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目的探讨双色双融合荧光原位杂交探针(dual-color-dual-fusionfluorescenceinsituhybridization,DC-DF-FISH)在成人急性淋巴细胞白血病BCR-ABL基因重组中的应用价值。方法选择本院诊断的26例急性淋巴细胞白血病,采用流式细胞技术检测免疫表型、并应用常规R显带技术、双色双融合间期荧光原位杂交技术、逆转录-聚合酶链反应(RT-PCR)检测患者的染色体核型及BCR-ABL融合基因,并对其结果进行比较。结果26例患者中,所有检出Ph染色体及BCR-ABL基因的病例均为B细胞或T/B双表型淋巴细胞白血病,其中常规显带技术检测出Ph染色体为3例(阳性率为11·5%),经DC-DF-FISH及RT-PCR(reversetranscriptasepolymerasechainreaction)检测此3例BCR-ABL基因阳性,证实此3例患者为Ph阳性的急性淋巴细胞白血病(Ph+ALL),而对常规显带未检出Ph染色体的23例患者,DC-DF-FISH及RT-PCR检测出其中6例BCR-ABL基因阳性,说明此6例患者存在隐匿的t(9;22)。DC-DF-FISH及RT-PCR阳性检出率为34·6%(9/26)。结论双色双融合荧光原位杂交技术具有高度的准确性、可靠性,是检测ALL患者BCR-ABL基因重排的可靠方法,适用于ALL的诊断、疗效判定及微小残留病灶的检测。
Objective To investigate the value of dual-color-dual-fusion fluorescence in situ hybridization (DC-DF-FISH) in the gene recombination of adult acute lymphoblastic leukemia BCR-ABL. Methods Twenty - six cases of acute lymphoblastic leukemia diagnosed in our hospital were selected. The immunophenotypes were detected by flow cytometry. R - banding technique, two - color double - fusion interphase fluorescence in situ hybridization and reverse transcription - polymerase chain reaction RT-PCR) were used to detect chromosomal karyotype and BCR-ABL fusion gene, and the results were compared. Results Of the 26 patients, all cases of Ph chromosome and BCR-ABL gene were identified as B cells or T / B dual phenotype lymphocytic leukemia. Ph chromosome was detected by conventional banding technique in 3 cases (positive rate was 11 · 5%). The BCR-ABL gene positive was detected by DC-DF-FISH and RT-PCR (reversetranscriptase polymerase chain reaction). All of these 3 patients were Ph positive ALL. Twenty-three patients with Ph chromosome were detected positive by PCR-RFLP-PCR and RT-PCR. The 6 patients had occult t (9; 22). The positive detection rate of DC-DF-FISH and RT-PCR was 34.6% (9/26). Conclusion Two-color double fusion fluorescence in situ hybridization (FISH) is a reliable and reliable method for the detection of BCR-ABL gene rearrangements in patients with ALL. It is suitable for the diagnosis of ALL, the determination of therapeutic effect and the detection of minimal residual lesions.