双色双融合荧光原位杂交检测成人急性白血病PML/RARα、MLL、AML1/ETO基因重排

目的探讨双色双融合荧光原位杂交技术（DC-DF-FISH）在成人急性白血病（Acute Leukemia,AL）中的应用价值。方法应用DC-DF-FISH检测我院26例AL患者相应的AML1/ETO、MLL、PML/RARa融合基因,并与常规R-显带技术进行比较。结果 26例AL患者中,R-显带发现4例存在标记染色体,检出率15.4%（4/26）,17例为正常核型和其他异常核型,未检出包含11q23染色体异常,DC-DF-FISH检测发现8例特异目的基因为阳性,包括R-显带检测出的4例,检出阳性率30.8%（8/26）。结论双色双融合荧光原位杂交技术是检测成人急性白血病PML/RARα、MLL、AML1/ETO基因重排的可靠方法,适用于AL的诊断、疗效判定及微小残留病灶的检测。

Detection of PML/RARa, MLL, AML1/ETO gene rearrangement by dual color-dual fusion fluorescence in situ hybridization in adult acute leukemia patients

Objective To study the application of dual color-dual fusion fluorescence in situ hybridization（DC-DF-FISH） in detection of gene rearrangement in adult acute leukemia（AL） patients.Methods AML1/ETO,MLL,PML/RARa,BCR/ABL gene rearrangement was detected by DC-DF-FISH in 26 adult AL patients and compared with that detected by routine R-band.Results Four marker chromosomes were detected in 26 adult AL patients with a positive rate of 15.4%.No abnormal chromosome containing 11q23 was found in 17 patients with normal or abnormal karyotypes.Positive specific marker genes were detected in 8 patients by DC-DF-FISH and R-band respectively,with a positive rate of 30.8%.Conclusion DC-DF-FISH can reliably detect the PML/RARa,MLL,and AML1/ETO gene rearrangement,and can thus be used in diagnosis of AL,in judgment of therapeutic effect,and in detection of small residual foci.