伴有t(11;20)(p15;q11)易位急性单核细胞白血病患者的细胞遗传学和分子遗传学研究

CYTOGENETIC AND MOLECULAR GENETIC STUDIES ON AN ACUTE MONOBLASTIC LEUKEMIA PATIENT WITH t(11;20)(p15;q11) TRANSLOCATION

目的 :报道 1例伴有t(11;2 0 ) (p15 ;q11)易位的急性单核细胞白血病 (AML -M 5 )病例及其染色体涂染、逆转录-聚合酶链反应 (RT -PCR)的研究结果。方法 :骨髓细胞经直接法或 2 4h培养法常规制备染色体标本 ,以R显带技术进行核型分析 ;以 11号和 2 0号整条染色体涂染探针进行染色体涂染 ;采用RT -PCR技术检测NUP98-TOP1融合基因的转录本。结果 :R显带和全染色体涂染的结果证实该患者染色体异常为t(11;2 0 ) (p15 ;q11) ;RT -PCR检测到NUP98-TOP1融合基因的转录本。结论 :染色体涂染和RT -PCT技术的应用有利于检出t(11;2 0 ) (p15 ;q11)。

Objective:To report a case of acute monoblastic leukemia patient (AML-M5) with rare t(11;20)(p15;q11).Methods:Chromosomes were prepared by using the direct method as well as 24h unstimulated cultures of fresh heparinized bone marrow at presentation.R-banding technique was used to analyze karyotypes.Chromosome painting analysis was performed with whole chromosome paints for chromosomes 11 and 20. NUP98-TOP1 transcript resulted from t(11;20) was assayed by reverse transcriptase polymerase chain reaction (RT-PCR).Results:RHG banding and chromosome painting analysis confirmed the existence of the translocation. RT-PCR revealed the NUP98-TOP1 fusion transcript.Conclusions:RT-PCR and chromosome painting analysis may be more reliable methods for the detection of this abnormality.