遗传性非息肉病性结直肠癌临床分子诊断的研究进展  

Recent advances in molecular diagnosis of hereditary nonpolyposis colorectal cancer

作　　者：陈红锦[1] 林秋[1] 曾莉[1] 杨柏霖[2] 

机构地区：[1]南京中医药大学第一临床医学院,江苏省南京市210029 [2]南京中医药大学附属医院,江苏省南京市210029

出　　处：《世界华人消化杂志》2012年第29期2806-2811,共6页World Chinese Journal of Digestology

基　　金：国家自然科学基金资助项目;No.30873272;江苏省自然科学基金资助项目;No.BK200845;江苏省普通高校研究生科研创新计划基金资助项目;No.CXZZ12-0607~~

摘　　要：遗传性非息肉病性结直肠癌(hereditary nonpolyposis colorectal cancer,HNPCC)是一种由于错配修复基因(mismatch repair gene,MMR)突变导致的常染色体显性遗传性疾病,占结直肠癌的5%-15%.研究显示,与HNPCC发生相关的错配修复基因有hMSH2、hMLH1、hMSH6、hPSM1和hPSM2.HNPCC肿瘤具有发病早、近段结肠多见、原发癌多见、肠外肿瘤多见、病理以黏液腺癌为主的特点.到目前为止,HNPCC的诊断主要依赖病史及相关遗传检测结果.对于符合Amsterdam Ⅱ或Bethesda标准的结直肠癌患者应进行微卫星不稳定(microsatellite instability,MSI)和免疫组织化学错配修复蛋白的检测,继而进行错配修复基因等种系突变检测.Hereditary nonpolyposis colorectal cancer （HN- PCC） is a dominant autosomal genetic syndrome, accounting for 5%-10% of all colorectal cancers. It is caused by inactivating germ-line mutations of DNA mismatch repair （MMR） genes, including hMLH1, hMSH2, hMSH6, hPMS2, and hPMS1. HNPCC shows a tendency towards early age at onset, multiplicity of tumors, right-sided colon involvement, characteristic tumor pathology, and spectrum of extracolonic tumors. The diagnosis of HNPCC mainly relies on history and genetic linkage analysis. Patients meeting the Amster- dam criteria or Bethesda guidelines should undergo detection of microsatellite instability and immunohistochemistry analysis of hMSH2 andhMLH1 expression. If one of the two detections yields a positive result, molecular genetic testing for germline mutations of MMR genes should be taken into consideration.

关 键 词：遗传性非息肉性结直肠癌 微卫星不稳定 免疫组织化学 错配修复基因 

分 类 号：R735.3[医药卫生—肿瘤]