遗传性非息肉病性大肠癌的研究进展

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.

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

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 deepened our understanding of its the biological behavior and therapy.