肺腺癌EML4-ALK融合基因的检测及其临床病理特征

Relationship between the clinical pathological features and ALK rearrangements in patients with primary lung adenocarcinoma

目的探讨荧光原位杂交（FISH）和免疫组化（IHC）两种方法筛选肺腺癌ALK基因突变患者的敏感性和一致性,并讨论ALK基因突变亚型的临床病理特征。方法收集2012年1月~2013年12月收治的肺腺癌患者标本60例,采用FISH和IHC（克隆号D5F3）检测ALK基因重排状态。结果 FISH检测发现11.7%（7/60）的患者发生了ALK基因重排,IHC检测发现13.3%（8/60）的患者有ALK蛋白的表达,以FISH为标准检测方法,则IHC检测ALK突变的敏感性和特异性分别是100%和98.3%,与FISH的一致性达98.4%。ALK基因重排患者年龄偏小,且均为EGFR野生型。结论采用D5F3抗体Ventanna系统进行ALK初筛,再联合FISH进行确认是一种经济、可靠的筛选ALK基因重排肺腺癌的方法。

Objective To investigate the consistency of detection of anaplastic lymphoma kinase（ALK） generearrangement in patients with lung adenocarcinoma by immunohistochemistry（IHC） screening and fluorescence in situhybridization（FISH）. Methods The ALK gene rearrangement in 60 patients with lung adenocarcinomas collected in recenttwo years were detected by ALK IHC（D5F3 clone） and FISH. The mutation of exons 18,19,20 and 21 of epidermal growthfactor receptor（EGFR） was detected by pyrosequencing assay. Results The ALK rearrangements were associated withyounger age of the cases and were all EGFR wild type compared with ALK-negative patients. The sensitivity and specificity ofIHC were 100% and 98.3%, respectively, and the coincidence between the FISH and the IHC was 98.4%. Conclusions IHC combined with auxiliary FISH for initial screening of ALK is a reliable, economical approach in identifying ALK positivelung adenocarcinoma, and IHC can find some ALK positive cases missed by use FISH only.