摘要目的：观察 xTAG 液相芯片技术检测经支气管针吸活检术(TBNA)细胞学标本及配对组织学标本中表皮生长因子受体(EGFR)基因突变情况，比较两者有无差别。方法收集非小细胞肺癌组织标本及配对 TBNA 细胞学标本，两组样本分别用 xTAG 液相芯片技术进行 EGFR 基因(19和21)突变分析。结果 EGFR 外显子19在非小细胞肺癌组织学标本中的突变率为30.0%(9/30)，在 TBNA 细胞学标本的突变率为26.7%(8/30)；EGFR 外显子21在非小细胞肺癌组织标本中的突变率为13.3%(4/30)，在 TBNA 细胞学标本的突变率为13.3%(4/30)。在13例患者肿瘤组织中检测出外显子19或21突变，其中12例 TBNA 细胞学标本中也检测出外显子19或21突变。组织学标本为 EGFR 野生型，其配对的 TBNA 细胞学标本也均为野生型，肿瘤组织学标本和配对 TBNA 细胞学标本的 EGFR 突变检测结果总符合率为79%。结论 TBNA 细胞学是一种诊断肺癌及其纵隔淋巴结转移的准确、敏感和特异的方法。用 xTAG 液相芯片技术可以有效地检测 TBNA 细胞学标本中 EGFR 基因突变状态。

abstractsObjective To observe epidermal growth factor receptor (EGFR)gene mutation in transbronchial needle aspiration (TBNA ) cytology specimens and tissue specimens using SurPlex-xTAG70plex liquidchip.Methods DNA was extracted from the TBNA samples,and EGFR gene (exon 1 9 and 21)mutation was analyzed using SurPlex-xTAG70plex liquidchip.Results The mutation rates of EGFR exon 1 9 and 21 were 30.0%(9/30)and 13.3%(4/30)respectively in tumor tissues,while 26.7%(8/30)and 13.3%(4/30)in TBNA samples.Thirteen patients had either EGFR exon 1 9 or 21 mutation in tumor tissues,12 of them were detected to have the same mutation in TBNA samples.All the patients who had wild-type EGFR in tumor tissues were detected to have wild-type in TBNA samples as well.79%of EGFR mutation status in tumor tissues was consistent with that in the TBNA samples.Conclusions The detection of exon 1 9 and 21 of EGFR gene using SurPlex-xTAG70plex liquidchip is feasible on fibro-bronchoscopy cytological samples with the same reliability offered by the histological samples obtained from the same patient.