肺癌患者EGFR及KRAS基因突变检测方法的建立和临床应用

A new method of gene mutation status detection on EGFR and KRAS of lung cancer patients and the assessment of clinical application

目的本研究拟在评估二代测序(next generation sequencing,NGS)技术在肺癌临床分子诊断中应用的可行性。方法本研究选取108例肺癌石蜡包埋样本(formalin fixed paraffin embedded,FFPE),同时进行一代测序(sanger sequencing)和NGS检测样本中EGFR和KRAS基因的突变情况。结果在108例肺癌样本中,一代测序检出突变在二代测序中均检出,另外NGS还检测出目标区域外其他突变。结论 NGS的检测准确性可达到100%。NGS可以应用于肺癌临床分子诊断,同时NGS能给临床提供更详细的基因突变信息,为分子靶向治疗提供依据,更具有市场潜力及应用前景。

Objective The feasibility of application of next generation sequencing（NGS）technology in clinical molecular diagnosis of lung cancer was evaluated in this study. Methods In this study, the variants of the EGFR and KRAS genes from 108 paraffin- embedded tissues of lung cancer were detected by both Sanger sequencing and NGS. The variants detected by Sanger sequencing were as also detected by NGS. Results In 108 cases, NGS detected all the mutations which sanger sequencing detected.In addition, NGS also detected other gene mutation status that Sanger sequencing missed. Conclusion The detection accuracy of NGS could reach 100%. NGS could be used in clinical diagnosis of lung cancer, and NGS can provide more detailed gene mutation information for clinical diagnosis, which provides the basis for molecular targeted therapy. Moreover NGS also has the market potential and application prospects.