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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TEL/AML1和BCR/ABL融合基因检测中的应用价值。方法:联合双色间期荧光原位杂交(I-FISH)技术和常规染色体核型分析技术(CCA)对35例儿童初治ALL和4例儿童复发ALL的骨髓有核细胞进行t(12;21)TEL/AML1和t(9;22)BCR/ABL融合基因进行检测。结果:12例患儿经FISH检测发现TEL/AML1融合基因,占总病例的30.8%;而CCA检测均未发现有可疑t(12;21)。4例患儿经FISH检测发现BCR/ABL融合基因,占总病例的10.3%;而CCA检测发现1例可疑t(9;22),占总病例的2.5%。TEL/AML1在儿童ALL中阳性率较BCR/ABL高,该融合基因阳性的患儿病情较轻。结论:FISH技术较常规染色体核型分析技术特异性强、敏感度高,可以有效检测出TEL/AML1和BCR/ABL融合基因,从而为儿童ALL的诊断和个体化治疗方案提供重要的依据。
Objective: To investigate the value of dual-color fluorescence in situ hybridization (I-FISH) in the detection of TEL / AML1 and BCR / ABL fusion gene in children with acute lymphoblastic leukemia. Methods: The bone marrow nucleated cells of 35 children with ALL and 4 children with recurrent ALL were enrolled in this study. T (12; 21) cells were obtained by dual-color fluorescence in situ hybridization (I-FISH) and conventional chromosomal karyotyping (CCA) ) TEL / AML1 and t (9; 22) BCR / ABL fusion genes. Results: The TEL / AML1 fusion gene was detected in 12 children by FISH, accounting for 30.8% of the total cases. No suspicious t (12; 21) was detected in CCA. Four cases of children with BCR / ABL fusion gene detected by FISH, accounting for 10.3% of the total cases; and CCA test found 1 suspicious t (9; 22), accounting for 2.5% of the total cases. The positive rate of TEL / AML1 in children with ALL was higher than that with BCR / ABL, and the children with positive fusion gene had mild disease. Conclusion: The FISH technique is more specific and sensitive than the conventional karyotype analysis, which can effectively detect the TEL / AML1 and BCR / ABL fusion genes and provide an important basis for the diagnosis and individualized treatment of ALL.