摘要
目的探讨人表皮生长因子受体2（human epidermal growth factor receptor-2，HER2）基因致病性体细胞突变S310F和V777L与乳腺癌预后的相关性。方法对338例连续的Ⅰ～Ⅲ期原发性乳腺癌患者进行组织标本测序．定点检测突变S310F和V777L。结果共发现S310F和V777L突变携带者12例，其中HER2阴性患者10例，HER2阳性患者2例。所有患者中位随访时间43个月，共有4例发生了局部或远处转移事件．均为HER2阴性患者。生存分析发现携带S310F和V777L突变的患者的生存率显著低于非携带患者（RFS，未校正风险比：5．89，95％CI：1．96～17．71，P〈0．001；DRFS，未校正风险比：5．53，95％CI：1．56-19．55，P=0．003），在HER2阴性患者中这种差异性更加明显（RFS，未校正风险比：8．93，95％CI：2．79-28．62，P〈0．001；DRFS，未校正风险比：9．89，95％CI：2．54-38．49，P〈0．001）。HER2基因S310F和V777L突变是乳腺癌较差预后的独立预测因素。结论携带HER2基因突变S310F、V777L的乳腺癌患者的预后显著差于非携带者，尤其在HER2阴性患者中更加明显。
Objective To assess the prognostic valuc of HER2 （human epidermal growth factor receptor-2） somatic mutations S310F and V777L in breast cancer patients. Methods HER2 somatic mutations S310F and V777L was screened in 33Z consecutive patients with operable primary breast cancer using direct Sanger sequencing analysis. Results A total of 12 carriers of HER2 gene S310F and V777L mutations were found, 10 were HER2-negative and 2 were HER2-positive . The median follow-up was 43 months （range from 1 to 61 months）. 4 were found with local or distant metastasis, and all were HER2- negative patients. Survival analysis found significantly lower survival rates in patients with S310F and V777L mutations than in non-carriers （RFS, unadjusted hazard ratio [ HR ] ： 5.89, 95 % confidence interval [ CI] ： 1.96-17.71, P〈0.001; DRFS, unadjusted HR： 5.53, 95%CI： 1.56-19.55, P=0.003） and this difference was more manifest in the HER2-negative patients （RFS, unadjusted HR： 8. 93, 95% CI： 2. 79 - 28.62, P 〈 0. 001 ; DRFS, unadjusted HR： 9. 89, 95% CI： 2. 54 - 38.49, P 〈 0. 001 ）. HER2 somatic mutations S310F and V777L are independent predictors of poor prognosis in breast cancer. Conclusion The prognosis of breast cancer patients carrying HER2 somatic mutations S310F and V777L is significantly worse than that of non-carriers, especially in HER2-negative patients.
作者
司丕蕾
陈涛
刘高秀
汪操
陈海军
张加强
李育红
韩倩
翟保平
李文涛
Si Pilei;Chen Tao;Liu Gaoxiu;Wang Cao;Chen Haijun;Zhang Jiaqiang;Li Yuhong;Han Qian;Zhai Baoping;Li Wentao(Department of Breast Surgery,Henan Provincial People＇s Hospital,Zhengzhou 450003,China)
出处
《中华普通外科杂志》
CSCD
北大核心
2018年第11期942-946,共5页
Chinese Journal of General Surgery
基金
河南省人民医院“23456”人才工程资助项目
关键词
乳腺肿瘤
受体
表皮生长因子
体细胞突变
存活率分析
Breast neoplasms
Receptor
epidermal growth factor
Somatic mutation
Survival analysis
作者简介
通信作者：李文涛，E-mail：1wt9223@163．com
