NTRK基因融合与肿瘤的发生及相关诊疗的研究进展  

RESEARCH ADVANCES IN NTRK GENE FUSION IN THE DEVELOPMENT,DIAGNOSIS,AND TREATMENT OF TUMOR

作　　者：秦浩仁 杨向红[1] QIN Haoren;YANG Xianghong(Department of Pathology, Shengjing Hospital, China Medical University, Shenyang 110004, China)

机构地区：[1]中国医科大学附属盛京医院病理科,辽宁沈阳110004

出　　处：《精准医学杂志》2022年第1期1-6,共6页Journal of Precision Medicine

基　　金：国家自然科学基金资助项目(81773108)。

摘　　要：神经营养因子酪氨酸受体激酶(NTRK)基因融合于1986年在结直肠癌中首次被发现,这种致癌的NTRK基因融合已经被发现存在于多种不同组织学类型的成人和儿童肿瘤中。NTRK基因融合为靶向治疗提供了新的靶点,目前针对该种基因突变的不限年龄、不限肿瘤类型的广谱抗癌药Larotrectinib和Enrectinib也已经在美国、日本、欧洲地区批准上市。本文将从原肌球蛋白受体激酶(TRK)蛋白的生理与功能、NTRK基因融合与肿瘤发生、NTRK基因融合的检测、NTRK基因融合的靶向治疗4个方面进行梳理阐述。Neurotrophic tyrosine receptor kinase(NTRK)gene fusion was first identified in colorectal cancer in 1986,and at present,this oncogenic NTRK gene fusion has been found in various histological types of adult and pediatric tumors.NTRK gene fusions provide new targets for targeted therapy,and as the broad-spectrum anticancer drugs targeting this gene mutation with no limitations of age or tumor type,Larotrectinib and Enrectinib have been approved for marketing in the United States,Japan,and Europe.This article elaborates on the physiology and function of tropomyosin receptor kinase protein,NTRK gene fusion and tumorigenesis,detection of NTRK gene fusion,and targeted therapy for NTRK gene fusion.

关 键 词：基因融合 神经营养因子酪氨酸受体激酶 原肌球蛋白受体激酶 肿瘤 免疫组织化学 原位杂交 荧光 逆转录聚合酶链反应 第二代测序 分子靶向治疗 

分 类 号：R730.2[医药卫生—肿瘤] R730.5[医药卫生—临床医学]