摘要
目的探讨双色荧光原位杂交(FISH)技术在t(8;21)白血病诊断和治疗监测中的应用。方法将2001年以来应用双色双融合AML1/ETO基因探针进行FISH检测的70例白血病患者, 分为未治疗组和治疗组,回顾性分析核型、FISH及部分RT-PCR结果,对核型结果有疑问的患者再应用显带后连续进行中期FISH方法予以确定。结果未治疗组共42例,经FISH补充检测确诊30例为 t(8;21)患者,其中2例患者核型分析未检出t(8;21)和1例RT-PCR结果阴性患者FISH检测结果均为阳性;6例复杂易位患者通过显带后连续中期FISH检测不仅确定AML1/ETO融合基因的存在,同时精确定位。治疗组共28例,为已确诊的t(8;21)白血病患者。3例患者核型分析结果正常或非t(8; 21),FISH检测结果阳性。2例通过FISH监测到复发。结论双色FISH技术是一种敏感、精确的 t(8;21)白血病的诊断和治疗监测工具,可精确定位复杂核型,因而是常规细胞遗传学检测的必要补充。
Objective To investigate the utilities of dual-color fluorescence in situ hybridization （FISH） in diagnosis and monitor of treatment in acute myeloid leukemia （AML） with t（8 ;21 ）. Methods Seventy patients having FISH results were divided into two groups： untreated and treated group. Comparative analysis was performed between the results of conventional cytogenetic analysis （CCA） and FISH analysis, and in some of them, between FISH and reverse transcriptase polymerase chain reaction （RT-PCR） results. A successive FISH following R-banding was carried out in those with cytogenetic undetermined cases. Results In untreated group, 30/42 cases of t（8 ;21 ） AML were positive for AML1/ETO in FISH assay. Three cases were positive for AML/ETO by FISH although two of them lacked t（ 8 ;21 ） by CCA and one negative for AML1/ETO by RT-PCR. Six cases with complex karyotype abnormalities were confirmed to be AML1/ETO positive by the successive R-banding and FISH assay, and the involved genes were clearly visualized in FISH image. In the treated group, there were 28 cases of t（8 ;21 ） AML diagnosed. Three cases without t（ 8 ;21 ） by CCA were positive by FISH. Two patients were detected relapse earlier by FISH. Conclusion The dualcolor FISH technique is a much more sensitive and accurate approach to the diagnosis of t（8 ;21 ） AML and minimal residual disease （MRD） monitoring. It can also provide precise mapping of fusion signals in complex karyotype.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
2006年第1期32-35,共4页
Chinese Journal of Hematology
关键词
核型分析
原位杂交
荧光
逆转录聚合酶链反应
白血病
Karyotyping
In situ hybridization, fluorescence
Reverse transcription polymerase chain reaction
Leukemia
