多探针荧光原位杂交技术联合G显带核型分析诊断维吾尔族成人急性髓系白血病的效果

目的 探讨多探针荧光原位杂交(FISH)技术联合G显带核型分析(CCG)在喀什地区维吾尔族成人急性髓系白血病(AML)诊断中的应用价值.方法 采用AML多探针FISH系统包括PML/RARα、AML1/ETO、CBFβ/MYH11融合基因,MLL基因重排,Del (20q),-7/Del (7q),Del(5q)及P53基因8种探针]对30例该地区新诊断维吾尔族成人AML进行检测,同期进行常规CCG.结果 30例AML中有20例多探针FISH检测出细胞遗传学异常,异常检出率为66.7％.而CCG的异常检出率为36.7％,相对应的遗传学异常仅检出9例,另检出2例多探针FISH不能检出的异常.多探针FISH异常检出率明显高于CCG(P ＜0.05),且两者结合可将检出率提高至73.3％.结论 多探针FISH对于细胞遗传学异常的检出率较CCG高,两者联合检测可以提高AML遗传学异常的检出率,为该地区维吾尔族成人AML的精准诊断提供更多客观可靠的依据.

Diagnostic utility of Multiprobe Fluorescence in situ Hybridization combined with G-banding chromosome analysis in Uyghur Adult Patients with newly diagnosed Acute Myeloid Leukemia in Kashgar region

Objective To explore the clinical application of multiprobe fluorescence in situ hybridization (FISH) combined with conventional cytogenetic G-banding(CCG) analysis in the diagnosis of acute myeloid leukemia (AML) in Uyghur adult patients in Kashgar region.Methods The multiprobe AML panel comprising 8 different FISH probes for PML/RAR transfusion gene,AML1/ETO transfusion gene,CBF/MYH11 transfusion gene,MLL gene,Del(20q),-7/ Del(7q),Del(5q),and P53 deletion was performed in 30 Uyghur adult patients newly diagnosed with AML in Kashgar region.The multiprobe FISH results were compared with those of CCG.Results With the multiprobe FISH panel,cytogcnetic aberrations were detected in 22 cases (22/30,66.7％),which have involved PML/RAR transfusion gene,AML1/ETO transfusion gene,CBF/MYH11 transfusion gene,MLL gene,trisomy 8,-7/Del (7q),Del (5q),P53 deletion.CCG was only idcntificd in 9 cases with the corresponding cytogenetic abnormalities and 2 cases with other cytogenetic abnormalities.The positive rate of multiprobe FISH was significantly higher than the CCG (P ＜ 0.05),and the detection rate by the combination of FISH and CCG increased to 73.3％.Conclusion Comparing with CCG,multiprobe FISH panel is more accurate,effective and rapid in the diagnosis of AML with cytogenetic aberrations.Multiprobe FISH combined with CCG can improve the detection rate of cytogenetic aberrations in AML and can provide more objective and reliable evidences for the diagnosis of Uyghur newly diagnosed adult AML in Kashgar region.