云南地区儿童急性淋巴细胞白血病基因类型分析  

Leukemia Genotype Analysis of Children with Acute Lymphoblastic Leukemia in Yunnan Area

作　　者：世淑兰 奎莉越[1] 夏世梅 周百灵[1] 李荣杰 蒋鸿超[1] SHI Shu-Lan;KUI Li-Yue;XIA Shi-Mei;ZHOU Bai-Ling;LI Rong-Jie;JIANG Hong-Chao(Department of Clinical Laboratory,Kunming Children's Hospital(Yunnan Children's Medical Center),Kunming 650228,Yunnan Province,China)

机构地区：[1]昆明市儿童医院(云南省儿童医学中心)检验科,云南昆明650228

出　　处：《中国实验血液学杂志》2023年第4期980-984,共5页Journal of Experimental Hematology

基　　金：国家自然科学基金项目(81960033);云南省中青年学术和技术带头人(202005AC160066);昆明市科技计划项目(2019-1-S-25318000001171);昆明市卫生健康委员会卫生科研项目(2022-11-01-007)。

摘　　要：目的:通过分析云南地区428例急性淋巴细胞白血病(ALL)患儿43种白血病基因,为本地区ALL患儿的诊疗提供依据。方法:回顾性分析2015年1月-2020年12月云南地区428例初诊ALL患儿的临床资料,应用多重巢式PCR技术检测43种常见的白血病基因。结果:428例ALL患儿中白血病基因阳性159例,阳性率为37.15%(159/428),共检出15种白血病基因。159例白血病基因阳性患儿中,ETV6-RUNX1+率占比最高,为25.79%(41/159),其次为E2A-PBX1+和BCR-ABL+,分别占24.53%(39/159)和23.27%(37/159),MLL+率占6.29%(10/159),WT1+率占4.40%(7/159),IKZF1基因缺失及CRLF2+率均占3.77%(6/159)。>10岁组BCR-ABL+率最高(23.63%),1-10岁组ETV6-RUNX1+率最高(10.56%),<1岁组MLL+率最高(46.15%),不同年龄组白血病基因阳性率分布差异有统计学意义(P<0.05)。结论:云南地区ALL患儿常见的融合基因以ETV6-RUNX1为主,其次是E2A-PBX1、BCR-ABL。Objective:To analyze 43 leukemia genes in children with acute lymphoblastic leukemia(ALL)in Yunnan province,and provide the basis for the diagnosis and treatment of children with ALL in this area.Methods:The clinical data of 428 children with newly diagnosed ALL in Yunnan area from January 2015 to December 2020 were retrospectively analyzed.Multiple nested PCR technology was used to detect 43 common leukemia genes.Results:Among the 428 children with ALL,159 were positive for leukemia genes,with a positive rate of 37.15%(159/428),and a total of 15 leukemia genes were detected.Among the 159 leukemia gene-positive children,ETV6-RUNX1+accounted for 25.79%(41/159),followed by E2A-PBX1+and BCR-ABL+,accounting for 24.53%(39/159)and 23.27%(37/159)respectively.MLL+accounted for 6.29%(10/159),WT1+accounted for 4.40%(7/159),IKZF1 gene deletion and CRLF2+accounted for 3.77%(6/159)respectively.The positive rate of MLL(46.15%)was the highest in<1-year old group,the positive rate of ETV6-RUNX1(10.56%)was the highest in 1-10-year old group,and BCR-ABL+rate(23.65%)was the highest in>10-year old group.The distribution of leukemia genes in different age groups was statistically significant(P<0.05).Conclusion:The most common fusion gene of children with ALL in Yunnan is ETV6-RUNX1,followed by E2A-PBX1 and BCR-ABL.

关 键 词：白血病基因 急性淋巴细胞白血病 儿童 云南地区 

分 类 号：R733.71[医药卫生—肿瘤]