罕见的ins(22；9)t(9；13)／Ph-慢性髓系白血病实验研究  

Laboratory Study on A Rare Case of Chronic Myeloid Leukemia with ins (22;9)t(9;13) and Ph-negative

作　　者：赖悦云[1] 冯麟[1] 王峥[1] 何琦[1] 党辉[1] 师岩[1] 吕珊[1] 秦亚溱[1] 黄晓军[1] 

机构地区：[1]北京大学人民医院,北京大学血液病研究所,北京100044

出　　处：《中国实验血液学杂志》2010年第2期355-358,共4页Journal of Experimental Hematology

摘　　要：本文报告1例罕见的具有ins(22;9)t(9;13)的Ph(-)慢性髓系白血病。骨髓细胞经24小时短期培养法制备染色体标本,采用G显带技术进行核型分析;用9号、22号全染色体涂染探针进行染色体涂染;用LSI bcr/abl双色双融合探针进行FISH分析;用实时荧光定量PCR法检测bcr/abl融合基因转录本及其拷贝数。结果表明,染色体核型为45,XX,der(9)t(9;13)(q34;q10),-13[20],abl基因插入到der(22)形成插入性的bcr/abl基因重排;实时荧光定量PCR检测到bcr/abl融合基因。结论:插入性的bcr/abl基因重排是t(9;22)的一种罕见的变异类型,可用分子学方法检测,但全染色体涂染及常规的染色体显带分析容易导致误诊。The study aimed to examine a rare case of Philadelphia （Ph） -negative chronic myeloid leukemia （CML） with t（9;13）. Chromosome samples were prepared after culture of bone marrow cells for 24 hours, the karyotypes were analyzed by G banding technique. Chromosome painting analysis was performed by using whole chromosome paints for chromosomes 9 and 22. Fluorescence in situ hybridization （ FISH ） was done with dual color dual fusion LSI bcr/abl probe. Bcr/abl transcripts were detected by real time fluorescence quantitative polymerase chain reaction （RQ-PCR）. As a result, G banding analysis showed a karyotype of 45 ,XX,der（9） t（9;13） （q34;q10） ,-13[20]. FISH assay using LSI bcr/abl DNA probe showed a red abl signal inserted into der （22） and a fusion signal of bcr/abl rearrangement was discovered. RQ-PCR detected high copies of bcr/abl transcripts. In conclusion, insertion of bcr/abl rearrangement was a rare variant t （9;22） and could be well detected by molecular techniques, however, regular cytogenetic banding technique and whole chromosome paintings may probably lead a misdiagnosis to such cases.

关 键 词：Ph(-)慢性髓系白血病 PH染色体 ins(22 9)t(9 13) 

分 类 号：R733.72[医药卫生—肿瘤]