下一代测序（NGS）的检测以筛选多种癌症基因的重要性，即使在四线以上治疗和高 ECOG 评分后也是如此。此外，阿培利司的使用可能对不常见的 PIK3CA 突变有益。
