双色双融合荧光原位杂交方法检测bcr／ab1融合基因

本研究总结分析1295份双色双融合荧光原位杂交方法（DC—DF—FISH）检测的bcr／abl融合基因结果并与常规细胞遗传学结果对比，进一步证实双色双融合荧光原位杂交方法检测bcr／abl融合基因的敏感性及临床应用价值。应用bcr／abl双色双融合DNA探针对骨髓间期细胞行荧光原位杂交，回顾分析FISH和核型检测结果。结果表明：在所检测的539例患者的1295份骨髓标本中FISH阳性结果456份，涉及患者310例，核型正常的18例。核型分析失败的5例。310例FISH阳性病例中典型的DC—DF—FISH信号（2Y1G1R）234例，占75．5％（234／310）。非典型信号患者76例，其中变异信号66例，占FISH阳性病例的21．3％（66／310）。典型变异信号（1Y2G2R）16例，abl／和／或bcr缺失50例。213例多次DC—DF—FISH结果中，治疗后总转阴率为60％（128／213），治疗过程中阴性阳性多次反复的达12例。结论：双色双融合FISH技术可以检测隐匿核型、变异核型、基因序列缺失、微小残留病（MRD），是一个敏感、精确的白血病的诊断和治疗监测工具，有必要同细胞遗传学检查一样作为常规项目，尤其对于治疗后的病例，它在监测微小残留病及监测复发方面更优于常规细胞遗传学。

Detection of bcr/abi Fusion Gene by Dual Color-Dual Fusion Fluorescence In Situ Hybridization

This study was aimed to investigate the sensitivity and clinical application of interphase-dual-color and dual-fusion fluorescence in situ hybridization （DC-DF-FISH）. The bcr/abl fusion gene was detected by FISH with dualcolor and dual-fusion bcr/abl DNA probe in interphase cells of bone marrow from 1295 specimens. Retrospective analysis for the cases was performed by the means of conventional cytogenetic analysis （CCA） and FISH. The results indicated that in 1295 specimens from 539 patients, 456 specimens were positive involved in 310 patients, the karyotypes of 18 patients were normal, 5 patients failed to karyotyping analysis. About 75. 5% （234/310） of positive patients displayed the typical DC-DF-FISH signal pattern, 76 patients showed atypical DC-DF-FISH signal patterns, 66 cases out of which showed variant signal, 16 patients displayed typical variant signals （1Y2G2R）, 50 patients displayed deletion ABL and/or BCR signal. In 213 patients, the negative rate was 60% （128/213） after the treatment, 12 patients were sometimes negative and sometimes positive during the process of the treatment. It is concluded that DC-DF-FISH can be used to detect karyotypes with masked or variant Ph, gene deletion and minor residual disease （MRD） in process of treatment. The dual-color FISH technique is a much more sensitive and accurate tool for monitoring MRD and monitoring relapse, which is a necessary supplement to CCA.