外周血ctDNA基因突变对早中期非小细胞肺癌患者的诊断效能分析

目的 分析外周血循环肿瘤DNA(circulating tumor DNA, ctDNA)基因突变对非小细胞肺癌患者的诊断效能。方法 纳入2016年12月至2017年12月在河北大学附属医院初诊初治且行单孔胸腔镜手术治疗的50例非小细胞肺癌(non-small cell lung cancer, NSCLC)患者为研究对象。收集所有研究对象外周血后分离血浆,并提取ctDNA。 Illumina HiSeq 3000平台进行目标区域的高通量测序,并以基因突变频率作为ctDNA的检测分析指标。结果 50例患者ctDNA检测非小细胞肺癌的敏感性明显高于血清中癌胚抗原检测的敏感性(P<0.05);ctDNA基因突变频率在不同年龄、性别、病理类型、吸烟史等患者间差异无统计学意义(P>0.05),而在不同肿瘤大小及临床分期患者中差异有统计学意义(P<0.05)。结论 外周血ctDNA基因突变可敏感诊断早中期NSCLC,且与早中期NSCLC肿瘤大小及临床分期有相关性。

Diagnostic efficacy of peripheral blood ctDNA gene mutations in patients with early and mid-stage non-small cell lung cancer

Objective To analyze the diagnostic efficacy of ctDNA gene mutations in peripheral blood in patients with NSCLC. Methods 50 patients with non-small cell lung cancer were newly diagnosed and treated in Affiliated Hospital of Hebei University with single-hole thoracoscopic surgery. After collecting the peripheral blood of all the subjects, plasma was separated and ctDNA was extracted. The Illumina HiSeq 3000 platform was applied to examine high-throughput sequencing of the target area, and the frequency of gene mutation served as detection and analysis index for ctDNA. Results The sensitivity and specificity of ctDNA detection of non-small cell lung cancer in 50 patients with non-small cell lung cancer were significantly higher than those of CEA detection(P<0.05). The frequency of ctDNA mutations in different ages, genders, and pathological types, smoking history, etc.had no significant difference between patients(P>0.05), but there were significant differences among patients with different tumor sizes and clinical stages(P<0.05). Conclusion The mutation of ctDNA gene in peripheral blood can be used for sensitive and specific diagnosis of early and mid-stage non-small cell lung cancer, and it is related to the tumor size and clinical stage of NSCLC in the early and middle stages.