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急性髓系白血病伴新的t(8;21)变异易位--t(7;21)(p21;q22)易位

Acute myeloid leukemia carrying t(7;21)(p21;q22)——a new variant form of t(8;21) (p21;q22)
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摘要 目的:探讨1例急性髓系白血病(acute myeloid leukemia,AML)伴新的(t8;21)变异易位即(t7;21)(p21;q22)易位患者的临床与分子生物学特点。方法:将AML患者的骨髓细胞经短期培养后按常规方法制备染色体,R显带进行核型分析;利用AML1/ETO双色双融合探针进行荧光原位杂交检测;实时荧光定量PCR法检测AML1/ETO融合基因的转录本拷贝数。结果:患者的常规细胞遗传学分析结果显示为(t7;21)(p21;q22)易位。86%的骨髓细胞为AML1/ETO融合基因阳性,融合基因转录本为51440个拷贝/10000个内参Abl基因拷贝。结论:(t7;21)(p21;q22)是一种新的(t8;21)(q22;q22)变异易位,与其他类型的(t8;21)变异易位相似,预示有良好预后。 Objective: To investigate the clinical and laboratory characteristics of one patient with AML (acute myeloid leukemia) carrying t(7;21)(p21;q22)——a new variant form of t(8;21) (p21;q22). Methods: Cytogenetic examination was performed after culture of cells from bone marrow for 24 h. R-banding technique was used for karyotype analysis. AML1/ETO fusion gene was detected by dual-color fluorescence in situ hybridization (FISH) using AML1/ETO dual-color probes. Quantitative analysis of AML1/ETO chimeric transcripts was performed by using a real-time fluorescence-based quantitative PCR. Results: Chromosome analysis revealed a karyotype of 46, XX, t(7;21)(p21;q22), and AML1/ETO fusion gene was found in 86% of the bone marrow cells. The AML1/ETO fusion transcript copy number was 51 440/10 000 Abl copies. Conclusion: The AML patient carrying t(7;21)(p21;q22) which is a new variant form of t(8;21)(q22;q22) may have a better prognosis.
出处 《肿瘤》 CAS CSCD 北大核心 2012年第10期833-836,共4页 Tumor
关键词 白血病 髓样 急性 易位 遗传 癌基因融合 基因 AML1/ETO Leukemia, myeloid, acute; Translocation, genetic; Oncogene fusion; Gene, AML1/ETO
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