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目的探讨2例急性髓系白血病(AML)伴 t(6;21;8)(p22;q22;q22)复杂易位患者的临床及实验室特点。方法骨髓细胞经短期24h 培养后按常规方法制备染色体标本,R 显带进行核型分析;双色双融合 AML1/ETO 探针进行丝裂间期及中期荧光原位杂交(FISH)检测 AML1/ETO 融合信号;逆转录-聚合酶链反应(RT-PCR)检测 AML1/ETO 融合基因转录本;综合分析临床特征。结果2例患者常规细胞遗传学分析显示均存在 t(6;21;8)(p22;q22;q22),间期和中期 FISH 证实了核型结果;RT-PCR 检测到 AML1/ETO 融合基因转录本;尽管2例患者均诊断为 AML-M_2,但二者的免疫表型和治疗反应不同。结论 t(6;21;8)(p22;q22;q22)是一种少见的 t(8;21)(q22;q22)的复杂变异易位,还需要更多的病例以明确其临床特征和预后价值。
Objective To investigate the clinical and laboratory features of 2 patients with acute myeloid leukemia (AML) complicated with t (6; 21; 8) (p22; q22; q22) complex translocation. METHODS: Bone marrow cells were cultured for 24 hours. The chromosomes were prepared by conventional methods. R banding was performed for karyotype analysis. AML1 / ETO fusion was detected by two-color double-fusion AML1 / ETO probe during interphase and metaphase fluorescence in situ hybridization The transcription of AML1 / ETO fusion gene was detected by reverse transcription-polymerase chain reaction (RT-PCR). The clinical features were analyzed comprehensively. Results The results of routine cytogenetic analysis showed that there was t (6; 21; 8) (p22; q22; q22) in both cases. The metaphase and interphase FISH confirmed karyotype results. The transcription of AML1 / ETO fusion gene was detected by RT- Although two patients were diagnosed as AML-M_2, the two had different immunophenotypes and response to treatment. Conclusions t (6; 21; 8) (p22; q22; q22) is an uncommon complex translocation of t (8; 21) (q22; q22) and needs more cases to clarify its clinical features and Prognostic value.