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研究应用ARMS-PCR技术分别为表皮生长因子受体(epidermal growth factor receptor,EGFR)基因19外显子缺失和L858R点突变建立3种不同长度扩增子定量检测方法。实验采用不同长度扩增子检测95例非小细胞肺癌(non-small cell lung cancer,NSCLC)患者新鲜冰冻肿瘤组织样本和108例患者石蜡切片样本(formalin-fixation and paraffin-embedding,FFPE)19外显子缺失和L858R突变。结果显示携带突变的FFPE样本中,长度最短扩增子(RDEL-1和RL858R-1)检测样本突变结果显著优于其他2种扩增子(P<0.001;P<0.001);新鲜冰冻肿瘤组织样本不同扩增子检测结果无显著性差异(19外显子缺失:P=0.270;L858R:P=0.249);不同扩增子对野生型(wild type,WT)样本具有很高的检测特异性。研究结果表明试验中采用的几种不同长度扩增子ARMS-PCR方法可适用于新鲜冰冻肿瘤组织EGFR突变检测,但FFPE样本更优选最短的扩增子(RDEL-1和RL858R-1)检测方法。
The ARMS-PCR technique was used to detect three kinds of amplicons with different lengths respectively for exon 19 deletion and L858R mutation in epidermal growth factor receptor (EGFR) gene. In this study, fresh frozen tumor samples from 95 patients with non-small cell lung cancer (NSCLC) and 108 patients with formalin-fixation and paraffin-embedding (FFPE) Exon deletion and L858R mutation. The results showed that the mutations of the shortest amplicons (RDEL-1 and RL858R-1) in the mutated FFPE samples were significantly better than those of the other two amplicons (P <0.001; P <0.001); the fresh frozen tumor tissues The results of different amplicons showed no significant difference (19 exon deletion: P = 0.270; L858R: P = 0.249); different amplicons had high detection specificity for wild type (WT) samples . The results show that several different length amplicons ARMS-PCR method can be applied to the detection of EGFR mutation in fresh frozen tumor tissue, but the FFPE sample more preferably the detection method of the shortest amplicons (RDEL-1 and RL858R-1) .