1例伴有t(9;22)和ins(3;8)的慢性粒细胞白血病的临床和实验研究  

CLINICAL AND EXPERIMENTAL STUDIES ON A CASE OF CHRONIC MYELOID LEUKEMIA WITH T(9;22) AND INS(3;8)

作　　者：戴海萍[1] 薛永权[1] 潘金兰[1] 吴亚芳[1] 张俊[1] 

机构地区：[1]苏州大学附属第一医院江苏省血液研究所白血病研究室,江苏苏州215006

出　　处：《实用临床医药杂志》2006年第5期13-15,共3页Journal of Clinical Medicine in Practice

摘　　要：目的报道1例伴有ins(3;8)的慢性粒细胞白血病(CML)病例及其3号、8号全染色体涂染、双色间期荧光原位杂交(FISH)、实时荧光定量PCR研究结果。方法骨髓细胞经直接法或24 h短期培养法制备染色体标本,R显带技术进行核型分析;3号、8号全染色体涂染探针进行染色体涂染;bcr/abl双色双融合探针进行FISH分析;实时荧光定量PCR检测bcr/abl融合基因转录本及其拷贝数。结果骨髓细胞R显带核型分析提示,除t(9;22)外,所有细胞伴ins(3;8);全染色体涂染证实3号染色体上插入一段8号来源的染色体片段;双色FISH检测到bcr/abl基因重排;实时荧光定量PCR检测到bcr/abl融合基因(b3a2)转录本。结论ins(3;8)是CML患者罕见的附加染色体异常;全染色体涂染是明确染色体插入易位的可靠手段。Objective To report a rare case of chronic myeloid leukemia（CML） with t（9; 22） and ins（3 ;8）, and the results of cytogenetic, molecular genetic and molecular biology studies, Methods Chromosomes were prepared after 24-hour culture of bone marrow cells, and R-banding technique was used to analyze karotypes. Chromosome painting analysis was performed by using whole chromosome paints for chromosomes 3 and 8. Fluorescence in situ hybridization （FISH） was done with dual-color, dual-fusion bcr/abl probe. Bcr/abl transcripts were detected by real-time fluorescence quantitative polyrnerase-chain-reaction（RQ-PCR）. Results Karotyping analysis showed that besides t （9 ; 22）, all cells revealed ins （ 3 ; 8）. Chromosome painting analysis confirmed the karotypic abnormality. FISH detected bcr/abl rearrangement; high copies of bcr/abl transcripts were detected by RQ-PCR. Conclusion Ins（3;8） is a rare additional anomaly in Ph positive CIVIL patients and whole chromosome painting is a reliable method for characterization of insertions.

关 键 词：荧光原位杂交 全染色体涂染 实时荧光定量PCR 插入易位 慢性粒细胞白血病 

分 类 号：R733.7[医药卫生—肿瘤]