荧光原位杂交技术在儿童急性髓系白血病诊断中的作用  

Diagnostic Value of Fluorescence in situ Hybridization for Children with Acute Myeloid Leukemia

作　　者：王雅琴 周剑峰 阮敏 衣晓丽 安文彬 杨文钰 郭晔 张丽 刘天峰 竺晓凡 

机构地区：[1]中国医学科学院血液学研究所血液病医院儿科,天津300020

出　　处：《中国实验血液学杂志》2012年第5期1099-1102,共4页Journal of Experimental Hematology

摘　　要：本研究探讨荧光原位杂交技术(FISH)在儿童急性髓系白血病(AML)临床诊断中的作用。对2005年4月至2010年4月于我院就诊的179例儿童AML的临床实验室检查资料进行回顾性分析,分析FISH法与染色体核型分析(CA)、聚合酶链反应(PCR)检测手段对融合基因检测结果的差异性和互补性。结果表明:FISH对细胞遗传学异常的检出率较高,27例AML-M3应用探针检测PML/RARα融合基因,22例为阳性;24例AML-M2b应用探针检测AML1/ETO融合基因,24例均为阳性;3例AML-M4Eo应用探针检测CBFβ/MYH11融合基因,3例均阳性。结论:FISH法检测儿童AML中融合基因阳性率较高,并且与常规染色体核型分析和PCR检测具有较好的一致性。FISH与传统的细胞遗传学和分子生物学技术相结合,能够使遗传学异常的检测更准确,在儿童AML的诊断和分型中具有值得推广的临床价值。This study was purposed to investigate the diagnostic value of fluorescence in situ hybridization（FISH） technique for the childhood acute myeloid leukemia（AML）.The medical data of 179 children with AML（aged≤16 years） were retrospectively studied,who were initially diagnosed in our hospital from April 2005 to April 2010.Through the analysis of the results of FISH,chromosome banding analysis and polymerase chain reaction,the difference and complementarity between FISH and other 2 methods for detecting the fusion genes were explored.The results indicated that the detection rate of genetic abnormality with FISH was higher.The PML/RARα probe was used in 27 AML-M3 patients,22 out of whom were evaluated as PML/RARα positive.The AML1/ETO probe was used in 24 AML-M2b patients and all of them were evaluated as AML1/ETO positive.The CBFβ/MYH11 probe was used in 4 AML-M4Eo patients and all of them were evaluated as CBFβ/MYH11 positive.It is concluded that FISH is a sensitive method for detecting fusion genes and the results of FISH have a good correlation with the chromosome banding analysis and polymerase chain reaction.The combination of FISH with other 2 methods improves the detection rate of genetic abnormality,which is useful for the diagnosis and typing of childhood AML.

关 键 词：急性髓系白血病 荧光原位杂交技术 白血病诊断 

分 类 号：R733.71[医药卫生—肿瘤]