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目的探讨八探针间期荧光原位杂交技术(FISH)在检测急性髓系白血病(AML)常见细胞遗传学异常中的价值。方法采用八探针FISH系统,即以针对AML1/ETO融合基因、PML-RARα融合基因、CBFβ/MYH11融合基因、MLL基因、P53基因、De(l5q)、-7/Del(7q)、Del(20q)八种DNA探针对40例AML患者细胞遗传学异常进行检测,并与常规G显带核型分析技术相比较。结果 40例AML中,共22例多探针FISH检出了细胞遗传学改变,总阳性率为57.50%,包括:AML1/ETO融合基因、PML-RARα融合基因、MLL基因断裂重排、Del(5q)、-7/Del(7q)、P53基因缺失、8号染色体三体7种细胞遗传学异常。而常规G显带核型分析技术(CCG)对于相对应的遗传学异常仅检出8例,另检出3例八探针FISH不能检出的异常,总阳性率为27.50%。结论 FISH八探针诊断技术较常规G显带核型分析技术具有省时、准确、高效等优点,可作为急性髓系白血病临床诊断的一个重要手段。
Objective To investigate the value of eight probe interphase fluorescence in situ hybridization (FISH) in the detection of common cytogenetic abnormalities in acute myeloid leukemia (AML). Methods Eight probe FISH system was used to detect the expression of AML1 / ETO fusion gene, PML-RARα fusion gene, CBFβ / MYH11 fusion gene, MLL gene, P53 gene, De (l5q), -7 / Del 20q) eight kinds of DNA probes in 40 patients with AML cytogenetic abnormalities were detected and compared with the conventional G-banding karyotype analysis technology. Results A total of 22 AML1 / ETO fusion genes, PML-RARα fusion gene, MLL gene rearrangement, Del ( 5q), - 7 / Del (7q), P53 gene deletion, chromosome 8 trisomy 7 kinds of cytogenetic abnormalities. The conventional G-banding karyotype analysis (CCG) detected only 8 cases of corresponding genetic abnormalities, and the other 3 cases detected abnormalities of 8-probe FISH, the total positive rate was 27.50%. Conclusion The FISH eight-probe technique is more time-saving, accurate and efficient than conventional G-banding karyotyping. It can be used as an important tool in the clinical diagnosis of acute myeloid leukemia.