【摘要】 目的探讨伴有i(17q-)的急性早幼粒细胞白血病(APL)的临床和实验室特征。方法骨髓细胞经24h培养后按常规方法制备染色体,用R显带技术进行核型分析,并用PML/RARα和HER-2探针进行荧光原位杂交(FISH)检测。用反转录-聚合酶链反应(RT-PCR)检测PML/RARα融合基因。结果2例的临床和血液学改变符合AML-M3诊断。染色体核型分析揭示2例患者染色体均存在t(15;17)易位及i(17q-),并通过FISH检测加以证实。2例RT-PCR均检测到了PML/RARα融合基因。结论i(17q-)是APL中一种少见的染色体附加异常,其预后意义有待进一步讨论。更多还原

【Abstract】 Objective To explore the clinical and laboratory characteristics of two acute promyelocytic leukemia(APL)patients with isochromosome 17q-anomaly. Methods Bone marrow cell chromosome preparations were made with short-term culture. Karyotype analysis was performed by R-banding technique and dual-color fluorescence in situ hybridization(FISH) by using PML/RARα and HER-2 probes. Using the reverse transcriptase polymerase chain reaction(RT-PCR) detect PML/RARα fusion. Results The clinical and hematological findings were comparable with diagnosis of APL. Karyotype analysis showed that both patients had t(15;17) and isochromosome 17q- anomaly, and that proved by FISH. Furthermore, PML/RARα fusion were detected by RT-PCR in both patients. Conclusion i(17q-) is a rare additional karyotype abnormality in APL, the prognostic implication needs further research.更多还原