间期荧光原位杂交在儿童急性淋巴细胞白血病t(12;21)检测中的应用

Identification of t(12;21) in Chinese Pediatric Cases with Acute Lymphoblastic Leukemia by Interphase Fluorescence in Situ Hybridization

目的 探讨双色间期荧光原位杂交(I -FISH)技术在儿童急性淋巴细胞白血病t(12 ;2 1)检测中的应用价值。方法 联合双色I -FISH和常规染色体核型分析技术(CCA)对5 1例儿童初治ALL的骨髓或外周血有核细胞进行t(12 ;2 1) /TEL- AML1融合基因检测。结果 11例患儿经I -FISH检测发现t(12 ;2 1) ,占总病例2 1 .6 % ;仅1例CCA检测发现有可疑的t(12 ;2 1)。结论 t(12 ;2 1)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FISH等分子检测方法加以证实。

Objective To discuss the role of interphase flu orescence in situ hybridization(I-FISH) in t(12;21) detection in Chinese pediat ric cases with acute lymphoblastic leukemia.Methods t(12; 21)/TEL-AML1 fusion gene was identified in bone marrow or peripheral blood mono nuclear cells from 51 newly diagnosed childhood ALL patients by dual color I-F ISH and conventional cytogenetic analysis(CCA).Results 11 cases were found with a t(12;21) by FISH.The incidence of the t(12;21) was 21. 6% in newly diagnosed pediatric ALLs.Only one case had a dubious t(12;21) when d etecting by CCA.Conclusion t(12;21) is the most common cy togenetic translocations in Chinese pediatric ALLs,but it always cannot be ident ified by routine CCA.Other molecular methods,e.g.FISH are powerful in detecting such a cryptic genetic translocation.