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  

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

作　　者：黄竞[1,2] 周长华[1] 阿依姆妮萨.阿卜杜热合曼 高腾腾[4] 海热萨.阿不力米提 刘志[1] 穆尼热.艾尼 徐丽[3] 艾克拜尔.阿布都热衣木 

机构地区：[1]广东省第二人民医院血液内科,广东广州510317 [2]喀什地区第一人民医院 [3]喀什地区第一人民医院血液内科,新疆喀什844000 [4]喀什地区第一人民医院病理科,新疆喀什844000

出　　处：《广东医学》2017年第5期692-695,共4页Guangdong Medical Journal

基　　金：广东省科技计划项目(编号:2015A020210068);广东省第二人民医院青年基金项目(编号:YQ2015-012,YQ2015-005)

摘　　要：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。Objective To explore the clinical application of multiprobe fluorescence in situ hybridization （FISH） combined with conventional cytogcnetic 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/MYHll 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 muhiprobe FISH panel, cytoge- netic aberrations were detected in 22 cases （22/30, 66. 7% ）, which have involved PML/RAR transfusion gene, AML1/ ETO transfusion gene, CBF/MYHll transfusion gene, MLL gene, trisomy 8, -7/Del（7q）, Del（5q）, P53 deletion. CCG was only identified in 9 cases with the corresponding cytogenetic abnormalities and 2 cases with other cytogenetic ab- normalities. 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 evi- dences for the diagnosis of Uyghur newly diagnosed aduh AML in Kashgar region.

关 键 词：多探针荧光原位杂交 G显带核型分析 细胞遗传学异常 急性髓系白血病 维吾尔族 

分 类 号：R714.55[医药卫生—妇产科学]