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[Detection of Bcr/Abl gene rearrangement in chronic myelogenous leukemia patients by dual-color dual-fusion fluorescence in situ hybridization].

Bin Guo, Zhu Hl, Li Sx, Lu Xc, Fan H, Zhao Dd, Han Xp, Wan-Ming DA

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Abstract

This study was aimed to explore the value of dual-color dual-fusion fluorescence in situ hybridization (DC-DF-FISH) for the detection of bcr/abl fusion gene in chronic myeloid leukemia (CML). The karyotypes of chromosomes and bcr/abl fusion gene in 41 cases of CML including 18 cases of de-novo CML, 18 treated CML cases and 5 cases of CML received PBSCT were detected by conventional R-banding technique, DC-DF-FISH and RT-PCR. The results indicated that the Ph chromosome was found in 17 out of 18 cases of de novo CML by R-banding technique, with positive rate of 94.4%; DC-DF-FISH detection showed same result (94.4%). The R-banding technique was adopted to detect 18 treated patients and showed that 14 cases had metaphase for analysis, the Ph chromosome existed in 11 out of 14 cases with positive rate of 78.6% (11/14), however, DC-DF-FISH detection also showed positive rate of 94.4% (17/18) for these treated patients. The Ph chromosome in 5 cases after PBSCT did not found by R-banding technique, meanwhile FISH detection indicated that 1 case had bcr/abl gene, RT-PCR assay confirmed the result of FISH detection. It is concluded that the DC-DF-FISH technique is an accurate and reliable method for detecting bcr/abl gene which can be used in diagnosis of CML, evaluation of therapeutic efficacy and detection of minimal residual disease.

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What this paper is about

This study was aimed to explore the value of dual-color dual-fusion fluorescence in situ hybridization (DC-DF-FISH) for the detection of bcr/abl fusion gene in chronic myeloid leukemia (CML). The karyotypes of chromosomes and bcr/abl fusion gene in 41 cases of CML including 18 cases of de-novo CML, 18 treated CML cases and 5 cases of CML received PBSCT were detected by conventional R-banding technique, DC-DF-FISH and RT-PCR. The results indicated that the Ph chromosome was found in 17 out of 18 cases of de novo CML by R-banding technique, with positive rate of 94.4%; DC-DF-FISH detection showed same result (94.4%). The R-banding technique was adopted to detect 18 treated patients and showed that 14 cases had metaphase for analysis, the Ph chromosome existed in 11 out of 14 cases with positive rate of 78.6% (11/14), however, DC-DF-FISH detection also showed positive rate of 94.4% (17/18) for these treated patients. The Ph chromosome in 5 cases after PBSCT did not found by R-banding technique, meanwhile FISH detection indicated that 1 case had bcr/abl gene, RT-PCR assay confirmed the result of FISH detection. It is concluded that the DC-DF-FISH technique is an accurate and reliable method for detecting bcr/abl gene which can be used in diagnosis of CML, evaluation of therapeutic efficacy and detection of minimal residual disease.

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Available abstract

This study was aimed to explore the value of dual-color dual-fusion fluorescence in situ hybridization (DC-DF-FISH) for the detection of bcr/abl fusion gene in chronic myeloid leukemia (CML). The karyotypes of chromosomes and bcr/abl fusion gene in 41 cases of CML including 18 cases of de-novo CML, 18 treated CML cases and 5 cases of CML received PBSCT were detected by conventional R-banding technique, DC-DF-FISH and RT-PCR. The results indicated that the Ph chromosome was found in 17 out of 18 cases of de novo CML by R-banding technique, with positive rate of 94.4%; DC-DF-FISH detection showed same result (94.4%). The R-banding technique was adopted to detect 18 treated patients and showed that 14 cases had metaphase for analysis, the Ph chromosome existed in 11 out of 14 cases with positive rate of 78.6% (11/14), however, DC-DF-FISH detection also showed positive rate of 94.4% (17/18) for these treated patients. The Ph chromosome in 5 cases after PBSCT did not found by R-banding technique, meanwhile FISH detection indicated that 1 case had bcr/abl gene, RT-PCR assay confirmed the result of FISH detection. It is concluded that the DC-DF-FISH technique is an accurate and reliable method for detecting bcr/abl gene which can be used in diagnosis of CML, evaluation of therapeutic efficacy and detection of minimal residual disease.

Key concepts: Fluorescence in situ hybridization, ABL, Fusion gene, Myeloid leukemia, breakpoint cluster region, Karyotype, Minimal residual disease, Molecular biology

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[Detection of Bcr/Abl gene rearrangement in chronic myelogenous leukemia patients by dual-color dual-fusion fluorescence in situ hybridization]. — Research Paper | ScholarLens