PAX5缺失对于儿童无特殊重现染色体异常B系急性淋巴细胞白血病的预后意义  

Significance of PAX5 deletion in childhood B-lineage acute lymphoblastic leukemia without reproducible chromosomal abnormalities

作　　者：刘晓明[1] 张丽[1] 阮敏[1] 刘天峰[1] 张家源[1] 刘芳 戚本泉[1] 陈晓娟[1] 王书春[1] 杨文钰[1] 郭晔[1] 邹尧[1] 陈玉梅[1] 竺晓凡[1] 

机构地区：[1]中国医学科学院北京协和医学院/血液病医院血液学研究所/儿童血液病诊疗中心,天津300020

出　　处：《中国当代儿科杂志》2016年第4期287-291,共5页Chinese Journal of Contemporary Pediatrics

基　　金：天津市科技支撑计划(12ZCDZSY18100);国家自然科学基金项目(81470339;81170470)

摘　　要：目的初步了解PAX5缺失在无特殊重现染色体异常的B系急性淋巴细胞白血病(B-ALL)患儿中的发生情况,并进一步分析PAX5基因缺失与ALL预后的相关性。方法用多重连接探针扩增(MLPA)技术检测2008年4月至2013年4月初诊无特殊重现染色体异常的B-ALL患儿及对照组(同期非血液系统疾病及肿瘤儿童)的PAX5基因拷贝数情况。根据有无PAX5基因缺失分为缺失组和非缺失组。结果 86例患儿中18例(21%)发生了PAX5缺失。缺失组初诊时白细胞总数明显高于非缺失组(P=0.001)。Kaplan-Meier法分析显示:缺失组无病生存(DFS)率明显低于非缺失组(0.69±0.12 vs 0.90±0.04,P=0.017),但两组患儿的总生存(OS)率差异无统计学意义(P=0.128)。Cox法分析显示,PAX5缺失为影响DFS的不利因素(P=0.03)。结论 PAX5缺失为无特殊重现染色体异常B-ALL患儿DFS的独立危险因素。Objective To identify the incidence of PAX5 deletion in childhood B-lineage acute lymphoblastic leukemia（B-ALL） without reproducible chromosomal abnormalities and to investigate the association between PAX5 abnormalities and prognosis of ALL. Methods Multiplex ligation-dependent probe amplification was used to determine the copy numbers of PAX5 gene in children newly diagnosed with B-ALL without reproducible chromosomal abnormalities between April 2008 and April 2013 and controls（children with non-hematologic diseases or tumors）. The patients were classifiied into deletion group and non-deletion group based on the presence of PAX5 deletion. Results Eighteen（21%） out of 86 children with B-ALL had PAX5 deletion. The deletion group had a significantly higher total white blood cell count at diagnosis than the non-deletion group（P=0.001）. The Kaplan-Meier analysis demonstrated that the deletion group had a significantly lower disease-free survival（DFS） rate than the non-deletion group（0.69±0.12 vs 0.90±0.04; P=0.017）, but there was no significant difference in the overall survival rate between the two groups（P=0.128）. The Cox analysis showed that PAX5 deletion was a risk factor for DFS（P=0.03）. Conclusions PAX5 deletion is an independent risk factor for DFS in B-ALL children without reproducible chromosomal abnormalities.

关 键 词：PAX5 B-急性淋巴细胞白血病 多重连接探针扩增 预后 儿童 

分 类 号：R733.71[医药卫生—肿瘤]