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

Afatinib Treatment for Advanced Mixed Non-small Cell Lung Cancer with CRISPLD2-NRG1 Fusion:A Case Report and Literature Review

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。

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.