儿童急性淋巴细胞白血病TEL-AML1融合基因检测  

Identification of TEL-AML1 fusion gene in childhood acute lymphoblastic leukemia

作　　者：王恺[1] 周永安[2] 苏丽萍[3] 武坚锐[2] 解菊芬[1] 赵瑾[1] 马莉[1] 

机构地区：[1]山西医科大学第二医院血液科,太原030001 [2]山西省儿童医院产前诊断中心 [3]山西省肿瘤医院血液科

出　　处：《白血病．淋巴瘤》2009年第11期675-678,共4页Journal of Leukemia & Lymphoma

摘　　要：目的 检测儿童急性淋巴细胞白血病（ALL）中TEL-AML1融合基因的阳性率，探讨TEL-AML1融合基因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，采用巢式反转录-聚合酶链反应（RT-PCR）和荧光原位杂交技术（FISH）检测31例ALL患儿骨髓单核细胞中TEL-AML1融合基因。结果 巢式RT-PCR技术和FISH技术均可以显著提高TEL-AML1融合基因的检出率，应用上述两种方法，31例患儿中检测出7例TEL-AML1阳性，占儿童初发ALL的22.6 %（7／31），在B系ALL中的阳性率为25.9 %（7／27）。结论 t（12;21）形成TEL-AML1融合基因是儿童ALL最常见的染色体易位，常规染色体核型分析极难发现，需用巢式RT-PCR或FISH等分子检测方法加以证实。Objective To detect expression of TEL-AML1 fusion genes in pediatric cases with acute lymphoblastic leukemia（ALL） and discuss the role of reverse transcriptase polymerase chain reaction（RT-PCR） and fluorescence in situ hybridization（FISH） in detection of t（12 ;21） and the clinical significance. Methods TEL-AML1 fusion gene was identified in bone marrow mononuclear cells from 31 newly diagnosed childhood ALL patients by NRT-PCR, FISH and conventional cytogenetic analysis （CCA）. Results TEL-AML1 fusion gene was found in 7 out of 31 cases, accounting for 22.6 % in pediatric ALL, and 7 out of 31 cases accounting for 25.9 % in B-ALL. Seven cases were found with t（12;21） by FISH and NRT-PCR. The incidence of the t（12;21） was 22.6 % in newly diagnosed pediatric ALLs. Conclusion It is concluded that TEL-AML1 rearrangement is a frequent molecular abnormality in childhood ALL. t（12;21） is the most common cytogenetic translocations in Chinese pediatric ALLs, but it is always difficult to identify by routine CCA. Other molecular methods, e.g. NRT-PCR and FISH are powerful in detecting such a critical genetic translocation.

关 键 词：白血病 淋巴细胞 急性 TEL—AML1融合基因 聚合酶链反应 原位杂交 荧光 

分 类 号：R733.7[医药卫生—肿瘤]