鼻咽癌微卫星不稳定性初步探讨

The preliminary study on microsatellite instability for nasopharyngeal carcinoma

目的探讨鼻咽癌的微卫星不稳定性(MSI)。方法随机抽取经病理确诊的鼻咽癌初治病例82例,其中,未分化癌2例,其余全为低分化鳞癌。按2008分期标准,Ⅰ期1例,Ⅱ期10例,Ⅲ期30例,Ⅳ期41例。取鼻咽癌组织和口腔脱落细胞,Chelex-100法提起DNA,应用AmpFlSTR Identilifiler系统,用多重聚合酶链式反应(PCR)方法对15个常染色体基因(D8S1179、D21S11、D7S820、CSF1PO、D3S1358、TH01、D13S317、D16S539、D2S1338、D19S433、VWA、TPOX、D18S51、D5S818、FGA)进行扩增,扩增产物经电泳分离和激光扫描分析,STR基因座检测,确定基因分型,是否存在变异。结果 82例鼻咽癌石蜡组织与口腔脱落细胞基因型分析对比,6例检测出鼻咽癌的MSI,占7.32%。1例为两个基因位点MSL,5例为单个基因位点MSL。其中D18S51出现MSI共2例,D16S539出现MSI共5例。Ⅱ～Ⅳ期都有MSI发生,Ⅱ期1例,Ⅲ期1例,Ⅳ期4例。不同分期的基因位点变异情况用Kruskal-Wallis H法分析P>0.05,两类变异位点出现情况比较的McNemar检验P>0.05,均无显著相关性。结论鼻咽癌存在MSI现象,可见于鼻咽癌的各期,呈散在分布,是否与鼻咽癌预后相关尚需进一步探讨。

Objective To investigate the effects of microsatellite instability（microsatellite instability MSI）.Methods The pathological diagnosis of nasopharyngeal carcinoma were randomly selected from 82 newly diagnosed patients,2 cases with undifferentiated carcinoma,The rest are poorly differentiated squamous cell carcinoma.According to the 2008 stages standards,1 case in stage Ⅰ,10 cases in stageⅡ,30 cases in stage Ⅲ,41 cases in stage Ⅳ.With the nasopharyngeal carcinoma and oral epithelial cells,DNA was abstracted using Chelex-100 method.With the application of AmpFlSTR Identilifiler system and multiplex polymerase chain reaction（PCR） method,15 autosomal genes（D8S1179,D21S11,D7S820,CSF1PO,D3S1358,TH01,D13S317,D16S539,D2S1338,D19S433,VWA,TPOX,D18S51,D5S818,FGA） were amplified.The PCR products were analyzed by electrophoresis and laser scanning analysis and STR loci detection to determine the genotype and whether the existence of variation.Results Based on thea analysis of 82 cases of nasopharyngeal carcinoma tissue and oral exfoliated cell genotype,6 cases showed microsatellite instability accounted for 7.32%.One case showed two gene loci mutation.Five cases showed single mutation.D18S51 MSI were demonstrated in 2 patients.D16S539 MSI were shown in 5 patients.There are MSI in stageⅡtoⅣ paitents,1 cases in stage Ⅱ,1 cases in stage Ⅲ,4 cases in stage Ⅳ.Gene locus mutation of different stages were analyzed by Kruskal-Wallis H method,which demonstrated P 0.05.Two variation sites were analyzed by McNemar test,there was no significant correlation between these sites.Conclusion Nasopharyngeal carcinoma demonstrated microsatellite instability phenomenon,which can be found in the every stage of nasopharyngeal carcinoma and scattered randomly.The relationship with nasopharyngeal carcinoma need to be further investigated.