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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 investigate the detection of TEL-AML1 and E2A / PBX1 fusion gene in childhood acute lymphoblastic leukemia (ALL) and its clinical value. Methods The positive rates of TEL-AML1 and E2A / PBX1 fusion gene in 63 children with ALL were detected by fluorescence in situ hybridization (FISH) based on morphology, immunophenotyping and cytogenetics. Results FISH could significantly improve the detection rate of TEL-AML1 and E2A / PBX1 fusion gene. The positive rate of TEL-AML1 fusion gene was 25.4% (16/63) in ALL children. The E2A / PBX1 fusion gene in early stage The positive rate of ALL children was 4.8% (3/63). Conclusion The TEL-AML1 fusion gene and t (1; 19) form E2A / PBX1 fusion gene at t (12; 21) is a common chromosomal translocation in children with ALL. Conventional chromosome karyotype analysis is extremely difficult to find. FISH molecular biology School test methods to be confirmed.