HER-2基因突变在恶性实体瘤中的临床研究进展  

Progress in clinical research of HER-2 gene mutation in malignant solid tumors

作　　者：吕伟[1] 张淑群[1] 靳耀锋[2] 梁亮[1] 马兴聪 孙诗雨 LYU Wei;ZHANG Shuqun;JIN Yaofeng;LIANG Liang;MA Xingcong;SUN Shiyu(Cancer Hospital,the Second Affiliated Hospital of Xi'an Jiaotong University,Shaanxi Xi'an 710004,China;Department of Pathology,the Second Affiliated Hospital of Xi'an Jiaotong University,Shaanxi Xi'an 710004,China)

机构地区：[1]西安交通大学第二附属医院肿瘤病院,陕西西安710004 [2]西安交通大学第二附属医院病理科,陕西西安710004

出　　处：《现代肿瘤医学》2021年第23期4238-4242,共5页Journal of Modern Oncology

摘　　要：近年来,随着在分子水平上对肿瘤发生、发展研究的深入,人们对HER-2这一原癌基因在恶性实体瘤中的作用有了丰富的认识。有研究表明,与传统的HER-2基因扩增相比,某些HER-2“热点”突变在多种癌症类型中起致癌性驱动作用,且在体外和体内均具有转化能力,有临床试验也验证了以HER-2为靶点的药物对各种携带HER-2突变肿瘤的敏感性。此外,应用下一代测序(NGS)或实时定量PCR(RT-PCR)对活检组织或循环游离DNA(cfDNA)中的基因突变可进行鉴定。本文就HER-2突变在不同恶性实体瘤中的研究现状和临床进展情况进行综述,包括HER-2基因的基本结构与功能、检测方法、突变类型及治疗策略等,以便为下一代抗HER-2靶向治疗提供新的思路和指导。In recent years,with the deepening of research on tumorigenesis and development at the molecular level,people have a rich understanding of the role of HER-2,a proto-oncogene,in malignant solid tumors.Recent studies have shown that certain HER-2"hot spot"mutations are carcinogenic in a variety of cancer types compared to traditional HER-2 gene amplification,and have transforming ability in vitro and in vivo.Recent clinical trials have also shown the sensitivity of HER-2-targeted drugs to tumors carrying various HER-2 mutations.In addition,gene mutations in biopsy tissue or circulating free DNA(cfDNA)can be identified using next-generation sequencing(NGS)or real-time quantitative PCR(RT-PCR).This article reviews the current status and clinical application of HER-2 mutations in different malignant solid tumors,including the basic structure and function of HER-2 gene,detection methods,mutation types,and treatment strategies,in order to provide ideas and guidance for the next generation of anti-HER-2 targeted therapies.

关 键 词：HER-2基因突变 恶性实体瘤 乳腺癌 来那替尼 

分 类 号：R737.9[医药卫生—肿瘤]