遗传性非息肉病性大肠癌的研究进展  

Clinical prospects and research progress in hereditary non-polyposis colorectal cancer

作　　者：顾国利[1] 周晓武[1] 王石林[1] 

机构地区：[1]中国人民解放军空军总医院普通外科,北京市100036

出　　处：《世界华人消化杂志》2007年第29期3115-3121,共7页World Chinese Journal of Digestology

摘　　要：遗传性非息肉病性大肠癌(HNPCC)是一种由错配修复基因(MMR)突变造成的常染色体显性遗传病,又称Lynch综合征,是遗传性大肠癌的代表.HNPCC约占全部大肠癌的5%-15%.错配修复基因(MMR)的种系突变和微卫星不稳定(MSI)是其分子遗传学基础.HNPCC的临床病理特点突出,具有右半结肠多见、发病早、病理分化差、多原发癌多见的特点.目前其治疗方法以手术为主,COX-2阻滞剂可能成为HNPCC治疗的一个新的途径.近年来分子生物学的进展也为人们对HNPCC生物学行为和治疗的认识提供了有益的参考.Hereditary non-polyposis colorectal cancer （HNPCC）, also called Lynch syndrome, is an autosomal-dominantly inherited disease and is associated with germline mutations in mismatch repair （MMR） genes and microsatellite instability （MSI）. HNPCC is the most common form of hereditary colorectal cancer, accounting for 5%-15% of colorectal cancers. HNPCC has characteristic clinicpathological features, such as right-sided predominance, more synchronous or metachronous multiple primary colorectal cancer, young age at diagnosis, and poor histopathological differentiation. Recently, surgery has been the main means of treating HNPCC. However, COX-2 inhibitors may be a new therapeutic approach. Recent molecular biology studies have d our understanding of its the biological behavior and therapy.

关 键 词：遗传性非息肉病性大肠癌 错配修复基因 微卫星不稳定 

分 类 号：R735.34[医药卫生—肿瘤]