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携带BRCA基因变异的乳腺癌患者保乳治疗的长期肿瘤学结局

Long-Term Oncologic Outcome of Breast-Conserving Treatment in Patients With Breast Cancer With BRCA Variants.

作者信息

Lee Janghee, Ryu Jai Min, Kim Hong Kyu, Park Hyung Seok, Kang Byeongju, Ahn Sung Gwe, Chung Min Sung, Shin Seon-Hi, Go Junwon, Kim Sanghwa, Kim Eun Young, Kang Young-Joon, Min Sun Young, Lee Moohyun, Shin Eunju, Shin Jisoo, Lee Sae Byul, Cha Chihwan David

机构信息

Department of Surgery, Ewha Womans University Mokdong Hospital, Ewha Womans University College of Medicine, Seoul, Republic of Korea.

Department of Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea.

出版信息

JAMA Netw Open. 2025 May 1;8(5):e259840. doi: 10.1001/jamanetworkopen.2025.9840.

Abstract

IMPORTANCE

Patients with sporadic breast cancer have comparable prognoses after undergoing either breast-conserving treatment (BCT) or mastectomy. However, there are limited and inconsistent data on the assessment of oncologic outcomes between BCT and mastectomy in patients with pathogenic variants in BRCA1 or BRCA2.

OBJECTIVE

To investigate the outcomes of BCT on recurrence and survival in patients with breast cancer with BRCA1 or BRCA2 pathogenic variants.

DESIGN, SETTING, AND PARTICIPANTS: This retrospective multicenter cohort study analyzed patients from 13 institutions in South Korea with primary breast cancer with BRCA1 or BRCA2 pathogenic variants who underwent either BCT or mastectomy from January 2008 through December 2015. The median (IQR) follow-up period was 8.3 (6.4-9.6) years. Data were analyzed from September 2023 to August 2024.

EXPOSURE

BRCA1 or BRCA2 pathogenic variant and BCT.

MAIN OUTCOMES AND MEASURES

Primary outcomes were logoregional recurrence-free survival, distant recurrence-free survival, and overall survival. Propensity score matching (PSM) using the greedy nearest neighbor method was performed to match covariates to minimize potential selection bias.

RESULTS

A total of 575 female patients with BRCA1 or BRCA2 pathogenic variants were identified, all of whom were South Korean with a mean (SD) age of 42.0 (9.7) years. Among them, 367 patients (66.2%) received BCT and 186 (33.8%) were treated with mastectomy. BCT was not a factor associated with oncologic outcomes, including locoregional recurrence, compared with mastectomy. After adjusting for clinicopathologic characteristics through 1:1 PSM, there were still no statistically significant differences in oncologic outcomes between the BCT group and the mastectomy group. Multivariate analysis showed that the type of breast surgery was not significantly associated with oncologic outcomes. In subgroup analysis among matched patients based on BRCA1 or BRCA2 status, tumor size, lymph node metastasis, histologic grade, and subtype, BCT was also not a factor associated with risk for recurrence.

CONCLUSIONS AND RELEVANCE

The findings from this cohort study of patients with BRCA1 or BRCA2 pathogenic variants suggested that there were no significant differences in oncologic outcomes between patients who underwent BCT and those who underwent mastectomy. Therefore, breast conservation with close surveillance can be considered a viable treatment option for BRCA1 or BRCA2 pathogenic variant carriers. Further studies incorporating prospectively collected data are warranted to validate our findings.

摘要

重要性

散发性乳腺癌患者接受保乳治疗(BCT)或乳房切除术后的预后相当。然而,关于携带BRCA1或BRCA2致病基因变异的患者在BCT和乳房切除术之间肿瘤学结局评估的数据有限且不一致。

目的

研究BCT对携带BRCA1或BRCA2致病基因变异的乳腺癌患者复发和生存的影响。

设计、地点和参与者:这项回顾性多中心队列研究分析了2008年1月至2015年12月期间韩国13家机构中患有原发性乳腺癌且携带BRCA1或BRCA2致病基因变异并接受BCT或乳房切除术的患者。中位(IQR)随访期为8.3(6.4 - 9.6)年。数据于2023年9月至2024年8月进行分析。

暴露因素

BRCA1或BRCA2致病基因变异和BCT。

主要结局和测量指标

主要结局为局部区域无复发生存率、远处无复发生存率和总生存率。采用贪婪最近邻法进行倾向评分匹配(PSM)以匹配协变量,以尽量减少潜在的选择偏倚。

结果

共识别出575例携带BRCA1或BRCA2致病基因变异的女性患者,她们均为韩国人,平均(SD)年龄为42.0(9.7)岁。其中,367例患者(66.2%)接受了BCT,186例(33.8%)接受了乳房切除术。与乳房切除术相比,BCT不是与包括局部区域复发在内的肿瘤学结局相关的因素。通过1:1 PSM调整临床病理特征后,BCT组和乳房切除组在肿瘤学结局方面仍无统计学显著差异。多变量分析表明,乳房手术类型与肿瘤学结局无显著关联。在基于BRCA1或BRCA2状态、肿瘤大小、淋巴结转移、组织学分级和亚型的匹配患者亚组分析中,BCT也不是与复发风险相关的因素。

结论和相关性

这项针对携带BRCA1或BRCA2致病基因变异患者的队列研究结果表明,接受BCT的患者与接受乳房切除术的患者在肿瘤学结局方面无显著差异。因此,密切监测下的保乳治疗可被视为BRCA1或BRCA2致病基因变异携带者的一种可行治疗选择。有必要进行纳入前瞻性收集数据的进一步研究以验证我们的发现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86aa/12079291/21cf0681c3e9/jamanetwopen-e259840-g001.jpg

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