Chen Chunmei, Yu Yang, Huang Meijuan
Respiratory and Critical Care Medicine, Chengfei Hospital, Chengdu 610073, China.
Thoracic Oncology Center, West China Hospital, Sichuan University, Chengdu 610041, China.
Zhongguo Fei Ai Za Zhi. 2024 May 20;27(5):399-404. doi: 10.3779/j.issn.1009-3419.2024.102.19.
Lung cancer is the most common malignant disease and the leading cause of cancer death in China. Non-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. .
肺癌是中国最常见的恶性疾病和癌症死亡的主要原因。非小细胞肺癌（NSCLC）占所有肺癌的80%以上，NSCLC基因突变概率高，类型多样。随着二代测序（NGS）检测技术的发展，越来越多的罕见融合基因突变患者被检测出来。神经调节蛋白1（NRG1）基因是一种罕见的致癌驱动基因，可导致人表皮生长因子受体3（Her3/ErbB3）介导的通路激活，从而导致肿瘤形成。在本文中，我们报告了1例通过基于RNA的NGS检测到CRISPLD2-NRG1融合的混合性NSCLC病例，该患者在治疗1个月后对阿法替尼反应良好，磁共振成像（MRI）显示颅内病变缩小。同时，我们还整理了既往报道的具有NRG1罕见基因融合突变的NSCLC患者，以便为临床诊断和治疗提供有效的参考。
