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多灶性或多中心性疾病对携带或不携带BRCA1/2基因变异的乳腺癌患者局部复发和生存的影响。

Impact of multifocal or multicentric disease on local recurrence and survival in breast cancer patients with or without BRCA1/2 variants.

作者信息

Liu Xuejing, Wang Yanjie, Cao Kun, Yao Lu, Hu Li, Sun Jie, Zhang Juan, Xu Ye, Xie Yuntao

机构信息

Familial & Hereditary Cancer Center, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing), Peking University Cancer Hospital & Institute, Beijing, 100142, China.

Department of Ultrasound, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing), Peking University Cancer Hospital & Institute, Beijing, 100142, China.

出版信息

Breast Cancer Res Treat. 2023 May;199(1):25-33. doi: 10.1007/s10549-023-06904-4. Epub 2023 Mar 17.

Abstract

PURPOSE

Multifocal or multicentric (MFMC) breast cancer is mainly focused on breast cancer patients with unknown BRCA status, the incidence and clinical relevance of MFMC disease in BRCA1/2 carriers is less explored to date. Our study was to investigate the incidence of MFMC disease in BRCA1/2 carriers and whether MFMC disease influences local recurrence and clinical outcomes.

METHODS

In this retrospective study, 479 breast cancer patients with BRCA1/2 variants and 1437 age-matched noncarriers were enrolled and patients received either breast-conserving therapy (BCT) or mastectomy with or without radiotherapy.

RESULTS

The rates of MFMC disease in BRCA1 and BRCA2 carriers, and noncarriers were 33.0% (61 of 185), 37.4% (110 of 294), and 31.2% (449 of 1437), respectively. MFMC disease in BRCA2 carriers was significantly higher than that in noncarriers (P = 0.039). After a median follow-up of 8.1 years, among patients treated with BCT, BRCA2 carriers with MFMC disease experienced a significantly higher rate of ipsilateral breast tumor recurrence (IBTR) than those with unifocal disease (16.7% vs 4.1%, P = 0.044). Moreover, BRCA2 carriers with MFMC disease had a significantly worse RFS (unadjusted hazard ratio [HR], 3.65 [95% CI 1.40-9.52]; P = 0.008), DRFS (unadjusted HR, 3.07 [95% CI 1.07-8.80]; P = 0.037), and OS (unadjusted HR, 4.96 [95% CI 1.18-20.02]; P = 0.029) than those with unifocal disease when treated with BCT.

CONCLUSION

MFMC breast cancer is more common in BRCA2 carriers, and BRCA2 carriers with MFMC disease treated with BCT exhibit a higher rate of IBTR and may have a poor survival.

摘要

目的

多灶性或多中心性(MFMC)乳腺癌主要关注BRCA状态不明的乳腺癌患者,迄今为止,BRCA1/2携带者中MFMC疾病的发病率及临床相关性研究较少。我们的研究旨在调查BRCA1/2携带者中MFMC疾病的发病率,以及MFMC疾病是否会影响局部复发和临床结局。

方法

在这项回顾性研究中,纳入了479例携带BRCA1/2基因变异的乳腺癌患者和1437例年龄匹配的非携带者,患者接受了保乳治疗(BCT)或乳房切除术(伴或不伴放疗)。

结果

BRCA1携带者、BRCA2携带者和非携带者中MFMC疾病的发生率分别为33.0%(185例中的61例)、37.4%(294例中的110例)和31.2%(1437例中的449例)。BRCA2携带者中的MFMC疾病发生率显著高于非携带者(P = 0.039)。中位随访8.1年后,在接受BCT治疗的患者中,患有MFMC疾病的BRCA2携带者同侧乳腺肿瘤复发(IBTR)率显著高于单灶性疾病患者(16.7%对4.1%,P = 0.044)。此外,接受BCT治疗时,患有MFMC疾病的BRCA2携带者的无复发生存期(RFS)(未调整风险比[HR],3.65[95%CI 1.40 - 9.52];P = 0.008)、远处无复发生存期(DRFS)(未调整HR,3.07[95%CI 1.07 - 8.80];P = 0.037)和总生存期(OS)(未调整HR,4.96[95%CI 1.18 - 20.02];P = 0.029)均显著差于单灶性疾病患者。

结论

MFMC乳腺癌在BRCA2携带者中更为常见,接受BCT治疗的患有MFMC疾病的BRCA2携带者表现出更高的IBTR率,且生存可能较差。

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