CAJ | 학술논문

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、12q23.1、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.
목적 종기인조수평탐토인동백기특림파류(BL)적분자유전학이상급발병궤제.방법 이용면역조직화학급형광원위잡교기술대21례인동BL병례진행면역표형、분자유전학급EB병독(EBV)감염적검측；채용진렬비교기인조잡교(aCGH)기술대21례BL환인적전기인조유전물질적획득혹결실진행검측,분석aCGH검측결과여BL환인적EBV감염적상관성.결과 90.5％(19/21)적BL환인존재염색체수평적개변,병차염색체적획득다우결실.기중초과40％적병례존재소편단DNA적획득,부위위3q21.1、5p13.2、19q13.32、12q23.1、14q32.33、6q27、20p13、20p11.21.42.9％(9/21)적환인존재14q24.2대편단DNA적획득,42.9％(9/21)적환인존재14q32.33대편단DNA결실.EBV(+)화EBV(-)량조염색체적개변차이무통계학의의(P≥0.05).결론 BL환인중존재착교위복잡적분자유전학변화,EBV(+)화EBV(-)BL지간염색체편단적개변무차이.대부분BL병례존재14q대편단적DNA결실여획득,기가능여BL적발병궤제관계밀절.
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 (≥40 ％ cases) were 3q21.1,5p13.2,19q13.32,12q23.1,14q32.33,6q27,20p13 and 20p11.21.Large DNA fragment gains and deletions could be detected in 42.9 ％ (9/21) cases in the 14q24.2 and 14q32.33 regions.There was no significant difference in genetic alterations between EBV (+) and EBV (-) BL cases (P≥0.05).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 14q,indicating that 14q gene alteration plays an important role in the pathogenesis of BL.