应用FISH检测儿童ALL TEL-AML1与E2A/PBX1融合基因  

Identification of TEL-AML1 and E2A/PBX1 fusion gene in childhood acute lymphoblastic leukemia

作　　者：杨光[1] 

机构地区：[1]山西医科大学儿科系,太原030001

出　　处：《中国医疗前沿》2011年第2期70-71,96,共3页China Healthcare Innovation

摘　　要：目的探讨TEL-AML1与E2A/PBX1融合基因在儿童急性淋巴细胞白血病(ALL)的检测方法及其临床应用价值。方法在形态学、免疫分型、细胞遗传学基础上,应用荧光原位杂交技术(FISH)检测63例ALL患儿TEL-AML1和E2A/PBX1融合基因阳性率。结果 FISH技术可以显著提高TEL-AML1和E2A/PBX1融合基因的检出率,TEL-AML1融合基因在初发ALL儿童中的阳性率为25.4%(16/63),E2A/PBX1融合基因在初发ALL儿童中的阳性率4.8%(3/63)。结论 t(12;21)形成TEL-AML1融合基因和t(1;19)形成E2A/PBX1融合基因,是儿童ALL常见的染色体易位,常规染色体核型分析极难发现,需用FISH分子生物学检测方法加以证实。Objective To discuss the role of fluorescence in situ hybridization（FISH） in t（12;21） and t（1;19） detection in pediatric cases with acute lymphoblastic leukemia.Methods t（12;21）/TEL-AML1 fusion gene and t（1;19）/E2A/PBX1 was identified in bone marrow mononuclear cells from 63 newly diagnosed childhood ALL patients by FISH and conventional cytogenetic analysis（CCA）.Results 16 cases were found with a t（12;21） by FISH.3cases were found with a t（1;19） by FISH.The incidence of the t（12;21） was 25.4% and the t（1;19） was 4.8% in newly diagnosed pediatric ALLs.Conclusion t（12;21）/TEL-AML1 and t（1;19）/E2A/PBX1 fusion gene is common cytogenetic translocations in Chinese pediatric ALLs,but it always cannot be identified by routine CCA.Other molecular methods,e.g.FISH are powerful in detecting such a cryptic genetic translocation.

关 键 词：急性淋巴细胞白血病 TEL-AML1融合基因 E2A/PBX1融合基因 FISH 

分 类 号：R446.6[医药卫生—诊断学] R556[医药卫生—临床医学]