基于新生儿脐血TEL-AML1融合基因检测的儿童急性白血病筛查体系的建立及意义

  目的  建立以检测新生儿脐血TEL-AML1融合基因为基础的儿童急性淋巴细胞白血病早期筛查体系，并探讨其临床意义。  方法  首先通过问卷调查，筛选出具有发生儿童急性白血病高危因素的人群，随后收集高危新生儿出生时脐血，并于12～24 h内提取脐血单个核细胞mRNA，采用RT-PCR方法检测脐血TEL-AML1融合基因，从而构建筛查体系，并分析该筛查体系的可行性及有效率、实用性。  结果  共筛选出高危人群231例，其中男118例（51.1%），女113例（48.9%）；经RT-PCR方法检测TEL-AML1融合基因均为阴性，平均耗费时长为（12.3±0.6） h，平均费用为200元，患者满意度及接受率均为100%。  结论  基于新生儿脐血TEL-AML1融合基因检测而建立的儿童急性淋巴细胞白血病早期筛查体系，在理论上具有科学性，在临床上具有可行性，为临床上开展早期筛查儿童急性淋巴细胞白血病提供依据。

Establishment and Significance of Screening System for Acute Leukemia in Children Based on Detection of TEL-AML1 Fusion Gene in Neonatal Cord Blood

  Objective  To establish an early screening system for childhood acute lymphoblastic leukemia based on the detection of TEL-AML1 fusion gene in neonatal umbilical cord blood and to explore its clinical significance.   Methods  First, the newborn with high risk factors of childhood acute leukemia was screened through questionnaire survey. Then, the umbilical cord blood of high-risk neonates at birth was collected and the mRNA of umbilical cord blood mononuclear cells was extracted within 12 to 24 hours. The TEL-AML1 fusion gene in umbilical cord blood was detected by RT-PCR, so as to build a screening system and analyze the feasibility, efficiency and practicality of the screening system.   Results  231 cases of high-risk population were screened, including 118 males （51.1%） and 113 females （48.9%）. The TEL-AML1 fusion gene was negative by RT-PCR. The average time spent was （12.3±0.6） hours. The average cost was 200RMB and the satisfaction rate and acceptance rate of patient were both 100%.   Conclusion  The early screening system for childhood acute lymphoblastic leukemia based on the detection of TEL-AML1 fusion gene in neonatal umbilical cord blood is scientific in theory and feasible in clinical practice, which provides a basis for early screening of childhood acute lymphoblastic leukemia in clinical practice.