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结直肠癌少见基因变异的临床诊疗进展
引用本文:孟令男,刘浩,聂勇战,樊代明,卢瑗瑗. 结直肠癌少见基因变异的临床诊疗进展[J]. 中国肿瘤临床, 2021, 48(21): 1107-1112. DOI: 10.12354/j.issn.1000-8179.2021.20211210
作者姓名:孟令男  刘浩  聂勇战  樊代明  卢瑗瑗
作者单位:1.空军军医大学西京消化病医院, 国家消化系统疾病临床研究中心, 肿瘤生物学国家重点实验室 (西安市 710032)
基金项目:本文课题受国家自然科学基金项目(编号:81822031、81871913)资助
摘    要:靶向治疗是驱动基因阳性的晚期结直肠癌(colorectal cancer,CRC)的重要治疗手段。随着深度测序技术的发展、肿瘤临床技术的进展和新型靶向药物的研发,现有的标准化分子病理检测已不能满足对于晚期CRC患者精细化管理的要求。CRC少见基因变异包括基因突变、扩增和重排等,患者往往预后不佳,对传统治疗方法应答较差。本综述总结CRC中少见基因变异的临床诊疗进展,以期使这部分患者得到更多关注和更加精准的个体化治疗。 

关 键 词:结直肠癌   基因变异   基因突变   基因扩增   基因重排   靶向治疗
收稿时间:2021-08-10

Progress in clinical diagnosis and treatment of rare gene variations in colorectal cancer
Affiliation:1.Xijing Hospital of Digestive Diseases, National Clinical Research Center for Digestive Diseases, State Key Laboratory of Cancer Biology, Fourth Military Medical University, Xi’an 710032, China2.Guangxi Medical University, National Center for International Research of Bio-targeting Theranostics, Guangxi Key Laboratory of Bio-targeting Theranostics, Nanning 530021, China
Abstract:Targeted therapy is crucial for advanced colorectal cancer (CRC) with gene-positive drivers. With the development of deep sequencing technology, improvement in clinical tumor technology, and development of new targeted drugs, existing standard molecular pathological detection systems cannot meet the requirements of meticulous management of patients with advanced CRC. Rare gene mutations, amplifications, and rearrangements are associated with poor prognosis and poor response to conventional therapy. This review summarizes the clinical diagnosis and treatment of rare gene mutations in CRC to increase awareness and identify more accurate personalized treatments for these patients. 
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