Chen Xi, Qian Xiaoyan, Xiao Min, Zhang Pin
Department of Medical Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China.
Breast Cancer (Dove Med Press). 2023 Sep 4;15:671-682. doi: 10.2147/BCTT.S423330. eCollection 2023.
The study aimed to compare the survival outcomes and efficacy of platinum in early breast cancer patients with BRCA1 and BRCA2 mutations.
Patients diagnosed with stage I-III breast cancer and carrying germline pathogenic/likely pathogenic BRCA mutations in three medical institutions in China from April 2016 to January 2021 were retrospectively analyzed. Data on clinical and pathological characteristics, treatment information, pathogenic variants of BRCA, and survival outcomes were collected for all eligible patients.
One hundred and sixty-nine patients with BRCA mutations were enrolled, including BRCA1 mutation (53.3%, n = 90) and BRCA2 mutation (46.7%, n = 79). The median age was 39 years, and most patients (68.1%, n = 115) were stage I-II. Patients with BRCA1 mutations were characterized by histological grade III (55.6%) and higher Ki-67 index (Ki-67 ≥ 30%, 78.9%) compared with patients with BRCA2 mutations (27.8%, 58.2%). BRCA1 mutation patients accounted for a significantly higher proportion of triple negative breast cancer than BRCA2 mutation patients (71.1% vs 19.0%, P < 0.0001). A total of 142 (84.0%) patients received neo/adjuvant chemotherapy, including anthracycline and/or taxane-based regimens (55.6%) or platinum-based regimens (27.2%). Median follow-up was 33.2 months. Three-year DFS (disease-free survival) and DRFS (distant recurrence-free survival) had no significant differences between patients with BRCA1 and BRCA2 mutations (82.0% vs 85.4%, P = 0.35; 94.3% vs 94.6%, P = 0.39). The 3-year DFS rate in BRCA1 mutation cohort of patients received platinum regimen was significantly higher than patients received non-platinum regimen (96.0% vs 75.2%, P = 0.01). No differences between DFS and DRFS were observed in patients with BRCA2 mutation received platinum regimen and non-platinum regimen.
Similar survival outcomes were observed in early breast cancer patients with BRCA1 and BRCA2 mutation, though they had different biological characteristics. Patients with BRCA1 mutations are more benefit from platinum-regimen. The value of platinum-regimen for early breast cancer patients with BRCA1 and BRCA2 needs to be verified further.
本研究旨在比较携带BRCA1和BRCA2突变的早期乳腺癌患者的生存结局及铂类药物的疗效。
对2016年4月至2021年1月在中国三家医疗机构诊断为I-III期乳腺癌且携带胚系致病性/可能致病性BRCA突变的患者进行回顾性分析。收集所有符合条件患者的临床和病理特征、治疗信息、BRCA的致病变异及生存结局数据。
共纳入169例BRCA突变患者，其中BRCA1突变患者90例（53.3%），BRCA2突变患者79例（46.7%）。中位年龄为39岁，大多数患者（68.1%，n = 115）为I-II期。与BRCA2突变患者（27.8%，58.2%）相比，BRCA1突变患者的组织学分级为III级（55.6%）且Ki-67指数更高（Ki-67≥30%，78.9%）。BRCA1突变患者中三阴性乳腺癌的比例显著高于BRCA2突变患者（71.1%对19.0%，P<0.0001）。共有142例（84.0%）患者接受了新辅助/辅助化疗，包括基于蒽环类和/或紫杉类的方案（55.6%）或基于铂类的方案（27.2%）。中位随访时间为33.2个月。BRCA1和BRCA2突变患者的3年无病生存期（DFS）和远处无复发生存期（DRFS）无显著差异（82.0%对85.4%，P = 0.35；94.3%对94.6%，P = 0.39）。接受铂类方案的BRCA1突变队列患者的3年DFS率显著高于接受非铂类方案的患者（96.0%对75.2%，P = 0.01）。接受铂类方案和非铂类方案的BRCA2突变患者在DFS和DRFS方面未观察到差异。
携带BRCA1和BRCA2突变的早期乳腺癌患者虽生物学特征不同，但生存结局相似。BRCA1突变患者从铂类方案中获益更多。铂类方案对携带BRCA1和BRCA2突变的早期乳腺癌患者的价值有待进一步验证。
