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目的 对中国人遗传性非息肉病性结直肠癌的肿瘤组织进行hMSH2 和hMLH1蛋白表达监测及微卫星不稳定性检测。方法 共收集 5 8个符合不同临床诊断标准的家系 ,对符合Amsterdam标准 2 4个家系 (AC组 )的 38个肿瘤 (来自 2 2个家系 )、符合日本标准 15个家系 (JC组 )的 16个肿瘤 (来自 12个家系 )、符合Bethesda指导纲要的 19例患者 (BG组 )中 12例的 13个肿瘤组织进行研究。选取 5个微卫星位点BAT2 6、BAT2 5、D2S12 3、D5S346和D17S2 5 0及单克隆抗体hMSH2 和hMLH1用于分析。结果 AC组家系 10 0 %表现为高度微卫星不稳定性 (MSI H) ,其中 81.8% (18/ 2 2 )表现为hMSH2 和hMLH1表达异常 ;JC组家系中 ,93.3% (14 / 15 )和 1/ 1个腺瘤表现为MSI H ,4 5 .5 % (5 / 11)表现为hMSH2 或hMLH1表达异常 ;BG组家系中 ,5 3.8% (7/ 13)患者肿瘤表现为MSI H ,其中 4 / 7表现hMSH1表达异常。结论 不同临床诊断标准的家系 ,其肿瘤组织MSI H阳性和错配修复蛋白表达异常的频率不同 ,Amsterdam标准和日本标准可较准确地反映肿瘤组织中错配修复缺陷情况 ,但Bethesda指导纲要也不可或缺。在临床诊断的基础上 ,合用免疫组化和微卫星不稳定性检测 ,可以较全面地检测到错配修复缺陷肿瘤。错配修复蛋白表达异常和微卫星不稳定性
Objective To detect the expression of hMSH2 and hMLH1 protein and microsatellite instability in Chinese hereditary non-polyposis colorectal cancer. Methods A total of 58 pedigrees with different clinical diagnostic criteria were collected. Thirty-eight tumors (from 22 pedigrees) of 24 pedigrees with ACM criteria (AC group) and 16 Thirteen tumor tissues of 12 patients from 19 patients (BG group) that met the Bethesda guidelines were studied in one tumor (from 12 pedigrees). Five microsatellite loci, BAT2 6, BAT2 5, D2S12 3, D5S346 and D17S2 50 and monoclonal antibodies hMSH2 and hMLH1 were selected for analysis. Results 100% of AC pedigrees showed highly microsatellite instability (MSI H), of which 81.8% (18/2 2) showed abnormal expression of hMSH2 and hMLH1; 93.3% (14/15) and One in one adenoma showed MSI H, and 45.5% (5/11) showed abnormal expression of hMSH2 or hMLH1. In 3.8 BG (7 of 13) patients, the tumor showed MSI H 4/7 showed abnormal expression of hMSH1. Conclusion The frequencies of MSI H positive and mismatch repair protein expression in different clinically diagnosed pedigrees are different from each other. The Amsterdam and Japanese standards can reflect the mismatch repair defects in tumor tissue accurately. However, the Bethesda guidelines may not Or missing. On the basis of clinical diagnosis, combined with immunohistochemistry and microsatellite instability detection, can be more comprehensive detection of mismatch repair defect tumors. Mismatch repair protein expression abnormalities and microsatellite instability