Department of Oncology, Sun Yat-Sen University Cancer Center, The State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.
Oncol Res Treat. 2022;45(1-2):54-61. doi: 10.1159/000520453. Epub 2021 Nov 24.
The B-Raf proto-oncogene (BRAFV600E) gene mutation has been identified in a variety of malignancies, but no evidence of the efficacy of vemurafenib treatment in BRAFV600E mutant breast cancer (BC) has been reported.
We reported a 60-year-old woman with confirmed triple-negative BC with BRAFV600E mutation. Progression-free survival (PFS) for first-line chemotherapy was 7 months. The patient received vemurafenib and albumin-bound paclitaxel as second-line therapy, exhibiting regression of some pulmonary metastatic lesions with concomitant progression of other lesions, and achieved 4.4 months of PFS. Genetic testing of the progressed pulmonary lesion revealed the BRAFV600E mutation, and acquired new mutations and AR amplification. The patient ultimately died of multiple organ failure and achieved 12 months of overall survival.
The BRAFV600E mutation may be a potential prognostic factor and therapeutic target for BC.
B-Raf 原癌基因（BRAFV600E）基因突变已在多种恶性肿瘤中被发现，但尚无证据表明维莫非尼治疗 BRAFV600E 突变型乳腺癌（BC）有效。
我们报告了一例 60 岁女性，经确诊患有三阴性 BC，存在 BRAFV600E 突变。一线化疗的无进展生存期（PFS）为 7 个月。患者接受维莫非尼和白蛋白结合型紫杉醇作为二线治疗，部分肺部转移病灶缩小，同时其他病灶进展，PFS 达到 4.4 个月。进展性肺部病变的基因检测显示 BRAFV600E 突变，并出现新的突变和 AR 扩增。患者最终死于多器官衰竭，总生存期达到 12 个月。
BRAFV600E 突变可能是 BC 的一个潜在预后因素和治疗靶点。
