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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 molecular biological features of a patient with translocated (t7; 21) (p21; q22) translocations of acute myeloid leukemia (AML) associated with a new (t8; 21) translocation. Methods: The bone marrow cells of AML patients were cultured by short-term culture, then the chromosomes were prepared by conventional methods. R banding was performed for karyotype analysis. Fluorescence in situ hybridization was performed by AML1 / ETO double-color double-fusion probe. AML1 / Transcript copy number of ETO fusion gene. Results: The patient’s conventional cytogenetic analysis showed (t7; 21) (p21; q22) translocations. Eighty-six percent of myeloid cells were positive for the AML1 / ETO fusion gene and 51440 copies / 10000 copies of the Abl gene of the reference gene. Conclusions: (t7; 21) (p21; q22) is a novel (t8; 21) (q22; q22) variant translocation similar to other types of (t8; 21) variant translocations, suggesting a good prognosis.