共纳入18例NSCLC伴有LM的患者, 基础突变中11例(61.11%)为EGFR, 6例(33.33%)为间变性淋巴瘤激酶(anaplastic lymphoma kinase, ALK), 1例(5.56%)为原癌基因酪氨酸蛋白激酶ROS(ROS proto-oncogene 1, receptor tyrosine kinase, ROS1), 伴随突变中肿瘤蛋白P53(tumor protein p53 gene, TP53)、间质-上皮细胞转化因子(mesenchymal-epithelial transition factor, MET)检出率相对较高。CSF样本的靶向基因突变检出率明显高于外周血(100.00% vs 66.67%, P=0.006), 且基础突变基因的CSF丰度均明显高于血浆样本(P < 0.001)。CSF样本检测出丰富的单核苷酸变异(single-nucleotide variations, SNV)和拷贝数变异(copy number variants, CNV), 数量均多于血液样本;且相较于只接受过单一TKI治疗的患者, 使用多种TKI后脑脊液和血液中会产生更多的SNV突变。. The gene discussed is ALK; the disease is non-small cell lung carcinoma.