Xu Chunwei, Lian Bin, Ou Juanjuan, Wang Qian, Wang Wenxian, Wang Ke, Wang Dong, Song Zhengbo, Liu Aijun, Yu Jinpu, Zhong Wenzhao, Wang Zhijie, Zhang Yongchang, Liu Jingjing, Zhang Shirong, Cai Xiuyu, Liu Anwen, Li Wen, Mao Lili, 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, 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, Zhai Zhanqiang, Yang Shengjie, Kang Jing, Zhang Jiatao, Zhang Chao, 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, Chen Jing, Zhang Yiping, Zhu Xixu, Shen Yi, Ma Shenglin, Wang Biyun, Si Lu, Lu Yuanzhi, Li Ziming, Fang Wenfeng, Song Yong
Department of Scientific Research, Institute of Cancer and Basic Medicine (ICBM), Chinese Academy of Sciences, Hangzhou Zhejiang 310022, People's Republic of China.
Department of Respiratory Medicine, Affiliated Jinling Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, People's Republic of China.
Glob Med Genet. 2024 Sep 16;11(4):330-343. doi: 10.1055/s-0044-1790230. eCollection 2024 Dec.
The fibroblast growth factor receptor (FGFR) is a crucial receptor tyrosine kinase involved in essential biological processes, including growth, development, and tissue repair. However, FGFR gene mutations, including amplification, fusion, and mutation, can disrupt epigenetics, transcriptional regulation, and tumor microenvironment interactions, leading to cancer development. Targeting these kinase mutations with small molecule drugs or antibodies has shown clinical benefits. For example, erdafitinib is approved for treating locally advanced or metastatic urothelial cancer patients with FGFR2/FGFR3 mutations, and pemigatinib is approved for treating cholangiocarcinoma with FGFR2 fusion/rearrangement. Effective screening of FGFR variant patients is crucial for the clinical application of FGFR inhibitors. Various detection methods, such as polymerase chain reaction, next-generation sequencing, fluorescence in situ hybridization, and immunohistochemistry, are available, and their selection should be based on diagnostic and treatment decision-making needs. Our developed expert consensus aims to standardize the diagnosis and treatment process for FGFR gene mutations and facilitate the practical application of FGFR inhibitors in clinical practice.
成纤维细胞生长因子受体（FGFR）是一种关键的受体酪氨酸激酶，参与包括生长、发育和组织修复在内的重要生物学过程。然而，FGFR基因突变，包括扩增、融合和突变，可破坏表观遗传学、转录调控以及肿瘤微环境相互作用，从而导致癌症发生。用小分子药物或抗体靶向这些激酶突变已显示出临床益处。例如，厄达替尼被批准用于治疗具有FGFR2/FGFR3突变的局部晚期或转移性尿路上皮癌患者，培米替尼被批准用于治疗具有FGFR2融合/重排的胆管癌。有效筛选FGFR变异患者对于FGFR抑制剂的临床应用至关重要。有多种检测方法可供使用，如聚合酶链反应、下一代测序、荧光原位杂交和免疫组织化学，其选择应基于诊断和治疗决策需求。我们制定的专家共识旨在规范FGFR基因突变的诊断和治疗过程，并促进FGFR抑制剂在临床实践中的实际应用。
