Breast Unit, IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089, Rozzano, Milan, Italy.
Medical Oncology and Hematology Unit, IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089, Rozzano, Milan, Italy.
Eur J Surg Oncol. 2022 Aug;48(8):1706-1712. doi: 10.1016/j.ejso.2022.04.024. Epub 2022 Apr 30.
The optimal surgical management of BRCA-mutation carriers remains a subject of debate. To evaluate the appropriateness of breast cancer (BC) treatment, the oncological outcomes of BRCA-mutation carriers treated either with breast-conserving therapy (BCT) or mastectomy were compared. Additionally, the role of bilateral salpingo-oophorectomy (BSO) and potential independent predictive factors for BC treatment were analyzed.
We retrospectively reviewed all the consecutive patients with a pathogenic germline mutation in the BRCA1/2 genes tested at our Institution between July 2008 and October 2018. Primary end-points were disease-free survival (DFS), distant disease-free survival (DDFS), and overall survival (OS).
The characteristics and outcomes of 124 BRCA-associated BC patients were analyzed. Overall, 69 (55.7%) and 55 (44.3%) patients underwent BCT and mastectomy, respectively; 72 (58.1%) patients underwent BSO. After a median interval of 13.3 months, 24 patients underwent mastectomy after primary BCT. There was no significant difference in terms of DFS, DDFS, and OS between patients treated with BCT or mastectomy (p = 0.39,p = 0.27,p = 0.265, respectively). Patients treated with BSO had significantly better DDFS and OS compared to ovarian conservation (p = 0.033,p = 0.040, respectively). Three independent predictive factors for BCT were identified: age ≤41 years, genetic testing performed post-operatively, and breast tumors ≤21 mm.
Our data suggest that BRCA-mutation carriers treated with BCT present similar oncological outcomes compared to mastectomy. Ovarian preservation decreases survival. Young BRCA-mutated patients with small BCs may not need up-front mastectomy, and BSO might be performed when ovarian cancer risk epidemiologically rises and potential reproductive desire is fulfilled.
BRCA 突变携带者的最佳手术管理仍是一个有争议的话题。为了评估乳腺癌（BC）治疗的适宜性，比较了接受保乳治疗（BCT）或乳房切除术的 BRCA 突变携带者的肿瘤学结果。此外，还分析了双侧输卵管卵巢切除术（BSO）的作用以及 BC 治疗的潜在独立预测因素。
我们回顾性分析了 2008 年 7 月至 2018 年 10 月在我院接受检测的 BRCA1/2 基因种系突变的所有连续患者。主要终点是无病生存（DFS）、无远处疾病生存（DDFS）和总生存（OS）。
分析了 124 例 BRCA 相关性 BC 患者的特征和结局。总体而言，69 例（55.7%）和 55 例（44.3%）患者分别接受了 BCT 和乳房切除术，72 例（58.1%）患者接受了 BSO。在中位间隔 13.3 个月后，24 例患者在初次 BCT 后行乳房切除术。BCT 和乳房切除术治疗患者的 DFS、DDFS 和 OS 无显著差异（p=0.39，p=0.27，p=0.265）。与卵巢保留相比，接受 BSO 的患者 DDFS 和 OS 显著更好（p=0.033，p=0.040）。识别出 BCT 的三个独立预测因素：年龄≤41 岁，术后进行基因检测，肿瘤≤21mm。
我们的数据表明，接受 BCT 治疗的 BRCA 突变携带者的肿瘤学结果与乳房切除术相似。卵巢保留降低生存。具有小 BC 的年轻 BRCA 突变患者可能不需要早期乳房切除术，并且当卵巢癌风险在流行病学上增加并且潜在的生殖愿望得到满足时，可以进行 BSO。
