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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 To investigate the distribution of IgH and Vδ2δδδ gene rearrangements in newly diagnosed childhood acute lymphoblastic leukemia (ALL) and their significance in the early diagnosis of CNSL and the monitoring of cerebrospinal fluid (CSF) micro-residual disease (MRD). Methods Vδ2Dδ3 gene rearrangements were detected by polymerase chain reaction (PCR) for IgH gene rearrangement and nested polymerase chain reaction (Nested-PCR) in newly diagnosed ALL patients with bone marrow samples and CSF samples at different stages. RESULTS: Twenty-three of 32 ALL patients had clone-specific IgH gene rearrangements and / or Vδ2Dδ3 gene rearrangements. Of the 23 CSFs in the treatment-induced remissions with abnormal gene rearrangements in bone marrow samples, 9 were detected Vδ2Dδ3 gene rearrangements and 4 were detected IgH gene rearrangements. Of the 37 CSFs in complete remission, 3 detected IgH gene rearrangements and 7 detected Vδ2Dδ3 gene rearrangements. Conclusions The positive detection rate of IgH rearrangement fragment in bone marrow samples of newly diagnosed ALL patients was 47%, and the positive detection rate of Vδ2Dδ3 gene was 38%. PCR dynamic monitoring of CSF IgH and Vδ2Dδ3 gene rearrangements in ALL patients It is more sensitive than CSF routine, biochemical and cytological tests, and more conducive to the early diagnosis of CNSL, which is instructive for the prevention and prognosis of CNSL.