163例儿童急性淋巴细胞白血病细胞遗传学特征  

Cytogenetic Characteristics of 163 Children with Acute Lymphoblastic Leukemia

作　　者：郭晓红[1] 翟晓文[2] 钱晓文[2] 王宏胜[2] 范翠青[1] 

机构地区：[1]复旦大学附属儿科医院儿科研究所,上海201102 [2]复旦大学附属儿科医院血液科,上海201102

出　　处：《中国实验血液学杂志》2015年第2期312-317,共6页Journal of Experimental Hematology

摘　　要：目的:了解儿童急性淋巴细胞白血病的细胞遗传学特征。方法:通过骨髓染色体核型分析和荧光原位杂交检测,对163例初诊急性淋巴细胞白血病儿童(0-17岁)进行细胞遗传学分型。结果:本组病例细胞遗传学异常率87.7%(143/163)。倍体群分析显示,最常见高超二倍体(51-67条染色体)45例(27.6%),X染色体和21号染色体获得率为100%。特异性基因异常最常见t(12;21)ETV6/RUNX1(26例,16.0%),其次是t(1;19)TCF3/PBX1(13例,8.0%),t(4;11)MLL重排和t(8;14)IGH/MYC(各6例,3.7%),t(9;22)BCR/ABL(2例,1.2%)和i AMP21(1例,0.6%)。非典型结构异常率为:dup(1q)20.2%,del(6q)和del(9p)10.4%,del(12p)12.9%和del(13q)5.5%等。与西方儿童比较,t(12;21)、t(1;19)、t(9;22)和高超二倍体的发生率均较一致(P>0.25)。与韩国儿童比较,t(9;22)的发生率似乎更低(1.5%vs 9.5%)(P<0.005)。结论:本组急性淋巴细胞白血病儿童的细胞遗传学异常表现与西方儿童基本相似,风险可能不高。Objective： To further understand the cytogenetic characteristics of pediatric acute lymphoblastic leukemia （ALL）. Methods：Cytogenetic abnormalities of 163 children with newly diagnosed ALL （0 - 17 years of age） were evaluated by conventional cytogenetic analysis and fluorescent in situ hybridization findings. Results： Chromosome abnormalities were detected in 87.7% of patients （ 143/163 ）. The ploidy levels most frequently observed among ALL patients were high hyperdiploidy （51 -67 chromosomes） （45 cases, 27.6 % ）, Chromosomes X and 21 were gained in 100% of these cases. The most common genetic alterations were t （12; 21 ）/ETV6/RUNX1 （26 cases, 16.0% ）, followed by t （ 1 ; 19 ）/TCF3/PBX1 （ 13 patients, 8.0 % ）, t （4; 11 ）/MLL rearrangement and t （ 8 ; 14 ） IGH/MYC （ 6 cases, 3.7% ）, t（9;22）/BCR/ABL（2 cases, 1.2% ）, and iAMP21 （ 1 patient, 0.6% ）. The no-classical structural abnormalities included dup（lq） in 20.2%, del（6q） and del（9p） in 10.4%, del（12p） in 12.9% and del（13q） in 5.5 %. The incidences of t （ 12 ;21 ）, t （ 1 ; 19 ） , t （ 9 ;22） and high hyperdiploidy were consistent with reports in Western children （ P 〉 0.25 ）. The incidence of （9 ; 22 ） seemed to be much lower in our study than that in Korea （ 1.5 % vs 9.5%, P 〈 0. 005 ）. Conclusion： Cytogenetic findings of childhood ALL patients are similar to that of Western countries, it seems no more adverse risk factors.

关 键 词：儿童急性淋巴细胞白血病 细胞遗传学 荧光原位杂交 

分 类 号：R733.71[医药卫生—肿瘤]