早幼粒白血病维A酸受体α融合基因检测的临床意义  

Clinical Significance in Detection of Promyelocytic Leukemia-Retinoid Acid Receptor α Fusion Gene in Children

作　　者：赵玮[1] 李志刚[1] 吴敏媛[1] 耿兰增[1] 石惠文[1] 张永红[1] 谢静[1] 

机构地区：[1]首都医科大学附属北京儿童医院血液病中心,北京100045

出　　处：《实用儿科临床杂志》2005年第7期659-660,共2页Journal of Applied Clinical Pediatrics

摘　　要：目的探讨儿童早幼粒白血病维A酸受体α(PML-RARα)融合基因检测的临床意义.方法采用逆转录聚合酶链(RT-PCR)技术对35例经MIC分型为APL患儿行PML-RARα融合基因检测.诱导治疗主要采用全反式维A酸诱导分化,继以柔红霉素-阿糖胞苷(DA)、三尖杉酯碱-阿糖胞苷(HA)、柏林-法兰克福-慕尼黑(BFM)方案巩固治疗.结果 APL患儿35例均检测到PML-RARα融合基因.其中3例存在L型,21例同时存在L型+LV型,6例存在LV型,5例存在S型.检出率分别为L型68.6%,LV型77.1%,S型14.3%.系统治疗18例,均在14～50 d达到完全缓解(CR),其中5例检测PML-RARα融合基因,1例转阴,4例阳性,并在第3个月时转阴.14例随访至今,对其中6例巩固化疗患儿,微小残留病(MRD)的追踪检测,随访时间6～36个月,中位数为12个月,PML-RARα融合基因持续阴性,均处于CR状态.结论 RT-PCR检测PML-RARα融合基因,不仅具有诊断意义,而且可判断治疗效果、预测APL患者复发.Objective To investigate the clinical significance in the detection of promyelocytic leukemia-retinoid acid receptor α(PML-RARα) fusion gene in children with acute promyelocytic leukemia(APL).Methods RT-PCR was performed to detect PML-RARα fusion gene in 35 children diagnosed as APL according to MIC criteria. The patients were treated with protocol including induction of differentiation with ATRA followed by consolidation therapy with DA, HA or BFM protocol. Results PML-RARα fusion gene was detected in all the 35 children with APL. 3, 21, 6 and 5 patients carried L form, Lform +L form variants, L form variants and S form,respectively. The positive ratios of L form, L form variants and S form were 68.6%, 77.1%, 14.3% respectively. All the 18 patients treated systematically had complete remission(CR) in 14-50 days. In 5 patients who were screened for PML-RARα at this time, 1 patient was negative. The other 4 patients were positive, then they were all negative after the third month after initiation of chemotherapy. 14 patients were followed-up till February 2005. The duration of follow-up was 6 to 36 months in 6 patients, medium duration being 12 months. MRD findings were negative for PML-RARα fusion gene in these 6 patients with consolidation therapy, and they were all in CR.Conclusions Detection of PML-RARα fusion gene using RT-PCR is not only significant for diagnosis, but also helpful for evaluating prognosis and preventing relapse in children with APL.

关 键 词：白血病 早幼粒细胞 急性 融合其因 儿童 

分 类 号：R733.7[医药卫生—肿瘤]