多重连接依赖式探针扩增法在区分肾上腺皮质肿瘤良恶性中的应用  

Identification of benign and malignant adrenocortical tumors with multiplex ligation-dependent probe amplification

作　　者：杨洋[1] 汤正义[1] 崔斌[1] 龚慧[1] 田秀丽[1] 黄佳佳[1] 叶菲[1] 徐茜[1] 李小英[1] 宁光[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院内分泌代谢病科,上海市内分泌代谢病临床医学中心,上海200025

出　　处：《山西医科大学学报》2008年第9期810-813,863,共5页Journal of Shanxi Medical University

基　　金：上海市教委重点学科建设基金资助项目(Y0204)

摘　　要：目的采用多重连接依赖式探针扩增法(MLPA),分析筛查不同肾上腺皮质肿瘤中基因缺失/重复的差别。方法选择5例肾上腺皮质腺瘤和2例肾上腺皮质癌患者,采用MLPA的方法针对癌基因和抑癌基因,对肿瘤组织DNA潜在发生缺失/重复的基因进行突变筛查。结果肾上腺皮质良性肿瘤中,部分存在06p21.3、12q24.13、17p13.1、17q21.1、19q13.41基因位点重复性改变;在肾上腺皮质癌中,上述区段均发生改变,同时存在片段11q13缺失。结论MLPA法适合检测肾上腺皮质肿瘤的基因缺失/重复位点,肾上腺皮质腺瘤中基因位点改变数目显著少于皮质癌。Objective To detect deletion or duplication of some tumor-related genes in adrenocortical tumors： Methods Genomic DNA from 5 cases of adrenocortical adenomas and 2 cases of adrenocortical carcinomas were extracted. With 76 different probes, the deletion/duplication of oneogenes and anti-oncogenes were screened with MLPA, Results Certain genetic deletion or duplication on 06p21.3,12q4.13,17p13.1,17q1.1 and 19q13.41 existed in adrenocortical adenomas. The carcinoma had all these mutations with genetic deletion of 11q13, which was normal in adenomas. Conclusion The amounts of deletion and duplication in benign adrenal tumors are less than those in adrenal carcinomas. MLPA could be used as a tool to detect benign and malignant tumors with the analysis of genetic mutations.

关 键 词：多重连接依赖式扩增法 肾上腺皮质肿瘤 肾上腺皮质癌 染色体缺失/重复 

分 类 号：R736.6[医药卫生—肿瘤]