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双侧乳房切除术治疗后的高遗传风险乳腺癌患者中 BRCA1/2 携带者与非携带者的对侧乳腺癌和肿瘤复发。

Contralateral breast cancer and tumor recurrence in BRCA1/2 carriers and non-carriers at a high risk of hereditary breast cancer after bilateral mastectomy.

机构信息

Unidad de Mama, Hospital Clínico Universitario Lozano Blesa, Zaragoza, España.

Servicio de Cirugía General, Hospital Clínico Universitario Lozano Blesa, Zaragoza, España.

出版信息

Cir Esp (Engl Ed). 2020 Dec;98(10):612-617. doi: 10.1016/j.ciresp.2020.04.008. Epub 2020 Jun 3.

Abstract

INTRODUCTION

Contralateral prophylactic mastectomy (CPM) has been reported to reduce risk of contralateral breast cancer (CBC) by at least 90%.In addition, BRCA carriers presents higher risk of ipsilateral recurrence and a second primary tumor. The aim is to evaluate risk of CBC and recurrence and to analyze predictive factors in BRCA1/2 mutation carriers and non-carriers at high-risk of hereditary breast cancer patients.

METHODS

Retrospective observational study. 46 patients underwent bilateral mastectomy during 2004-2018.

RESULTS

Cohort comprised 9 patients BRCA1,12 BRCA2 and 25 at high-risk without mutation. Median follow-up 79 months. 16 patients recently diagnosed and 30 previously treated by breast cancer whom underwent CPM at second time (because of later detection of BRCA mutation in 10 cases). The external lateral incision was most frequent surgical technique. In all patients immediate reconstruction was performed. In CPM pieces, 4 in situ carcinoma, 3 invasive and 1 atypical hyperplasia were found. The incidence of occult contralateral cancer was 15.2%. Recurrence was observed in 5 patients a media of 21.2 months after surgery. FSD was 83.74 months and OS 84.33 months. Regression models identified BRCA1/2 mutation and high risk without mutation as significant occult tumor predictive factors while tumor size≥2cm was predictive of recurrence.

CONCLUSIONS

In our series we found a10.8% recurrence despite CPM and 7 patients (15.2%) would have developed a CBC in subsequent years.

摘要

引言

对侧预防性乳房切除术(CPM)可将对侧乳腺癌(CBC)的风险降低至少 90%。此外,BRCA 携带者同侧复发和第二原发肿瘤的风险更高。目的是评估 BRCA1/2 突变携带者和高遗传风险非携带者的 CBC 和复发风险,并分析其预测因素。

方法

回顾性观察性研究。2004 年至 2018 年间,46 例患者接受了双侧乳房切除术。

结果

队列包括 9 例 BRCA1、12 例 BRCA2 和 25 例无突变的高危患者。中位随访时间为 79 个月。16 例为近期诊断,30 例为既往乳腺癌患者,因 10 例 BRCA 突变后第二次行 CPM(CPM)。最常见的手术技术是外侧外部切口。所有患者均立即进行了重建。在 CPM 标本中,发现 4 例原位癌、3 例浸润性癌和 1 例不典型增生。隐匿性对侧癌的发生率为 15.2%。术后 5 例患者出现复发,平均时间为 21.2 个月。FSD 为 83.74 个月,OS 为 84.33 个月。回归模型确定 BRCA1/2 突变和高风险无突变是隐匿性肿瘤的显著预测因素,而肿瘤大小≥2cm 是复发的预测因素。

结论

尽管我们进行了 CPM,但在我们的研究中仍有 10.8%的患者出现复发,在随后的几年中,7 例患者(15.2%)会发生 CBC。

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