儿童伯基特淋巴瘤遗传学异常与临床关系的研究  

Genetic abnormalities and their relationship with the clinical features in pediatric Burkitt lymphoma

作　　者：王苗[1] 苏里亚[2] 杨文萍[3] 吕蓓蓓[1] 宫丽平[1] 

机构地区：[1]首都医科大学基础医学院病理学系,北京100069 [2]卫生部北京医院超声科 [3]江西省儿童医院病理科

出　　处：《白血病．淋巴瘤》2013年第4期197-201,共5页Journal of Leukemia & Lymphoma

基　　金：国家自然科学基金（81001054）

摘　　要：目的从基因组水平探讨儿童伯基特淋巴瘤（BL）的分子遗传学异常及发病机制。方法利用免疫组织化学及荧光原位杂交技术对21例儿童BL病例进行免疫表型、分子遗传学及EB病毒（EBV）感染的检测；采用阵列比较基因组杂交（aCGH）技术对21例BL患儿的全基因组遗传物质的获得或缺失进行检测，分析aCGH检测结果与BL患儿的EBV感染的相关性。结果90．5％（19／21）的BL患儿存在染色体水平的改变，并且染色体的获得多于缺失。其中超过40％的病例存在小片段DNA的获得，部位为3q21．1、5p13．2、19q13．32、12@3．1、14q32．33、6q27、20p13、20p11．21。42．9％（9／21）的患儿存在14q24．2大片段DNA的获得，42．9％（9／21）的患儿存在14q32．33大片段DNA缺失。EBV（＋）和EBV（-）两组染色体的改变差异无统计学意义（P≥0．05）。结论BL患儿中存在着较为复杂的分子遗传学变化，EBV（＋）和EBV（-）BL之间染色体片段的改变无差异。大部分BL病例存在14q大片段的DNA缺失与获得，其可能与BL的发病机制关系密切。Objective To analyze the molecular cytogenetic abnormalities and pathogenesis of pediatric Burkitt lymphoma （BL） by array comparative genomic hybridization （aCGH）. Methods First, immunophenotype, molecular genetics and EB virus （EBV） infection status were detected using immunohistochemistry and fluorescence in situ hybridization in 21 pediatric BL patients. Second, in addition to detecting genome-wide genetic gain/deletion status, aCGH results with EBV infection status were also correlated. Results aCGH results showed genetic alterations in 19 cases （90.5 %）. Generally, frequency of chromosomal gain was higher than chromosomal deletion. The regions of frequently-occurring small DNA genomic fragment gains （I〉40 % cases） were 3q21.1, 5p13.2, 19q13.32, 12@3.1, 14q32.33, 6q27, 20p13 and 20p11.21. Large DNA fragment gains and deletions could be detected in 42.9 % （9/21） cases in the 14@4.2 and 1gq32.33 regions. There was no significant difference in genetic alterations between EBV （＋） and EBV （-） BL cases （P〉~O.05）. Conclusion aCGH results show that BL cases have complex genetic alterations,which have no significant difference between EBV（＋） and EBV（-） cases. Most BL cases show large DNA segment deletion or acquisition of lgq, indicating that 14q gene alteration plays an important role in the pathogenesis of BL.

关 键 词：伯基特淋巴瘤 比较基因组杂交 EB病毒 儿童 

分 类 号：R733[医药卫生—肿瘤]