基因融合实体瘤诊断与治疗专家共识

Expert Consensus on the Diagnosis and Treatment of Gene Fusion Solid Tumors.

作者信息

Xu Chunwei, Wang Qian, Wang Dong, Wang Wenxian, Fang Wenfeng, Li Ziming, Liu Aijun, Yu Jinpu, Zhong Wenzhao, Wang Zhijie, Zhang Yongchang, Liu Jingjing, Zhang Shirong, Cai Xiuyu, Liu Anwen, Li Wen, Zhan Ping, Liu Hongbing, Lv Tangfeng, Miao Liyun, Min Lingfeng, Chen Yu, Yuan Jingping, Wang Feng, Jiang Zhansheng, Lin Gen, Huang Long, Pu Xingxiang, Lin Rongbo, Liu Weifeng, Rao Chuangzhou, Lv Dongqing, Yu Zongyang, Li Xiaoyan, Tang Chuanhao, Zhou Chengzhi, Zhang Junping, Xue Junli, Guo Hui, Chu Qian, Meng Rui, Wu Jingxun, Zhang Rui, Zhou Jin, Zhu Zhengfei, Li Yongheng, Qiu Hong, Xia Fan, Lu Yuanyuan, Chen Xiaofeng, Ge Rui, Dai Enyong, Han Yu, Pan Weiwei, Pang Fei, He Qingqing, Huang Jintao, Wang Kai, Wu Fan, Xu Bingwei, Wang Liping, Zhu Youcai, Lin Li, Xie Yanru, Lin Xinqing, Cai Jing, Xu Ling, Li Jisheng, Jiao Xiaodong, Li Kainan, Wei Jia, Feng Huijing, Wang Lin, Du Yingying, Yao Wang, Shi Xuefei, Niu Xiaomin, Yuan Dongmei, Yao Yanwen, Huang Jianhui, Feng Yue, Zhang Yinbin, Sun Pingli, Wang Hong, Ye Mingxiang, Wang Zhaofeng, Hao Yue, Wang Zhen, Wan Bin, Lv Donglai, Yang Shengjie, Kang Jin, Zhang Jiatao, Zhang Chao, Ou Juanjuan, Shi Lin, Wang Yina, Li Bihui, Zhang Zhang, Li Zhongwu, Liu Zhefeng, Yang Nong, Wu Lin, Wang Huijuan, Jin Gu, Wang Guansong, Wang Jiandong, Fang Meiyu, Fang Yong, Li Yuan, Wang Xiaojia, Zhang Yiping, Zhu Xixu, Shen Yi, Ma Shenglin, Wang Biyun, Si Lu, Song Yong, Lu Yuanzhi, Chen Jing, Song Zhengbo

机构信息

Department of Scientific Research, Institute of Cancer and Basic Medicine, Chinese Academy of Sciences, Hangzhou Zhejiang, People's Republic of China.

Department of Respiratory Medicine, Affiliated Jinling Hospital, Medical School of Nanjing University, Nanjing Jiangsu, People's Republic of China.

出版信息

Glob Med Genet. 2024 Feb 27;11(1):86-99. doi: 10.1055/s-0044-1781457. eCollection 2024 Jan.

DOI:10.1055/s-0044-1781457

PMID:38414979

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10898996/

Abstract

The fusion genes and , members of the epidermal growth factor (EGF) receptor family, have emerged as key drivers in cancer. Upon fusion, retains its EGF-like active domain, binds to the ERBB ligand family, and triggers intracellular signaling cascades, promoting uncontrolled cell proliferation. The incidence of gene fusion varies across cancer types, with lung cancer being the most prevalent at 0.19 to 0.27%. CD74 and SLC3A2 are the most frequently observed fusion partners. RNA-based next-generation sequencing is the primary method for detecting and gene fusions, whereas pERBB3 immunohistochemistry can serve as a rapid prescreening tool for identifying -positive patients. Currently, there are no approved targeted drugs for and . Common treatment approaches involve pan-ERBB inhibitors, small molecule inhibitors targeting ERBB2 or ERBB3, and monoclonal antibodies. Given the current landscape of and in solid tumors, a consensus among diagnostic and treatment experts is proposed, and clinical trials hold promise for benefiting more patients with and gene fusion solid tumors.

摘要

融合基因和是表皮生长因子（EGF）受体家族的成员，已成为癌症的关键驱动因素。融合后，保留其 EGF 样活性结构域，与 ERBB 配体家族结合，并触发细胞内信号级联反应，促进不受控制的细胞增殖。基因融合的发生率在不同癌症类型中有所不同，肺癌最为常见，发生率为 0.19%至 0.27%。CD74 和 SLC3A2 是最常观察到的融合伴侣。基于 RNA 的下一代测序是检测和基因融合的主要方法，而 pERBB3 免疫组织化学可作为识别阳性患者的快速预筛选工具。目前，尚无批准用于和的靶向药物。常见的治疗方法包括泛 ERBB 抑制剂、靶向 ERBB2 或 ERBB3 的小分子抑制剂以及单克隆抗体。鉴于目前和在实体瘤中的情况，提出了诊断和治疗专家之间的共识，临床试验有望使更多和基因融合实体瘤患者受益。