儿童急性髓系白血病FLT3-ITD突变分析及其临床意义  

Clinical significance of FLT3-ITD mutation in children with acute myeloid leukemia

作　　者：易丽君[1] 黄慧[1] 郭智彬[1] 周菁[1] 胡清华[1] 李红[1] 

机构地区：[1]江西省儿童医院中心实验室,南昌330006

出　　处：《江西医药》2017年第11期1128-1131,共4页Jiangxi Medical Journal

基　　金：国家自然科学基金;编号31500653;江西省科技厅重大项目;编号2013BBG70023;江西省卫计委科技计划项目;编号:20161121

摘　　要：目的探讨FLT3-ITD在AML患儿的临床意义。方法收集我院2013年-2015年收治的45例AML患儿骨髓样本,提取全基因组DNA,采用PCR扩增产物克隆测序法检测FLT3-ITD基因突变情况,解析序列,整理并分析其插入的重复序列,同时分析FLT3-ITD阳性患儿的临床特征及对预后的影响。结果 45例初诊AML患儿中,FLT3-ITD突变阳性患儿4例(8.9%),表现为杂合突变和纯合突变,解析出4条插入序列,插入长度范围为18-99bp。阳性患儿伴染色体正常核型1例,异常核型3例,突变型患儿白细胞及骨髓原始细胞比例高于野生型患儿,差异有统计学意义,但在性别、年龄、血红蛋白、血小板无显著差异。结论 FLT3-ITD突变检测有助于急性白血病基因分型,是儿童AML预后不良的一个危险因素,可作为预后的分子标志物。Objective To analyze FLT3 mutation-internal tandem duplication（FLT3-ITD） in acute myeloid leukemia（AML）patients,and explore the significance of FLT3-ITD in diagnose and genotyping of AML. Methods Polymerase chain reaction（PCR） was used to detect the FLT3 and FLT3-ITD in 45 children with acute myeloid leukemia. The abnormal PCR products were cloned into T vector to sequence. The insertions were analyzed. Results FLT3 mutations were found in 4 patients among 45 AML patients. There is no difference in age,gender,HB and PLT between AML patients with and without FLT3 mutation（P〉0.05） and significant difference in WBC. Children with FLT3-ITD the incidence of FLT3 mutation in children AML is 8.9% with heterozygous or homozygous. Conclusion Children with FLT3-ITD can contribute to the classification of AML and it was associated with poor prognosis and might be a prognostic molecular marker of AML.

关 键 词：急性髓系白血病 FMS酪氨酸激酶3 内部串联重复 预后 

分 类 号：R733.71[医药卫生—肿瘤]