遗传性非息肉病性结直肠癌家系临床特征及诊断标准分析  

The Clinical Characterization of Hereditary Nonpolyposis Colorectal CancerFamilies from Chinese Population

作　　者：张宏[1] 王简[2] 盛剑秋[1] 张渊志[1] 李世荣[1] 

机构地区：[1]北京军区总医院消化科,北京100700 [2]新乡市中心医院肿瘤外科

出　　处：《胃肠病学和肝病学杂志》2005年第2期186-189,共4页Chinese Journal of Gastroenterology and Hepatology

基　　金：北京市科委资助项目;名称:人类重要疾病基因鉴定与开发(H020220020610)

摘　　要：目的探讨中国人遗传性非息肉病性结直肠癌(HNPCC)家系临床特点和诊断。方法收集69个HNPCC家系(符合Amsterdam标准Ⅱ3 3个、Japan标准2 4个、Bethesda指导原则1～3项12个) ,对其进行分组和比较分析。结果69个家系共有癌症2 77人,肠癌2 13人,肠外癌64人。HNPCC癌患者中位年龄为46岁。发病高峰年龄为40～49岁。共有两代以上垂直传递家系65个,占所有家系的94.2 %。肠癌患者中(右)半结直肠癌占62 %。共有多原发癌3 3例,占癌患者的11.9%。共有肠外癌64人,占癌患者的2 3 .1% ,其中胃癌、子宫内膜癌分别占癌患者的6.5 %和4% ,列前两位。结论HNPCC家系与SCRC相比具有发病年龄轻、垂直传递、肠外癌发病率高、肿瘤谱广、常见多原发癌、好发于右半结直肠的特点。某些特点与西方国家不完全相同。Objective To investigate the clinical characteristics and the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) families collected from Chinese population. Methods Two hundred and seven cancer patients from 69 families were analyzed by comparing with the sporadic colorectal cancer (SCRC).Results Among the 69 families,33 families fulfilled Amsterdam Criteria Ⅱ (AC Ⅱ),24 families fulfilled Japan Criteria(JC) and 12 families fulfilled Bethesda Guideline(BG) 1～3 items. Among the 277 cancer patients,there were 213 colorectal cancer patients and 64 extra colorectal cancer patients. The median age of HNPCC cancer group were 46 years old,and the peak age of the HNPCC cancer group were between 40 to 49 years old. There were 65 families transmiting vertically more than two generations,accounting for 94.2% of all families. Patients whose cancers located proximal to the splenic flexure among the HNPCC group accounted for 62% of all colorectal cancer patients. There were 33 synchronous or metachronous multiple colorectal cancer patients,accounting for 11.9% of all cancer patients. There were 64 extra colorectal cancer patients,accounting for 23.1% of all cancer patients. Stomach and endometrium were the two most predominant locus for extra colorectal cancers. Conclusions Compared with the SCRC,HNPCC patients had the characteristics of early onsetting,high incidence of extra colorectal cancer, wide tumor spectrum,frequent multiple colorectal cancers and the predominance of right-sided colorectal cancers. But there were some differences between Chinese HNPCC familiese and that of the westen countries.

关 键 词：结肠肿瘤 直肠肿瘤 遗传性非息肉病性结直肠癌 诊断 

分 类 号：R735.3[医药卫生—肿瘤]