典型遗传性非息肉性大肠癌1例家系分析  

Hereditary Nonpolyposis Colorectal Cancer Analysis of a Family Pedigree

作　　者：珠珠[1] 李文亮[2] 李云峰[3] 叶盛威[3] 陈明清[2] 董坚[1] 

机构地区：[1]昆明医学院第一附属医院生物治疗科,云南昆明650031 [2]昆明医学院第一附属医院肿瘤治疗中心,云南昆明650031 [3]昆明医学院第三附属医院大肠癌治疗中心,云南昆明650106

出　　处：《昆明医学院学报》2008年第6期66-70,共5页Journal of Kunming Medical College

基　　金：云南省社会发展科技计划基金资助项目(2007CA009)

摘　　要：目的探讨遗传性非息肉性大肠癌(HNPCC)的临床特点、病理特点,提高早期诊断和治疗水平,提出HNPCC在临床和基因水平上的筛查策略.报道1例典型的HNPCC家族的临床资料.方法提取肿瘤组织、正常组织DNA,进行微卫星不稳定性分析、免疫组织化学检测.检测1个家系3例HNPCC患者的肿瘤组织微卫星不稳定状态、错配修复基因hMSH2及hMLH1蛋白水平的表达变化.结果3例先证者3个肿瘤组织均表现为高度微卫星不稳定性,3例均表现为hMSH2蛋白表达异常.结论典型的HNPCC病例中错配修复基因突变率较高,hMLH1、hMSH2蛋白免疫组化的检测可作为HNPCC可疑家系的临床筛选,以及DNA测序前的筛选手段.Objective To explore the clinical characteristics, pathological characterisitics of hereditary non-polyposis colorectal cancer （HNPCC） in assistance for its early diagnosis and treatment. To report clinical material of a typical HNPCC family. Methods The HNPCC family was studied using extraction DNA, microsatellite instability analysis, immunohistochemistry staining for hMSH2 and hMLH1 gene. Results All three tumor tissues from 3 members of the family showed high level of microsatellite instability. Three pathological germline mutation （3 on hMLH1） were identified. Conclusions Typical HNPCC shows relatively frequent germline mutations of mismatch repair genes. Microsatellite instability analysis and immunohistochemistry staining may be the effective screening methods before direct DNA sequencing for the detection of mismmch repair genes. It is necessary to establish clinical and molecular diagnostic strategies more suitable for HNPCC.

关 键 词：遗传性非息肉性大肠癌 错配修复基因 微卫星不稳定 家系 

分 类 号：R735.34[医药卫生—肿瘤]