急性早幼粒细胞白血病PML/RARα融合基因检测的临床意义

Clinical significance of detecting PML/RARα fusion gene in acute promyelocytic leukemia

目的探讨荧光原位杂交技术(FISH)检测PML/RARα融合基因在急性早幼粒细胞白血病(APL)诊断中的应用价值。方法应用常规细胞遗传学分析28例APL患者的染色体核型,同时用FISH法检测PML/RARα融合基因。结果 28例初诊的APL患者254例常规核型分析检出t(15;17)(q22;q12);2例患者核型正常;另1例未检出t(15;17),核型分析结果为涉及15和17号染色体的复杂异常;FISH检测所有病例均存在PML/RARα融合基因。结论 FISH法行PML/RARα融合基因检测特异性和敏感性好,是诊断APL的可靠方法。

Objective To explore the application value of detecting PML/RARα fusion gene in the diagnosis of acute promyelocytic leukemia（APL） with fluorescence in situ hybridization（FISH）. Methods The chromosome karyotype of 28 cases of APL patients was analyzed with the conventional cytogenetic analysis method and the PML/RARα fusion gene was detected with FISH method. Results Among 28 first diagnosed APL patients,the t（15;17）（q22;q12） was detected in 24 25 patients with the conventional karyotype analysis;Two patients were detected to be normal karyotype;And the t（15;17） was not detected in one case. The karyotype analysis results showed the complex abnormalities involving in the chromosome 15 and 17;The PML/RARα fusion gene was detected to exist in all cases with FISH detection. Conclusion The PML/RARα fusion gene detection with FISH method is a reliable way for the diagnosis of APL with fine specificity and sensitivity.