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BRCA1/2 基因突变携带者的保乳手术:中期分析及文献综述

Nipple-sparing mastectomy in BRCA1/2 mutation carriers: an interim analysis and review of the literature.

作者信息

Yao Katharine, Liederbach Erik, Tang Rong, Lei Lan, Czechura Tomasz, Sisco Mark, Howard Michael, Hulick Peter J, Weissman Scott, Winchester David J, Coopey Suzanne B, Smith Barbara L

机构信息

Department of Surgery, Evanston Hospital, NorthShore University HealthSystem, Evanston, IL, USA,

出版信息

Ann Surg Oncol. 2015 Feb;22(2):370-6. doi: 10.1245/s10434-014-3883-3. Epub 2014 Jul 15.

Abstract

BACKGROUND

There are few large-scale studies that have examined outcomes for BRCA1/2 carriers who have undergone nipple-sparing mastectomy (NSM). The objective of our study was to examine incidental cancers, operative complications, and locoregional recurrences in BRCA1/2 mutation carriers who underwent NSM for both risk reduction and cancer treatment.

METHODS

This was a retrospective review of pathology results and outcomes of 201 BRCA1/2 carriers from two different institutions who underwent NSM from 2007 to 2014.

RESULTS

NSM was performed in 397 breasts of 201 BRCA1/2 carriers. One hundred and twenty-five (62.2 %) patients had a BRCA1 mutation and 76 (37.8 %) had a BRCA2 mutation; 150 (74.6 %) patients underwent NSM for risk reduction and 51 (25.4 %) for cancer. Incidental cancers were found in four (2.7 %) of the 150 risk-reduction patients and two (3.9 %) of the 51 cancer patients. The nipple-areolar complex (NAC) was involved with cancer in three (5.8 %) patients. No prophylactic mastectomy had a positive NAC margin. There was loss of the NAC in seven breasts (1.8 %) and flap necrosis in ten (2.5 %) breasts. With a mean follow-up of 32.6 months (1-76 months), there have been four cancer events-three in cancer patients and one in a risk-reduction patient but none at the NAC.

CONCLUSION

NSM in BRCA1/2 carriers is associated with a low rate of complications and locoregional recurrence but these patients require long-term follow-up in both the cancer and risk-reduction setting.

摘要

背景

很少有大规模研究探讨接受保乳全乳切除术(NSM)的BRCA1/2基因携带者的预后情况。我们研究的目的是调查因降低风险和癌症治疗而接受NSM的BRCA1/2基因突变携带者的偶发癌、手术并发症和局部区域复发情况。

方法

这是一项对来自两个不同机构的201名BRCA1/2基因携带者的病理结果和预后情况进行的回顾性研究,这些患者在2007年至2014年期间接受了NSM。

结果

201名BRCA1/2基因携带者的397个乳房接受了NSM。125名(62.2%)患者携带BRCA1基因突变,76名(37.8%)携带BRCA2基因突变;150名(74.6%)患者接受NSM以降低风险,51名(25.4%)患者接受NSM是为了治疗癌症。在150名因降低风险而接受手术的患者中,有4名(2.7%)发现了偶发癌,在51名癌症患者中有2名(3.9%)发现了偶发癌。乳晕复合体(NAC)有癌症累及的患者有3名(5.8%)。预防性乳房切除术的NAC切缘均为阴性。7个乳房(1.8%)出现了NAC缺失,10个乳房(2.5%)出现了皮瓣坏死。平均随访32.6个月(1 - 76个月),发生了4起癌症事件——3起发生在癌症患者中,1起发生在因降低风险而接受手术的患者中,但NAC均未出现癌症事件。

结论

BRCA1/2基因携带者接受NSM手术的并发症和局部区域复发率较低,但这些患者在癌症治疗和降低风险方面都需要长期随访。

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