Expert Consensus on the Diagnosis and Treatment of NRG1/2 Gene Fusion Solid Tumors.

IF 1.2 Q4 GENETICS & HEREDITY Global Medical Genetics Pub Date : 2024-02-27 eCollection Date: 2024-01-01 DOI:10.1055/s-0044-1781457

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

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Abstract

The fusion genes NRG1 and NRG2 , members of the epidermal growth factor (EGF) receptor family, have emerged as key drivers in cancer. Upon fusion, NRG1 retains its EGF-like active domain, binds to the ERBB ligand family, and triggers intracellular signaling cascades, promoting uncontrolled cell proliferation. The incidence of NRG1 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 NRG1 and NRG2 gene fusions, whereas pERBB3 immunohistochemistry can serve as a rapid prescreening tool for identifying NRG1 -positive patients. Currently, there are no approved targeted drugs for NRG1 and NRG2 . Common treatment approaches involve pan-ERBB inhibitors, small molecule inhibitors targeting ERBB2 or ERBB3, and monoclonal antibodies. Given the current landscape of NRG1 and NRG2 in solid tumors, a consensus among diagnostic and treatment experts is proposed, and clinical trials hold promise for benefiting more patients with NRG1 and NRG2 gene fusion solid tumors.

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NRG1/2基因融合实体瘤诊断与治疗专家共识》。

表皮生长因子（EGF）受体家族的融合基因 NRG1 和 NRG2 已成为癌症的关键驱动因素。融合后，NRG1 保留其 EGF 样活性域，与 ERBB 配体家族结合，并触发细胞内信号级联，促进细胞失控性增殖。不同癌症类型的 NRG1 基因融合发生率不同，其中肺癌的发生率最高，为 0.19% 至 0.27%。CD74和SLC3A2是最常观察到的融合伙伴。基于 RNA 的新一代测序是检测 NRG1 和 NRG2 基因融合的主要方法，而 pERBB3 免疫组化可作为快速预筛工具，用于识别 NRG1 阳性患者。目前，针对 NRG1 和 NRG2 的靶向药物尚未获得批准。常见的治疗方法包括泛 ERBB 抑制剂、针对 ERBB2 或 ERBB3 的小分子抑制剂以及单克隆抗体。鉴于目前 NRG1 和 NRG2 在实体瘤中的情况，诊断和治疗专家提出了共识，临床试验有望使更多 NRG1 和 NRG2 基因融合实体瘤患者受益。

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Global Medical Genetics GENETICS & HEREDITY-

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11.80%

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审稿时长

14 weeks