应用HER2基因表达评估HER2阳性乳腺癌的靶向治疗效果的研究进展

Research progress of HER2 gene expression in evaluating targeted therapy effect for patients with HER2-positive breast cancer

目的总结人类表皮生长因子受体2(human epidermal growth factor receptor 2,HER2)基因表达与HER2阳性乳腺癌靶向治疗效果的关系并总结HER2基因拷贝数相关研究的新进展。方法复习近年来关于HER2阳性乳腺癌与相关靶向治疗的文献并进行综述。结果HER2基因拷贝数和HER2/17号染色体着丝粒区(centromere on chromosome 17,CEP17)比值与HER2阳性乳腺癌的预后有关,且循环肿瘤DNA测序有望成为靶向治疗效果的预测指标。结论较高的H E R 2基因拷贝数可能与H E R 2阳性乳腺癌较好的预后相关,HER2/CEP17比值和循环肿瘤DNA对有效评估HER2阳性乳腺癌患者对曲妥珠单抗治疗的反应性具有一定意义。

Objective To summarize the correlation between human epidermal growth factor receptor 2(HER2)gene expression and the efficacy of targeted therapy for patients with HER2-positive breast cancer,and to summarize the new progress in the study of HER2 gene copy number.Method The relevant literatures on researches of targeted therapy effectiveness for patients with HER2-positive breast cancer were retrieved and reviewed.Results HER2 gene copy number and HER2/centromere on chromosome 17(CEP17)ratio were related to the prognosis of patients with HER2-positive breast cancer,and circulating tumor DNA sequencing was expected to be a predictive indicator of targeted therapy effectiveness.Conclusion Higher copy number of HER2 gene might be associated with a better prognosis of HER2-positive breast cancer,and HER2/CEP17 ratio and circulating tumour DNA are of some significances in evaluating treatment response of trastuzumab for patients with HER2-positive breast cancer.