摘要
目的:探讨小肠腺癌中微卫星不稳定(microsatellite instability,MSI)的情况,及其与错配修复基因(mismstch repair,MMR)hMLH1和hMSH2突变的相关性。方法:收集1998-04-01-2009-12-31新疆维吾尔自治区人民医院手术切除的小肠腺癌组织58例及相应的正常组织(距离癌组织>5cm),采用聚合酶链-简单序列长度多态性(PCR-SSCP)方法检测癌组织和癌旁正常组织石蜡标本DNA的MSI情况,以及hMLH1和hMSH2基因的突变情况,比较MSI组和微卫星稳定(microsatellite stability,MSS)组hMLH1和hMSH2基因突变的差异。结果:58例小肠腺癌样本中,MSI19例,占32.76%;MSS 39例,占67.24%。19例MSI中,高频率MSI(high frequency MSI,MSI-H)12例,占20.69%;低频率MSI(low frequency MSI,MSI-L)7例,占12.07%。5个微卫星位点共检出36个不稳定位点,其中BAT26的频率为30.56%(11/36),D2S123的频率为33.33%(12/36),BAT40的频率为11.11%(4/36),D17S250的频率为13.89%(5/36),D3S346的频率为11.11%(4/36)。12例MSI-H中,hMLH1基因突变6例,hMSH2基因突变1例(第7外显子突变);7例MSI-L中,2例发生hMLH1基因突变,未发现hMSH2基因突变。19例MSI中,存在hMLH1和hMSH2基因突变者9例,总突变发生率为47.37%(9/19);39例MSS中,未发现hMLH1和hMSH2基因突变,两组比较差异有统计学意义,χ2=21.87,P<0.001。结论:MSI是小肠腺癌中一个常见分子事件,hMLH1基因突变可能是导致MSI的主要原因,联合分析MSI和hMLH1及hMSH2基因突变情况对小肠腺癌的早期诊断具有重要意义。
OBJECTIVE： To explore the microsatellite instability （MSI） conditions in intestinal adenocarcinomas,and the relationship between MSI and mutations of hMLH1 and hMSH2. MET/lORDS： Fifty-eight eases of small bowel adenocarcinoma tissue and the normal tissues adjacent to carcinoma （from the cancer tissue more than 5 cm）,that were removed in surgery from 1998-04-01 to 2009-12-31 in People＇s Hospital of Xinjiang Autonomous Region were collected. MSI,mutation of hMLH1 and hMSH2 of carcinoma tissue and normal tissues adjacent to carcinoma were detected with polymerase chain reaction-single strand conformation polymorphism （PCR-SSCP）. The differences of hMLH1, hMSH2 mutation between MSI group and mierosatellite stability （MSS） group were compared. RESULTS： In 58 cases of small intestinaladenoearcinoma samples,19 eases（32.76%） were MSI,39 cases（67.24%） were MSS, 12 cases（20.69%） were high frequency MSI （high frequency MSI, MSI-H）, 7 cases （12. 07%） were low frequency MSI （low frequency MSI, MSI-L）. There were 36 MSI points detected, the frequency of BAT26 was 30. 56% （11/36）, D2S123 was 33. 33% （12/36） ,BAT40 was 11.11%（4/36） ,D17S250 was 13.89%（5/36） ,D3S346 was 11.11% （4/36）. Six cases were hMLH1 mutation and 1 cases （seventh exons） was hMSH2 mutation in 12 cases of MSI-H. Two cases of 7 MSI-L were hMLH1 mutation, hMSH2 mutation was not found. The total mutation rate of hMLH1 and hMSH2 was 47. 37 % （9/19）, hMLH1 and hMSH2 mutations were not found in 39 cases of MSS, MSI group and MSS group had significant difference（X2 = 21.87,P〈0. 001）. CONCLUSION： MSI is a common molecule event in small bowel adenocarcinoma, hMLH1 mutation may be the main cause of MSI,it has a certain value in the early diagnosis of small bowel adenocarcinoma to combin the analysis of hMLH1 and hMSH2 mutation.
出处
《中华肿瘤防治杂志》
CAS
北大核心
2014年第9期688-691,共4页
Chinese Journal of Cancer Prevention and Treatment
关键词
小肠腺癌
微卫星不稳定性
错配修复基因
突变
intestinal adenocarcinomas
microsatellite instability
mismatch repair gene
mutation
