少见突变转移性结直肠癌病人的靶向治疗  

The targeted therapy for metastatic colorectal cancer with rare e genetic alterations

作　　者：王辰辰 徐烨[2,3] WANG Chen-chen;XU Ye(Department of Oncology,Fudan University Shanghai Cancer Center,Shanghai 200032;Department of Oncology,Shanghai Medical College of Fudan University,Shanghai 200032,China)

机构地区：[1]复旦大学附属肿瘤医院肿瘤内科,上海200032 [2]复旦大学附属肿瘤医院大肠外科,上海200032 [3]复旦大学上海医学院肿瘤学系,上海200032

出　　处：《中国实用外科杂志》2024年第7期780-786,共7页Chinese Journal of Practical Surgery

基　　金：上海市抗癌协会“翱翔计划”项目(No.SHAX-LC-202333)。

摘　　要：随着精准医学的发展,越来越多的少见基因变异(包括基因突变、扩增、重排或融合)被发现与结直肠癌的进展相关。在转移性结直肠癌(mCRC)领域,近年来针对如BRAF、ERBB2(HER2)、KRAS、NTRK等基因的少见突变,相应靶向药物的研发为这些特定基因类型的病人提供了新的治疗选择,显著改善了病人的生存状况。了解这些少见基因变异的状态和临床研究结果对于选择最佳的治疗方案至关重要。但该领域仍面临诸多挑战和问题,随着精准医学的进一步发展和药物研发的不断进步,未来将有更多针对特定分子类型的靶向药物应用于结直肠癌的治疗,同时将有更多合并少见基因突变的mCRC病人有机会接受针对性更高、疗效更好的分子靶向治疗。With the development of precision medicine,an increasing number of rare genetic variations(including gene mutations,amplifications,rearrangements/fusions)have been found to be associated with the progression of colorectal cancer.In the field of metastatic colorectal cancer(mCRC),the research and development of targeted drugs for rare mutations in genes,such as BRAF,ERBB2(HER2),KRAS,and NTRK,in recent years have provided new treatment options for patients with these specific genetic types,significantly improving their survival conditions.Understanding the status and clinical research results of these rare genetic variations is crucial for selecting the optimal treatment plan.However,this field still faces many challenges and problems.With the further development of precision medicine and the continuous progress of drug discovery,more targeted drugs targeting specific molecular types will be applied to the treatment of colorectal cancer in the future.At the same time,more mCRC patients with rare gene mutations will have the opportunity to receive molecular targeted therapy with better specificity and efficacy.

关 键 词：结直肠癌 靶向治疗 基因突变 基因重排 基因扩增 

分 类 号：R6[医药卫生—外科学]