修订Bethseda标准筛选遗传性非息肉病性结直肠癌患者的队列研究  

Screening the hereditary nonpolyposis colorectal cancer by revised Bethesda guideline:a cohort study of 110 cases

作　　者：金黑鹰[1] 丁义江[1] 刘秀芳[1] 杨柏林[2] 赖仁胜[2] 倪敏[1] 葛永盛[1] 

机构地区：[1]南京中医药大学第三附属医院全国肛肠医疗中心,210001 [2]南京中医药大学附属江苏省中医院病理科

出　　处：《中华医学杂志》2007年第21期1445-1447,共3页National Medical Journal of China

基　　金：国家自然科学基金(30572447);南京市医学发展重点项目资助项目(ZKX05028);南京市科技人才培养项目(200407037)

摘　　要：目的研究修订 Bethseda 标准筛选遗传性非息肉病性结直肠癌(HNPCC)的价值及在结直肠癌中的构成比。方法对2004年8月至2005年12月进行手术治疗的连续110例患者建立队列、多重荧光聚合酶链反应方法检测肿瘤的微卫星不稳定(MSI)状态,对于 MSI 结直肠癌患者榆测hMSH2、hMLH1和 hMSH6基因种系突变。结果 110例患者中共检出 MSI 结直肠癌患者23例(20.9%)。在23例 MSI 结直肠癌患者中,共发现病理性突变7个(30.4%),占所有结直肠癌6.4%;其中 hMSH6基因种系突变3个,hMSH2基因突变3个,hMLH1基因突变1个。结论以修订Bethesda 标准,MSI 结直肠癌检出率为20.9%,HNPCC 检出率6.4%;在中国人错配修复基因种系突变中 hMSH2和 hMSH6错义突变比较多见。Objective To study the value of screening hereditary nonpolyposis colorectal cancer （HNPCC） by the revised Bethesda guideline and the rate of HNPCC in colorectal cancer （CRC）. Method Tumor tissues and normal colorectal mucous membrane tissues were collected from 110 successive cases with CRC, 66 males and 42 females, aged 60.8 （26-94）. Fluorescence multiplex polymerase chain reaction was used to detect the microsatellite instability （MSI）. The peripheral blood samples were collected from the patients with MSI, genomic DNA was extracted, and PCR and DNA sequencing were used to detect the germline mutations of hMSH2, hMSH6, and hMLH1. Results Twenty-three out of the 110 patients （20. 9% ） , 12 males and 22 females, aged 57 （47-94） , had MSI. Seven germline mutations were found in these 23 MSI patients, accounting for 6.4% among the 110 CRC patients, including 3 cases of hMSH2 mutation, 3 cases of hMSH6 mutation, and 1 case of mutation of hMLH1. Conclusion Screened by revised Bethesda guideline, the rate of MSI CRC is 20.9% and the rate of HNPCC is 6.4%. The missence germline mutations of hMSH2 and hMSH6 are more common in the Chinese patients with CRC.

关 键 词：结肠直肠肿瘤 遗传性非息肉性 诊断 队列研究 

分 类 号：R735.3[医药卫生—肿瘤]