基因扫描在初诊急性淋巴细胞白血病患儿Ig/TCR基因重排克隆性分析中的应用  

The application and significance of gene scanning in the clonality analysis of Ig/TCR gene rearrangements in new cases of acute lymphocytic leukemia

作　　者：林慧玲[1] 李彦媚[1] 叶铁真[1] 李焱[1] 朱欢欢[1] 江利宜[1] 

机构地区：[1]广州医学院附属广州市妇女儿童医疗中心血液肿瘤科,广州510623

出　　处：《中华检验医学杂志》2013年第3期228-232,共5页Chinese Journal of Laboratory Medicine

摘　　要：目的探讨基因扫描技术在初诊急性淋巴细胞白血病（ALL）患儿Ig／TCR基因重排克隆性分析中的作用，并探讨Ig／TCR基因重排的类型及其克隆性与ALL临床特征之间的关系。方法本研究为临床实验研究。选取2009年3月至2011年3月广州市妇女儿童医疗中心血液肿瘤科确诊和治疗的ALL患儿86例，所有病例均经骨髓细胞形态学和流式细胞术免疫分型诊断。采用多重PCR方法检测初诊ALL患儿的4种Ig/TCR基因重排（IgH、IgK、TCRγ和TCRδ），采用基因扫描技术对上述基因重排进行克隆特性分析。采用χ^2检验比较ALL患者主要临床特征在单克隆及寡克隆Ig/TCR基因重排之间的差异。结果86例初诊ALL患儿中，83例（96．5％）可检出1种或1种以上Ig/TCR基因重排，平均每例可检出2．52个基因重排；61例进行基因扫描的患儿中，56例（91．8％）可检出1种或1种以上单克隆性Ig/TCR基因重排；172个Ig/TCR基因重排中，IgH、IgK、TCRγ和TCRδ的比例分别为27．9％、27．9％、19．8％和24．4％。单克隆、寡克隆及多克隆性的构成比分别为58．1％、30．8％和11．1％，以单克隆性重排为主。4种Ig/TCR基因重排类型的单克隆性及寡克隆性在不同临床特征问差异无统计学意义（P值均〉0．05）。结论基因扫描可简便、快捷地分析Ig/TCR基因重排的克隆性，从而可选择其中单克隆或寡克隆者作为微小残留白血病（MRD）追踪的靶目标；ALL患儿的临床特征与Ig／TCR基因重排的类型及其克隆性无关。（中华检验医学杂志，2013．36：228-232）Objective To study the role of gene Scanning in the clonality analysis of Ig/TCR gene rearrangement in children with newly diagnosed acute lymphoblastie leukemia （ALL） , and the relationship between the clinical characteristics of ALL and the type of Ig/TCR gene rearrangement. Methods The research was the clinical experimental study. Selected 86 cases of children with ALL who were diagnosed and treated in Department of Hematology-oncology of Guangzhou Women and Children＇s Medical Center, and All cases were confirmed by bone marrow cell morphology and flow cytometric immunophenotyping. Used multiplex PCR to detecte Ig/TCR gene rearrangements in children with newly diagnosed ALL. Applied gene scanning to analyze the clonality of Ig/TCR gene rearrangement. Results There were 83 cases detected 1 or more than 1 types of Ig/TCR gene rearrangements in 86 cases （96. 5% ）, with 2. 52 types each case. There were 56 cases detected at least one monoclonal Ig/TCR gene rearrangement in 61 cases analyzed by gene scanning （91.8%）. The detectable rate for IgH, Igk, TCRγ and TCRδ were 27.91%, 27.91%, 19. 77% and 24.42% respectively in 172 of Ig/TCR gene rearrangement. Monoclonal, oligoclonal and polyclonal composition was 58.1%, 30. 8% and 11.1% respectively, the monoclonal as the main component. There was no significant difference between the types and clonality of Ig/TCR gene rearrangement and the clinical characteristics of children with newly diagnosed ALL （P 〉 0. 05 ）. Conclusions Gene scanning can analyze clonality of the Ig/TCR gene rearrangement conveniently and rapidly, thus, it can be possible to select the stable targets for quantitative detection of minimal residual disease minimal residual disease. There is no significant difference between the types and clonality of Ig/TCR gene rearrangement and clinical characteristics of children with newly diagnosed. （Chin J Lab Med, 2013,36：228-232）

关 键 词：前体细胞淋巴母细胞白血病淋巴瘤 基因重排 T淋巴细胞 克隆细胞 肿瘤 残余 

分 类 号：R733.7[医药卫生—肿瘤]