弥漫性大B细胞淋巴瘤中bcl-6基因5′非编码区突变分析  

Mutation of 5′noncoding region of the bcl-6 gene in diffuse large B cell lymphomas

作　　者：周晓燕[1] 朱伟萍[1] 张太明[1] 李小妹[1] 金爱萍[1] 孙孟红[1] 朱雄增[1] 

机构地区：[1]复旦大学附属肿瘤医院分子病理研究室,上海200032

出　　处：《中华病理学杂志》2003年第1期10-13,共4页Chinese Journal of Pathology

基　　金：国家自然科学基金资助项目 ( 3990 0 0 65 )

摘　　要：目的　观察中国人弥漫性大B细胞淋巴瘤 (DLBCL)中bcl 6基因 5′非编码区的突变情况 ,并探讨其作用。方法　选用bcl 6基因 5′非编码区的高频突变区 2对引物 ,对 3 8例DLBCL、2例淋巴结反应性增生、5例滤泡性淋巴瘤及 5例T细胞淋巴瘤标本 ,于显微镜下提取淋巴瘤细胞 ,做聚合酶链反应 (PCR)、直接测序分析。结果　在 2例淋巴结反应增生的边缘区、5例T细胞淋巴瘤及 5例滤泡性淋巴瘤中均未发现有该范围内的突变 ,1例反应性增生的生发中心细胞中有突变 ,3 8例DLBCL中 7例 ( 18.4% )有突变。突变类型主要是碱基替代和点插入。结论　在中国人DLBCL中bcl 6非编码区的突变阳性率较低 (与国外资料比较 ) 。Objective To observe the mutation of 5′noncoding region of bcl-6 gene in diffuse large B cell lymphoma (DLBCL) and its effect on lymphoma pathogenesis. Methods 38 DLBCL, 2 reactive hyperplasias , 5 follicular lymphomas and 5 T cell lymphomas were chosen for PCR direct sequence analysis using two sets of primers in 5′noncoding region of the bcl-6 gene. Results No mutation was found in the marginal region of reactive hyperplasias, T cell lymphomas, and follicular lymphomas but detected in 1/2 of the follicular center cells, and 7/38 cases of DLBCL. The incidence is less than that seen in other reports. Basepairs substitution and point insertion were the main mutation types. Conclusions The positive rate of mutation of 5′noncoding region of bcl-6 gene in DLBCL is 18.7%, less frequent than the published data of DLBCL reported in other countries. It may, in some extent, participate in the pathogenesis and progression of DLBCL.

关 键 词：弥漫性大B细胞淋巴瘤 BCL-6基因 基因突变 化疗 PCR 

分 类 号：R733.1[医药卫生—肿瘤]