儿童急性淋巴细胞白血病单中心分子细胞遗传学与临床特征分析  

Molecular cytogenetics and clinical features analysis of children with acute lymphoblastic leukemia:a single-center study

作　　者：刘青[1] 蒋慧[1] 李红[1] 邵静波[1] 陈凯[1] 夏敏[2] 孙恒娟[2] 王真[1] 张娜[1] 朱嘉莳[1] Liu Qing;Jiang Hui;Li Hong;Shao Jingbo;Chen Kai;Xia Min;Sun Hengjuan;Wang Zhen;Zhang Na;Zhu Jiashi(Department of Hematology and Oncology,Shanghai Children′s Hospital,Children′s Hospital Affiliated to Shanghai Jiaotong University,Shanghai 200040,China;Department of Clinical Laboratory,Shanghai Children′s Hospital,Children′s Hospital Affiliated to Shanghai Jiaotong University,Shanghai 200040,China)

机构地区：[1]上海市儿童医院,上海交通大学附属儿童医院血液肿瘤科,200040 [2]上海市儿童医院,上海交通大学附属儿童医院检验科,200040

出　　处：《中华实用儿科临床杂志》2020年第15期1152-1156,共5页Chinese Journal of Applied Clinical Pediatrics

基　　金：上海市卫生健康委员会科研项目(20194Y0112)。

摘　　要：目的分析儿童初发急性淋巴细胞白血病(ALL)分子细胞遗传学异常及其与临床特征的关系。方法以2009年1月至2018年12月上海市儿童医院血液科确诊的初发ALL患儿403例为研究对象,完善骨髓涂片细胞学、免疫分型、染色体核型分析、荧光原位杂交(FISH)等。结果 1.403例患儿中,男240例(59.6%),女163例(40.4%);年龄(5.31±3.46)岁;急性B淋巴细胞白血病(B-ALL)374例(92.8%),急性T淋巴细胞白血病(T-ALL) 29例(7.2%)。2.细胞遗传学:染色体核型分析有分裂相者311例(77.2%),异常者126例,异常检出率40.5%,其中高超二倍体和超二倍体占15.4%(48/311例)。3.融合基因:融合基因阳性者110例(27.3%),其中TEL/AML1 70例(17.4%)、BCR/ABL 13例(3.2%)、MLL 19例(4.7%),2015年至2018年检出PBX1/TCF3 8例(4.0%),EBF1-PDGFRB 1例(0.5%),SIL/TAL1 6例,占T-ALL的33.3%(6/18例),提高了T-ALL分子异常检出率;BCR/ABL阳性患儿年龄大于MLL、TEL/AML1阳性患儿[(8.01±3.11)岁比(3.89±1.84)岁、(1.56±1.25)岁,P<0.001];PBX1/TCF3阳性患儿年龄[(6.58±4.83)岁]大于TEL/AML1、MLL阳性患儿(均P<0.05);MLL阳性患儿年龄小于TEL/AML1阳性患儿[(1.56±1.25)岁比(3.89±1.84)岁,P=0.001];MLL阳性患儿初发时的白细胞数高于TEL/AML1、BCR/ABL阳性患儿[(76.97±19.87)×109/L比(16.94±2.28)×109/L、(20.53±6.49)×109/L,P<0.05];PBX1/TCF3阳性患儿初发时的白细胞数高于TEL/AML1阳性患儿[(85.75±30.32)×109/L比(16.94±2.28)×109/L,P=0.002];MLL阳性患儿免疫分型以早前B-ALL为主(14/19例),TEL/AML1阳性、BCR/ABL阳性患儿均以普通B-ALL为主(57/70例、11/15例)。4.染色体核型分析、FISH、PCR3种方法对初发ALL患儿分子遗传学异常检出率分别为40.5%(126/403例)、69.2%(279/403例)、29.7%(60/202例),差异有统计学意义(P<0.001);染色体核型分析与PCR异常检测率差异无统计学意义(P=0.71)。5.不同性别及年龄组分子细胞遗传学异常检出率差异均无统计学意义(P=0.651、0.721),而初发时的白细�Objective To analyze the relationship between molecular cytogenetic abnormalities and clinical characteristics of acute lymphoblastic leukemia(ALL)in childhood.Methods A total of 403 patients newly diagnosed with ALL in the Department of Hematology,Shanghai Children′s Hospital from January 2009 to December 2018 were enrolled in this study.All the patients had completed the test of bone marrow smear cytology,immunotyping,karyotype analysis,and fluorescence in situ hybridization(FISH).Results(1)There were 240 males(59.6%)and 163 females(40.4%)aged(5.31±3.46)years.There were 374 patients(92.8%)with B cell acute lymphoblastic leukemia(B-ALL)and 29 patients(7.2%)with T cell acute lymphoblastic leukemia(T-ALL).(2)Cytogenetics:A total of 311 cases(77.2%)showed mitosis in the chromosomal karyotype analysis,of which 126 cases were abnormal(abnormality detection rate was 40.5%),including 15.4%(48/311cases)hyperdiploid.(3)Fusion gene:Positive fusion genes were found in 110 cases(27.3%),including TEL/AML1 gene in 70 cases(17.4%),BCR/ABL in 13 cases(3.2%),MLL in 19 cases(4.7%).From 2015-2018,8 cases(4.0%)of PBX1/TCF3 fusion gene,1 case of EBF1-PDGFRB fusion gene,6 cases of SIL/TAL1 fusion gene were detected,SIL/TAL1 positive patients which were accounting for 33.3%of T-ALL improved the detection rate of T-ALL molecular abnormalities.Patients with positive BCR/ABL were older than those with positive TEL/AML1 and positive MLL[(8.01±3.11)years vs.(3.89±1.84)years,(1.56±1.25)years,P<0.001];patients with positive PBX1/TCF3[6.58±4.83)years]were older than those with positive TEL/AML1 and positive MLL(all P<0.05);patients with positive MLL were younger than those with positive TEL/AML1[(1.56±1.25)years vs.(3.89±1.84)years,P=0.001];the white blood cell(WBC)count of positive MLL patients was higher than that of positive TEL/AML1 and positive BCR/ABL patients[(76.97±19.87)×109/L vs.(16.94±2.28)×109/L,P=0.002;(76.97±19.87)×109/L vs.(20.53±6.49)×109/L,P<0.05];the WBC count of PBX1/TCF3 positive children was higher than t

关 键 词：急性淋巴细胞白血病 分子细胞遗传学 临床特征 儿童 

分 类 号：R733.71[医药卫生—肿瘤]