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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 to investigate the role of fluorescence in situ hybridization (FISH) in the clinical diagnosis of childhood acute myeloid leukemia (AML). A retrospective analysis was performed on clinical laboratory data of 179 children with AML treated in our hospital from April 2005 to April 2010. FISH and karyotype analysis (CA), polymerase chain reaction (PCR) Means of fusion gene test results of the differences and complementarity. The results showed that the detection rate of FISH on cytogenetic abnormalities was high, 27 cases of AML-M3 probe detected PML / RARα fusion gene, 22 cases were positive; 24 cases of AML-M2b probe detected AML1 / ETO fusion gene , 24 cases were positive; 3 cases of AML-M4Eo probe CBFβ / MYH11 fusion gene detection, 3 cases were positive. Conclusion: The positive rate of fusion gene detected by FISH in children with AML is high, and it has good consistency with routine karyotype analysis and PCR. Combined with traditional cytogenetics and molecular biology techniques, FISH can make the detection of genetic abnormalities more accurate and has clinical value worthy of promotion in the diagnosis and classification of childhood AML.