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BRCA1/2 基因突变携带者且有单侧乳腺癌病史者行对侧预防性乳房切除术后总生存率的改善:一项前瞻性分析。

Improved overall survival after contralateral risk-reducing mastectomy in BRCA1/2 mutation carriers with a history of unilateral breast cancer: a prospective analysis.

作者信息

Heemskerk-Gerritsen Bernadette A M, Rookus Matti A, Aalfs Cora M, Ausems Margreet G E M, Collée Johanna M, Jansen Liesbeth, Kets C Marleen, Keymeulen Kristien B M I, Koppert Linetta B, Meijers-Heijboer Hanne E J, Mooij Thea M, Tollenaar Rob A E M, Vasen Hans F A, Hooning Maartje J, Seynaeve Caroline

机构信息

Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.

出版信息

Int J Cancer. 2015 Feb 1;136(3):668-77. doi: 10.1002/ijc.29032. Epub 2014 Jul 8.

DOI:10.1002/ijc.29032
PMID:24947112
Abstract

Data on survival of BRCA1/2-associated primary breast cancer (PBC) patients who opt for subsequent contralateral risk-reducing mastectomy (CRRM) are scarce and inconsistent. We examined the efficacy of CRRM on overall survival in mutation carriers with a history of PBC. From a Dutch multicentre cohort, we selected 583 BRCA-associated PBC patients, being diagnosed between 1980 and 2011. Over time, 242 patients (42%) underwent CRRM and 341 patients (58%) remained under surveillance. Survival analyses were performed using Cox models, with CRRM as a time-dependent covariate. The median follow-up after PBC diagnosis was 11.4 years. In the CRRM group, four patients developed contralateral breast cancer (2%), against 64 patients (19%) in the surveillance group (p < 0.001). The mortality was lower in the CRRM group than in the surveillance group (9.6 and 21.6 per 1000 person-years of observation, respectively; adjusted hazard ratio 0.49, 95% confidence interval 0.29-0.82). Survival benefit was especially seen in young PBC patients (<40 years), in patients having a PBC with differentiation grade 1/2 and/or no triple-negative phenotype, and in patients not treated with adjuvant chemotherapy. We conclude that CRRM is associated with improved overall survival in BRCA1/2 mutation carriers with a history of PBC. Further research is warranted to develop a model based on age at diagnosis and tumour and treatment characteristics that can predict survival benefit for specific subgroups of patients, aiming at further personalized counselling and improved decision making.

摘要

关于选择后续对侧预防性乳房切除术(CRRM)的BRCA1/2相关原发性乳腺癌(PBC)患者生存情况的数据稀缺且不一致。我们研究了CRRM对有PBC病史的突变携带者总生存的疗效。从荷兰多中心队列中,我们选取了583例1980年至2011年间确诊的BRCA相关PBC患者。随着时间推移,242例患者(42%)接受了CRRM,341例患者(58%)仍接受监测。使用Cox模型进行生存分析,将CRRM作为时间依赖性协变量。PBC诊断后的中位随访时间为11.4年。在CRRM组中,4例患者发生对侧乳腺癌(2%),而监测组中有64例患者(19%)发生对侧乳腺癌(p<0.001)。CRRM组的死亡率低于监测组(分别为每1000人年观察期9.6例和21.6例;调整后风险比0.49, 95%置信区间0.29 - 0.82)。生存获益在年轻PBC患者(<40岁)、具有1/2级分化和/或无三阴性表型的PBC患者以及未接受辅助化疗的患者中尤为明显。我们得出结论,CRRM与有PBC病史的BRCA1/2突变携带者总生存改善相关。有必要进一步开展研究,以建立基于诊断时年龄、肿瘤及治疗特征的模型,该模型可预测特定亚组患者的生存获益,旨在进一步实现个性化咨询并改善决策。

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