50例中国男性乳腺癌临床特征和遗传学病因

目的拟通过男性乳腺癌(MBC)病例报道,为中国MBC的精准诊疗提供了依据。方法回顾了2015年至2019年北京市两家肿瘤专科医院收治的50例MBC患者的人口学特征、临床和病理特征、治疗及随访情况。进一步对于其中25例MBC患者进行了乳腺癌易感基因1号和2号(BRCA1/2)等基因的二代测序。结果入组MBC患者平均发病年龄为(58±11.5)岁,超重和肥胖患者占60.00%,绝大部分MBC患者为雄激素受体阳性(95.24%)和雌激素受体阳性(89.36%),而三阴性乳腺癌比例(10.64%)较国外更高。在治疗方面,保乳术(6.12%)和前哨淋巴结活检(26.53%)比例相对较低,内分泌治疗(84.00%)在术后辅助治疗中占重要地位,但术后辅助放疗(20.00%)和化疗(52.00%)相对不足。此外,在接受基因检测患者中有2例(8.00%)患者存在BRCA1/2致病性突变。结论 MBC患者的临床特征和遗传学病因具有一定特殊性。在治疗方面,手术方式可以进一步做"减法",而术后辅助放疗和化疗则应作"加法"。

Clinical characteristics and genetic etiology of 50 cases of Chinese male breast cancer

Objective To review the clinical feature,current treatment,and genetic etiology of Chinese male breast cancer(MBC)patients through MBC case series.Methods This article reviewed the demographic characteristics,clinical and pathological features,treatment and follow-up outcomes of 50 MBC patients who were hospitalized in two cancer hospitals in Beijing from 2015 to 2019.Furthermore,the panel-based next-generation sequencing was performed on 25 of the MBC patients to identify the genetic etiology.Results In this study,the average age at onset of MBC patients was 58.26±11.54 years.Overweight and obesity patients accounted for 60.00%.Most MBC patients were androgen-receptor-positive(95.24%)and estrogen-receptor-positive(89.36%),while the proportionof triple-negative breast cancer(10.64%)was higher than that found in Caucasians.However,the ratio of breast-conserving surgery(6.12%)and sentinel lymph node biopsy(26.53%)was relatively low.Although endocrine therapy(84.00%)played an important role in most MBC patients'adjuvant therapy,adjuvant radiotherapy(20.00%)and chemotherapy(52.00%)is inadequate.Furthermore,two patients(8.00%)receiving the genetic test had pathogenic mutations BRCA1/2 genes.Conclusions The clinical characteristics and genetic etiology of Chinese MBC patients have shown significant specificities which suggests that for Chinese MBC patients less surgical operation and more adjuvant radiotherapy as well as chemotherapy seems to be a smart choice.