小儿急性淋巴细胞白血病IgH和Vδ_2Dδ_3基因重排的研究  

Research on IgH and Vδ 2Dδ 3 gene rearrangement in children with acute lymphoblastic leukemia

作　　者：林雯[1] 金润铭[1] 刘勤[1] 何美娟[1] 王平[1] 费洪宝[1] 

机构地区：[1]同济医科大学附属协和医院儿科

出　　处：《中国当代儿科杂志》1999年第2期65-68,共4页Chinese Journal of Contemporary Pediatrics

摘　　要：目的探讨ＩｇＨ和Ｖδ２Ｄδ３基因重排在初诊儿童急性淋巴细胞白血病（ＡＬＬ）中的分布频率及其在中枢神经系统白血病（ＣＮＳＬ）早期诊断与脑脊液（ＣＳＦ）微量残留病（ＭＲＤ）监测中的意义。方法对初诊ＡＬＬ患者的骨髓标本及不同病期ＣＳＦ标本采用聚合酶链反应（ＰＣＲ）检测ＩｇＨ基因重排和巢式聚合酶链反应（Ｎｅｓｔｅｄ－ＰＣＲ）检测Ｖδ２Ｄδ３基因重排。结果３２份ＡＬＬ患者骨髓标本中有２３份存在克隆特异性ＩｇＨ基因重排和／或Ｖδ２Ｄδ３基因重排。在骨髓标本存在异常基因重排的诱导缓解治疗期患儿的２３份ＣＳＦ中，９份检出Ｖδ２Ｄδ３基因重排，４份检出ＩｇＨ基因重排。而完全缓解期患儿的３７份ＣＳＦ中，３份检出ＩｇＨ基因重排，７份检出Ｖδ２Ｄδ３基因重排。结论在所检初诊ＡＬＬ患者的骨髓标本中，ＩｇＨ重排片段的阳性检出率为４７％，Ｖδ２Ｄδ３基因的阳性检出率为３８％；ＡＬＬ患者脑脊液中ＩｇＨ和Ｖδ２Ｄδ３基因重排的ＰＣＲ动态监测较ＣＳＦ常规、生化及细胞学检测更灵敏，更有助于ＣＮＳＬ的早期诊断，对ＣＮＳＬ的预防及预后的判断有指导意义。Objective The purpose of this paper was to study the distribution frequency of immunoglobulin heavy chain gene(IgH) and T cell receptor (TCR)Vδ 2Dδ 3 gene rearrangement in children with acute lymphoblastic leukemia(ALL) in the first visit and the significance in early diagnosis of central nervous system leukemia(CNSL) and monitoring of MRD in CSF.Methods PCR and Nested-PCR techniques were employed to amplify IgH and TCR Vδ 2Dδ 3 fragments from blast cells in bone marrow and from CSF of patients with ALL.Results Twenty three of 32 patients had IgH gene rearrangement and/or TCR Vδ 2Dδ 3 gene rearrangement in bone marrow samples.Nine of 23 CSF samples from patients during remission induction had TCR Vδ 2Dδ 3 gene rearrangement and 4 samples had IgH gene rearrangement. Three of 37 CSF samples from patients in complete remission had IgH gene rearrangement and 7 samples had Vδ 2Dδ 3 gene rearrangement.Conclusions The positive rate of IgH gene rearrangement is 47% and that of Vδ 2Dδ 3 gene rearrangement is 38% in detected samples of bone marrow. Dynamic detection of IgH and Vδ 2Dδ 3 gene rearrangements in CSF of ALL patients by PCR techniques is an effective tool for early clinical diagnosis of CNSL and much more sensitive than CSF routine examination.It plays a guiding role in prevention and prognosis evaluation of CNSL.

关 键 词：基因重排 CSF 骨髓 患者 初诊 CNSL 检出 标本 分布频率 NESTED-PCR 

分 类 号：R733[医药卫生—肿瘤] R446[医药卫生—临床医学]