21例伴有AML1/ETO融合基因表达的儿童急性非淋巴细胞白血病的分析  

Analysis of 21 children with acute non-lymphoid leukemia carrying AML1/ETO fusion gene

作　　者：赵玮[1] 李志刚[1] 吴敏媛[1] 耿兰增[1] 石慧文[1] 张永红[1] 吴润晖[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,100045

出　　处：《中华儿科杂志》2003年第5期325-328,共4页Chinese Journal of Pediatrics

摘　　要：目的　对急性髓细胞性白血病 1(AML1) /ETO(eighttwentyone)融合基因阳性及阴性的两组病例的主要临床指标进行比较分析 ,并探讨AML1/ETO融合基因检测在儿童急性非淋巴细胞白血病 (ANLL)的临床诊断及预后判断中的意义。方法　采用巢式逆转录聚合酶链反应 (RT PCR) )检测白血病患儿AML1/ETO融合基因 ,并进行法 美 英 (FAB)及形态学 免疫学 细胞遗传学 (MIC)分型。诱导治疗主要采用柔红霉素、阿糖胞苷 (DA)、DA +依托泊甙 (足叶乙甙 ,DAE)、柏林 法兰克福 慕尼黑(BFM)方案。结果　在 2 1例AML1/ETO融合基因表达的ANLL中 ,经FAB及MIC分型 ,17例为急性粒细胞白血病部分分化型 (M2 ) ,占 81% ,另外 4例分别是骨髓异常增生综合征 转化中的原始细胞增多的难治性贫血 (MDS RAEB T)后转为M2 型 1例 ,急性粒单细胞白血病伴嗜酸细胞增多 (M4EO) 1例 ,急性单核白血病 (M5) 1例和嗜酸性粒细胞白血病 1例。可评定疗效的 2 0例中 ,18例达到完全缓解(CR) ,CR率达 90 %。 8例同期收治的ANLL无融合基因和基因异常的病例 ,CR率达 87 5 %。结论　AML1/ETO融合基因阳性及阴性的两组病例 ,在各主要临床指标方面差异没有显著性。采用RT PCR检测白血病患儿AML1/ETO融合基因是一种快速、简便、灵敏的辅助诊断方法 。Objective It was revealed that t(8;21)(q22;q22) was one of the most common chromosomal aberrations in acute non-lymphoid leukemia. The translocation was found to be involved in the AML1 gene on the chromosome 21 and the ETO gene on the chromosome 8, and resulted in the formation of AML1/ETO fusion gene on the derivative chromosome 8. The fusion gene was a transcription factor and played a direct role in the leukemogenesis. The translocation was mainly observed in M 2, accidentally in M 4 and M 1 and rarely in MDS. Here we studied the main clinical data in children with acute non-lymphoid leukemia (ANLL) carrying the AML1/ETO fusion gene. In addition, we discussed the significance of the detection of AML1/ETO fusion gene in the diagnosis and prognosis of children with ANLL.Methods The authors investigated 29 patients in our hospital from December 2000 to March 2002. The patients were divided into two groups. Group A included 21 patients, 14 males and 7 females. They were 3.6 to 14 years old and the median was 9. Group B included 8 patients, 6 males and 2 females. They were 0.8 to 14 years old and the median was 6. Diagnosis was made according to FAB and MIC criteria and the expression of AML1/ETO fusion gene was detected with nested RT-PCR. The patients were treated according to DA, DAE or BFM regimen, respectively. The main clinical indexes including age, Hb, white blood count, platelet, blasts in PBC and BM, and time of arrival at complete remission (CR), were compared statistically between the two groups with t test of independent samples. Results All the 21 patients in group A were found carrying AML1/ETO, and 17 patients (81%) were classified as M 2, the other 4 cases were of M 2 developed from MDS-RAEB-T, M 4Eo, M 5 and eosinophil leukemia, respectively. Eighteen out of 20 patients whose effects could be assessed reached CR, and the CR ratio was 90%. Two patients in group B were of AML-M 1, 3 M 2, 1 M 3, 1 M 4, and 1 M 5, respectively. None of them was found carrying AML1/ETO. Seven cases r

关 键 词：急性髓细胞性白血病 基因融合 基因表达 儿童 RT-PCR 预后 染色体畸变 

分 类 号：R733.71[医药卫生—肿瘤]