神经营养因子受体酪氨酸激酶基因融合在野生型胃肠间质瘤精准诊治中的研究  

Study of neurotrophic factor receptor tyrosine kinase gene fusion in the precise treatment of wild⁃type gastrointestinal stromal tumor

作　　者：张海东 尹晓南 蔡兆伦 张波[1,2] Zhang Haidong;Yin Xiaonan;Cai Zhaolun;Zhang Bo(Department of Gastrointestinal Surgery,West China Hospital,Sichuan University,Chengdu 610041,China;Department of Gastrointestinal Surgery,Sanya People's Hospital,West China Sanya Hospital,Sichuan University,Hainan Sanya 572000,China)

机构地区：[1]四川大学华西医院胃肠外科,成都610041 [2]三亚市人民医院,四川大学华西三亚医院,572000

出　　处：《中华胃肠外科杂志》2021年第9期769-774,共6页Chinese Journal of Gastrointestinal Surgery

基　　金：四川省科技厅重点研发项目(2020YFS0234);四川大学华西医院学科卓越发展1.3.5工程项目(ZYJC18034)。

摘　　要：神经营养因子受体酪氨酸激酶(NTRK)基因负责编码NTRK,NTRK在神经系统的发育和功能中扮演着重要的角色。NTRK基因融合突变导致嵌合体NTRK蛋白的产生,该蛋白通过组成性激活或者过度表达,从而获得致癌潜力。NTRK基因融合突变会导致一类特殊类型野生型GIST的发生,其临床表现及治疗与其他类型GIST完全不同。这种融合突变,可以在临床中通过多种方法检测到,包括肿瘤DNA、RNA测序以及免疫组织化学染色等。对于NTRK基因融合阳性的肿瘤患者,酪氨酸激酶抑制剂如拉罗替尼(larotrectinib)或恩曲替尼(entrectinib)均表现出良好的抗肿瘤效果,临床应答率高达75%。因此,需提高对此类患者的认识和检出,使用酪氨酸激酶抑制剂进行个体化精准治疗,从而改善其预后。The neurotrophin receptor kinase(NTRK)gene encodes neurotrophic factor receptor tyrosine kinase(NTRK),which plays an important role in the development and function of the nervous system.NTRK gene fusion mutation results in the production of chimeric NTRK proteins,which have carcinogenic potential through constitutive activation or overexpression.NTRK gene fusion mutation can lead to a special type of wild type gastrointestinal stromal tumor(GIST),whose clinical manifestations and treatment are completely different from other types of GIST.This fusion mutation can be detected clinically by a variety of methods,including tumor DNA and RNA sequencing and immunohistochemical staining.In patients with NTRK fusion positive tumors,NTRK inhibitors such as larotrectinib and entrectinib have shown good antitumor efficacy,with clinical response rates as high as 75%.Therefore,there is a need to improve the recognition and detection of fuch patients and to improve their prognosis by individualized and precise treatment with TRK inhibitors.

关 键 词：胃肠间质瘤 野生型 神经营养因子受体酪氨酸激酶基因 酪氨酸激酶抑制剂 精准治疗 

分 类 号：R735[医药卫生—肿瘤]