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0 2 4年5月第2 7卷第5期 Chin J Lung Cancer, May 2 0 2 4 , Vol. 2 7 , No. 5 ·399 ·  \nDOI: 10.3779/j.issn.1009-3419.2024.102.19 ·病例报道 ·  \n罕见CRISPLD2-NRG1融合突变晚期混合型非小细胞肺癌1例并文献复习  \n陈春梅 喻杨 黄媚娟  \n【摘要】肺癌是中国发病率和死亡率最高的恶性肿瘤。非小细胞肺癌（non-small cell lung cancer, NSCLC）占全部肺癌的80%以上，NSCLC的基因突变概率高，并且种类繁多。随着基因检测技术的进步，越来越多的罕见融合基因变异被检测出来。神经调节蛋白1（ neuregulin 1, NRG1）可促使人表皮生长因子受体3（ human epidermal growth factor receptor 3, Her3/ErbB3）介导的通路激活，从而导致肿瘤形成。本文报道了1例罕见CRISPLD2-NRG1融合突变的晚期混合型NSCLC颅内转移的患者，接受阿法替尼治疗1个月后头部磁共振成像（magnetic resonance imaging, MRI）显示颅内病灶明显缩小，患者对阿法替尼治疗反应良好。同时，我们对以往报道的NRG1基因融合突变的NSCLC病例进行总结，以供临床借鉴。  \n【关键词】 肺肿瘤；阿法替尼； CRISPLD2-NRG1融合突变  \nAfatinib Treatment for Advanced Mixed Non-small Cell Lung Cancer  \nwith CRISPLD2-NRG1 Fusion: A Case Report and Literature Review  \nChunmei CHEN1, Yang YU2, Meijuan HUANG2  \n1Respiratory and Critical Care Medicine, Chengfei Hospital, Chengdu 610073, China;  \n2Thoracic Oncology Center, West China Hospital, Sichuan University, Chengdu 610041, China Corresponding author: Meijuan HUANG, E-mail: [hmj107@163.com](hmj107@163.com)  \n【Abstract】 Lung cancer is the most common malignant disease and the leading cause of cancer death in China.  \nNon-small cell lung cancer (NSCLC) accounts for over 80% of all lung cancers, and the probability of NSCLC gene mutations is high, with a wide variety of types. With the development of next-generation sequencing (NGS) detection technology, more and more patients with rare fusion gene mutations are detected. Neuregulin 1 (NRG1) gene is a rare oncogenic driver that can lead to activation of human epidermal growth factor receptor 3 (Her3/ErbB3) mediated pathway, resulting in tumor formation. In this article, we reported a case of mixed NSCLC with CRISPLD2-NRG1 fusion detected by RNA-based NGS, who responsed to Afatinib well after 1 month of treatment, and magnetic resonance imaging (MRI) showed shrinkage of intracranial lesions. Meanwhile, we also compiled previously reported NSCLC patients with NRG1 rare gene fusion mutation, in order to provide effective references for clinical diagnosis and treatment.  \n【Keywords】 Lung neoplasms; Afatinib; CRISPLD2-NRG1 fusion mutation  \n【Copyright statement】 Copyright © 2024, Chinese Journal of Lung Cancer.  \n神经调节蛋白1（neuregulin 1, NRG1）是介导细胞间相互作用的信号蛋白，参与组织细胞的发育和成熟。NRG1 基因主要与细胞表面的人表皮生长因子受体3（human epidermal growth factor receptor 3, Her3/ErbB3）结合，激活 ErbB3，而后ErbB3与ErbB2形成异二聚体，进而激活下游的丝裂原活化蛋白激酶（mitogen-activated protein kinase, MAPK）及哺乳动物雷帕霉素靶蛋白（mammalian target of  \n作者单位：610073成都，成都市成飞医院呼吸与危重症医学科（陈春梅）；610041成都，四川大学华西医院胸部肿瘤科（喻杨，黄媚娟）  \n（通信作者：黄媚娟， [E-mail: hmj107@163.com](E-mail: hmj107@163.com)）  \nrapamycin, mTOR）等信号通路，导致细胞增殖分化，从而促进肿瘤的形成和生长[1, 2]。虽然NRG1融合突变最早于 1999年在乳腺癌细胞系中被描述[3]，但直到2014年才首次观察到在肺癌中也携带有这种基因变异[4]。本文报道了1 例罕见的CRISPLD2-NRG1融合突变晚期混合型NSCLC病例，并进行了文献复习。  \n1 病例资料  \n患者，男性，67岁，因“左肺癌术后反复右侧肢体乏力1 年，再发15天”就诊。2年前胸部计算机断层扫描（computed  \n·400 · 中国肺癌杂志2 0 2 4年5月第2 7卷第5期 Chin J Lung Cancer, May 2 0 2 4 , Vol. 2 7 , No. 5  \ntomography, CT）发现左肺上叶结节，左肺门、纵隔淋巴结增大。2 0 21年6月11日行“左上肺楔形切除术+纵隔淋巴清扫”，术后病理：左上肺混合癌（肉瘤样癌+腺癌），分期为pT2aN0M0 IB期，程序性死亡配体1（programmed cell death ligand 1, PD-L1）-22C3 70%。基因检测结果均未见异常突变。术后患者拒绝化疗。2 022年3月首次出现右侧肢体乏力，肌力III级。头部磁共振成像（magnetic resonance imaging, MRI）（2022年4月15日）检查发现左侧顶叶占位，病灶周围水肿明显，考虑为转移瘤（图1A）。行颈胸腹部增强CT、单光子发射计算机断层成像术（singlephoton emission computed tomography, SPECT）等检查，未发现其他部位转移病灶。2 0 22年4月16日行“左侧顶叶侧脑室占位切除术+窦修补术+脑脊液漏修补术”，术后病理：腺癌，免疫组化确认符合肺来源低分化癌（含腺癌成分）转移。血液+左额叶组织配套标本下一代测序（next-generation sequencing, NGS）检测（2022年5月6日）： RAD51D p.K91Ifs*13丰度50%。术后患者右侧肢体乏力有缓解，肌力IV级。术后第37天复查头部增强MRI（2022年5月 23日）示：左侧顶叶术后残腔边缘多发强化壁结节，周围见片状水肿信号，左侧侧脑室后角受压（图1B）。基于患者肺组织PD-L1高表达，于2022年5月26日开始予以帕博利珠单抗联合贝伐珠单抗治疗共6个疗程（图1C）。进一步行头部正电子发射型磁共振成像（positron emission tomography/ magnetic resonance, PET/MR）（2022年6月7日）示：左侧顶叶残腔腔壁多处异常信号伴代谢增高，为肿瘤复发可能性大；同侧额顶叶脑实质水肿。2022年6月13日至15日行左侧顶叶病灶放疗：6 Gy/2 Gy/3 f。最佳疗效评估为部分缓解（partial response, PR）。6个周期后患者出现丙氨酸氨基转移酶升高，最高204 IU/L，根据不良事件通用术语评价标准5.0版（Common Terminology Criteria for Adverse Events 5. 0, CTCAE 5.0）考虑为免疫治疗相关性肝炎，CTACE 3 级肝功能损伤，暂停免疫治疗。2023年1月","cbCaiazR6EwRDmyM","https://ap.wps.com/l/cbCaiazR6EwRDmyM","pdf",1971924,"Chinese","en","# 病例资料\n## 诊疗经过与疗效评估\n# 讨论","[{\"question\":\"本文报道的病例主要诊断是什么？\",\"answer\":\"报道的是罕见CRISPLD2-NRG1融合突变的晚期混合型非小细胞肺癌，伴颅内转移。\"},{\"question\":\"患者在接受阿法替尼治疗后，影像学疗效如何？\",\"answer\":\"阿法替尼治疗1个月后，头部MRI显示颅内病灶明显缩小，疗效良好，并按RECIST 1.1评估为部分缓解（PR）。\"},{\"question\":\"作者在讨论中总结NRG1融合突变与NSCLC的关系是什么？\",\"answer\":\"文中指出NRG1融合可激活与ErbB3相关的下游信号通路，参与肿瘤形成与发展，并提到NRG1融合在NSCLC中的发生率及其可能的可治疗驱动改变特征。\"}]","罕见CRISPLD2-NRG1融合突变晚期混合型非小细胞肺癌1例并文献复习 | PDF",1790020994,15]