E2A/PBX1融合基因阳性儿童急性淋巴细胞性白血病的临床特点及预后分析  

Clinical features and implications of childhood acute lymphoblastic leukemia with E2A/PBX1 fusion gene

作　　者：庞丽[1] 赵文理[1] 车琳[1] 郭豆豆[1] 潘健[2] 何海龙[1] 邵雪君[3] 何亚香[3] 季正华[3] 

机构地区：[1]苏州大学附属儿童医院血液科,215003 [2]苏州大学附属儿童医院儿科研究所,215003 [3]苏州大学附属儿童医院检验科,215003

出　　处：《中华实用儿科临床杂志》2014年第3期199-202,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家卫生和计划生育委员会课题（W201301）;苏州大学基金科研预研项目（SDY2012B30）

摘　　要：目的 探讨E2A/PBX1融合基因阳性儿童急性淋巴细胞性白血病（ALL）的临床特点及预后.方法 采用巢式反转录-聚合酶链反应（RT-PCR）法对苏州大学附属儿童医院2007年1月至2011年12月初诊的450例ALL患儿骨髓进行E2A/PBXI融合基因检测.免疫分型为B淋巴细胞系的有420例（成熟B淋巴细胞除外）,其中20例表达E2A/PBX1（4.76％,20/420例）（E2A/PBX1阳性组）,按ALL危险度分级标准归入中危组;以同期初诊的E2A/PBX1融合基因阴性且危险分度相同的85例ALL患儿作为对照（E2A/PBX1阴性组）.比较2组的临床特点和5年无事件生存（EFS）率及总生存（OS）率.结果 E2A/PBXI阳性组与E2A/PBX1阴性组患儿在年龄、性别、初诊白细胞数和血红蛋白方面差异均无统计学意义（P均＞0.05）.E2A/PBX1阳性组患儿第33天微小残留病（MRD）数值较阴性组明显减低,2组比较差异有统计学意义（x2=15.78,P=0.001）.E2A/PBX1阳性组与E2A/PBX1阴性组ALL患儿5年EFS率分别为（84.4±15.6）％、（73.5±15.6）％,OS率分别为（86.0±17.6）％、（81.8±17.6）％;2组复发率分别为10.5％、12.9％,中位复发时间分别为（8.9±5.3）个月、（26.2±8.0）个月,差异均无统计学意义（P均＞0.05）.结论 E2A/PBX1融合基因阳性ALL患儿的预后与融合基因阴性且同危险度的ALL患儿无明显差异,是儿童B淋巴细胞系ALL临床危险分级的中等危险预后因素.Objeetive To explore the clinical features and prognosis in childhood acute lymphoblastic leukemia（ALL） with E2A/PBX1 fusion gene.Methods From Jan.2007 to Dec.2011,E2A/PBX1 fusion gene from bone marrow sample in 450 newly diagnosed childhood patients with ALL was evaluated by nested reverse transiption-poly-merase chain reaction （RT-PCR）.Cases with B-lineage ALL accounted for 4.76% （20/420 cases）.The patients with E2A/PBX1 gene were classified to the intermediate-risk group,and 85 cases with negative E2A/PBX1 gene were regarded as control group at the same time.Clinical characteristics,5-year event-free survivial （EFS） rate and overall survivial（OS） rate were compared between 2 groups.Results Statistic differences were not found in age,gender,initial white blood cell count,hemoglobin level between 2 groups （all P 〉 0.05）.Level of minimal residual disease （MRD）was lower in E2A/PBX1 fusion gene group than that in control group at day 33 of induction chemotherapy（x2 =15.78,P =0.001）.The 5-year EFS rates were （84.4 ± 15.6）% and （73.5 ± 15.6）%,respectively in 2 groups.The OS rates were （86.0 ± 17.6） % and （81.8 ± 17.6） %,respectively.The relapse rates were 10.5 % and 12.9% and the median times of relapse were（8.9 ± 5.3）months and （26.2 ± 8.0）months,respectively.There was no significant differences in EFS rates,OS rates,relapse rates and median times of relapse between 2 groups （all P 〉 0.05）.Conclusions There was no significant differences between the E2A/PBX1 gene group and control group.E2A/PBX1 fusion gene plays an intermediate-risk role in pediatric B-ALL.

关 键 词：白血病 淋巴细胞 急性 儿童 E2A PBX1融合基因 临床特点 预后 

分 类 号：R733.71[医药卫生—肿瘤]