微卫星不稳定性检测在遗传性非息肉病性结直肠癌家系遴选中的作用  

Role of the detection of microsatellite Instability to identify the kindreds with hereditary nonpolyposis colorectal cancer

作　　者：刘飞[1] 金黑鹰[2] 崔龙[2] 丁义江[1] 孟荣贵[2] 姚航[2] 喻德洪[2] 

机构地区：[1]南京市中医院肛肠外科全国中医肛肠中心,210001 [2]上海第二军医大学长海医院肛肠外科

出　　处：《中华胃肠外科杂志》2003年第5期320-322,共3页Chinese Journal of Gastrointestinal Surgery

基　　金：国家自然科学基金(39970823;30170927)

摘　　要：目的 探讨微卫星不稳定性(MSI)检测在遗传性非息肉病性结直肠癌(HNPCC)家系遴选中敏感性、特异性及临床应用的价值。方法 对12例符合Amsterdam标准的HNPCC患者和16例散发性结直肠癌患者的肿瘤标本进行微卫星不稳定性检测。结果 若将高微卫星不稳定性(MSI-H)及低微卫星不稳定性(MSI-L)的结直肠癌患者作为HNPCC家系的诊断标准,其敏感性为100％,特异性为75％,正确率为81％;若仅将MSI-H的结直肠癌患者作为HNPCC家系的诊断标准,其敏感性为100％,特异性为94％,正确率为95％。结论 微卫星不稳定性检测遴选HNPCC家系敏感性和特异性较高,而且两者简单、经济,适合在临床广泛应用。Objective To study the specificity and sensitivity of the detection of microsatellite instability(MSI) to identify the kindreds with hereditary nonpolyposis colorectal cancer and analyze its clinical value. Method MSI was detected in the specimens from 12 cases with HNPCC and 16 cases with sporadic colorectal cancer. Results The specificity and sensitivity of MSI were 100% and 75% if MSI-H and MSI-L were used as diagnostic standard of HNPCC. The specificity and sensitivity of MSI increased to 100% and 94% if only MSI-H was used as diagnostic standard. Conclusions The specificity and sensitivity of MSI to identify the HNPPC kindreds are high. The detection of MSI is simple and economical and can be used in clinic.

关 键 词：微卫星不稳定性检测 遗传性非息肉病性结直肠癌 家系遴选 临床应用 诊断 

分 类 号：R735.3[医药卫生—肿瘤]