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①目的 探讨采用筑巢式聚合酶链反应(Nest-PCR)等多项指标监测小儿急性白血病(AL)微量残留病(MRD)的临床意义。②方法 对152 例AL在形态学、免疫学和细胞遗传学(MIC)分型诊断的基础上,结合Nest-PCR,姐妹染色单体交换(SCE)、染色体核型分析方法进行MRD监测。③结果 对58 例急性淋巴细胞白血病(ALL)进行了T细胞受体(TCR)Vδ2Dδ3 基因重排监测,其中83% 的B-ALL和25% 的T-ALL具有此基因重排,检测灵敏度为10- 5~10- 6 .对44 例ALL进行了MRD动态监测,结果显示化疗期间PCR由阴性转为阳性或持续阳性者,易引起骨髓复发、死亡。PCR转阴时间有明显个体差异性。持续完全缓解3 年以上的ALL病儿PCR持续阴性可作为停药治疗的可靠指标。对76 例AL进行了SCE动态监测,结果表明SCE频率变化与疾病的严重程度呈平行关系。对61 例AL进行了染色体核型动态监测,结果表明初发AL染色体核型正常者亦有DNA 严重损伤。④结论 在MIC分型诊断的基础上,采用Nest-PCR,SCE,染色体核型分析等多项指标进行AL的MRD动态监测、综合分析评价,对指导治疗、预测复发及判断
(1) Objective To investigate the clinical significance of monitoring trace residual disease (MRD) in children with acute leukemia (AL) by using Nest-PCR and other indexes. Methods 152 cases of AL were diagnosed by morphology, immunology and cytogenetics (MIC) based on the combination of Nest-PCR, sister chromatid exchange (SCE), chromosome karyotype analysis method MRD monitoring. Results The rearrangement of T cell receptor (TCR) Vδ2Dδ3 gene was performed in 58 cases of acute lymphoblastic leukemia (ALL). 83% of B-ALL and 25% of T-ALL had this gene rearrangement. The detection sensitivity was 10-5 ~ 10-6. Forty-four ALL patients underwent MRD dynamic monitoring. The results showed that PCR negative to positive or persistent PCR during chemotherapy led to bone marrow recurrence and death. PCR negative time obvious individual differences. Persistent complete response to more than 3 years of ALL children with persistent persistent PCR can be used as a reliable indicator of treatment discontinuation. 76 cases of AL were SCE dynamic monitoring results show that the frequency of SCE and the severity of the disease was parallel. Chromosomal karyotypes were dynamically monitored in 61 cases of AL. The results showed that there was DNA damage in patients with normal AL karyotype. ④ Conclusion On the basis of MIC classification diagnosis, MRD dynamic monitoring of AL was performed by using Nest-PCR, SCE and chromosomal karyotyping, and comprehensive analysis and evaluation were conducted to guide the treatment, predict relapse and judge