中国北方人HNPCC微卫星不稳定性的研究  

Research of detection role of microsatellite instability in northern China people with HNPCC

作　　者：刘文志[1] 尹家俊[1] 王亚东[1] 王舒宝[2] 

机构地区：[1]大连大学附属中山医院普外科,辽宁大连116001 [2]中国医科大学附属第一医院肿瘤外科,辽宁沈阳110001

出　　处：《中华肿瘤防治杂志》2007年第20期1527-1530,共4页Chinese Journal of Cancer Prevention and Treatment

基　　金：大连市卫生局科研基金项目(大卫科发2006204)

摘　　要：目的:通过对遗传性非息肉病性大肠癌(hereditary nonposis colorectal cancer,HNPCC)与普通遗传性大肠癌微卫星不稳定性(microsatellite instability,MSI)的检测,为临床筛检HNPCC家系提供依据。方法:选取符合中国人HNPCC诊断标准家系(A组)和普通遗传性大肠癌诊断标准家系(B组)的先证者各20例,另选散发性大肠癌(C组)20例为对照组,用PCR-SSCP的方法对上述肿瘤标本进行MSI检测。结果:A、B、C3组高度微卫星不稳定性(MSI-H)的发生率分别为55.0%(17/20)、40.0%(8/20)和10.0%(2/20),3组之间比较差异有统计学意义,P<0.05。MSI-H在A、B、C3组平均发病年龄分别为43.6、52.2和61.8岁,逐渐升高;右半结肠癌发生率分别为55.0%(11/20)、25.0%(5/20)和0,逐渐下降,差异有统计学意义,P<0.05。所选5个位点中BAT26和BAT25的表达率最高,均为94.1%(16/17)。在MSI-H中,A组低分化腺癌占70.6%(12/17),明显高于B、C两组的4/8和1/2,P<0.05。结论:MSI与HNPCC的临床病理特征高度相关,该方法经济、易行,可作为HNPCC的筛检手段。OBJECTIVE.. To detect the microsatellite instability （MSI） in hereditary nonpolyposis colorectal cancer （HNPCC） and ordinary hereditary colorectal cancer and to provide the criteria of screening the kindreds with HNPCC in the molecular level. METHODS.. MSI was detected in the specimens by means of PCR-SSLP from 20 cases with HNPCC,20 cases with ordinary hereditary colorectal cancer and 20 cases with sporadic colorectal cancer. RESULTS： The positive rates of MSI were 85.0% （17/20） in the HNPCC group, 40.0% （8/20） in the ordinary hereditary colorectal cancer group and 10.0% （2/20） in the sporadic colorectal cancer group, respectively. The difference was statistically significant. The mean ages of the three groups were 43.6, 52.2 and 61.8 years old, respectively, which increased gradually. The incidences of right hemicolon cancer were 55.0% （11/20）, 25.0 % （5/20） and 0, respectively, which decreased gradually. The difference was statistically significant. The expression rates of BAT26 and BAT25 were both 94. 1%, respectively, being the highest in the 5 gene sites studied. The incidence of poorly differentiated adenocarcinoma was 70.6 % （12/17） in the H NPCC group among MSI-H, which was much higher than the other groups which were 4/8 and 1/2, respectively. CONCLUSIONS： The detection of MSI is simple, economical and has high correlation with the clinicopathologic feature of HNPCC. It can be used as a screening method to detect the germane mutation of the mismatch repair gene.

关 键 词：结直肠肿瘤/遗传学 结直肠肿瘤 遗传性非息肉性 微卫星不稳定性 

分 类 号：R735.34[医药卫生—肿瘤]