MSI-H单发性肠癌中hMLHI基因启动区甲基化测定在癌症临床诊断和早期治疗中的作用和意义  

Determination of hMLH1 promoter in sporadic colon cancer with MSI-H is important in advances in clinic diagnosis and treatment

作　　者：邢玉林[1] 皋岚湘[2] 高小玲[3] 

机构地区：[1]北京军区总医院特需治疗科,100700 [2]北京军区总医院病理科,100700 [3]美国哈佛医学院病理系

出　　处：《中国现代医学杂志》2005年第24期3730-3732,共3页China Journal of Modern Medicine

摘　　要：目的探讨MSI,MMR和hMLHI基因启动区甲基化之间的关系以及可能存在的致癌机制。强调甲基化测定在癌症的早期诊断与跟踪治疗中所应引起的重视。方法详细阐述了从病人肿瘤组织样品中基因组DNA的粹取以及MSP的具体测定方法步骤,以及引物的选用。结果90%的MSI-H单发性肠癌病人存在着hMLHI基因启动区甲基化现象。结论在MSI-H型的单发性肠癌中,hMLHI基因启动区甲基化是造成MMR缺损的原因。在这个背景下,一个非遗传性的后生环境也许会导致在肿瘤中多种遗传性变化。该结论将为抗癌药物的设计提供重要信息。DNA甲基化测定是一个很有潜力的癌症生化诊断标志,它不但在临床诊断与跟踪治疗过程中发挥着作用,同时也将一步步揭示致癌的机制。[Objective] To analyse the relationship between MSI, MMR anf hM1H1. [Method] Tissue samples were collected and DNA was extracted. Metrylation-specific PCR（MSP） and SW48 and SW480 colon cell lines were used as positive control of methylation and unmethylation. [Results] 9 of 10 colon cancer patients with MSI-H showed hMLH1 promoter methylation. Results were accepted. [ Conclusion] Study of methylation will reveal the mechanism of cancerinduced. Hypermethylation of hMLH1 and the associated MSI＋ phenotype in sporadic colon cancer may represent an unusual setting in which an epigenetic event may lead to multiple genetic alteration in cancer.

关 键 词：结肠癌 甲基化 基因 MSI hMLHI 启动区 PCR 

分 类 号：R735.3[医药卫生—肿瘤]