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目的:评价多探针荧光原位杂交(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,探讨细胞遗传学异常与临床诊断、治疗、预后的关系。方法:采用针对AML/MDS的FISH多探针诊断系统,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、Del(5q)、Del(7q)、Del(20q)8种DNA探针对40例患者进行多探针FISH检测,同时联合染色体核型、临床资料进行研究。结果:40例AML中,共22例多探针FISH检出了细胞遗传学改变,包括:AML1/ETO、PML-RARα、MLL基因断裂重排、Del(5q)、Del(7q)、P53基因缺失、8号染色体三体7种细胞遗传学异常。而常规染色体核型分析仅检出11例遗传学异常。多探针FISH与染色体核型分析的总阳性率分别为57.50%及27.50%。AML1/ETO、PML/RARα阳性者首次诱导化疗效果较理想;而Del(7q)、MLL基因断裂重排阳性、伴复杂细胞遗传学改变者可能预示不良预后。结论:FISH多探针诊断系统检测AML患者常见遗传学异常更省时、准确、高效,有利于完善白血病的分层诊断及指导临床个体化治疗。
Objective: To evaluate the value of multi-probe fluorescence in situ hybridization (FISH) in the detection of common cytogenetic abnormalities in acute myeloid leukemia (AML) and to explore the relationship between cytogenetic abnormalities and clinical diagnosis, treatment and prognosis. Methods: The FISH multi-probe diagnostic system for AML / MDS was used to detect the AML1 / ETO fusion gene, PML-RARα fusion gene, CBFβ / MYH11 fusion gene, MLL gene, P53 gene, Del (5q) ), Del (20q) eight kinds of DNA probes in 40 patients by multi-probe FISH detection, combined with chromosome karyotype, clinical data. Results: A total of 22 AML1 / ETO, PML-RARα, MLL gene rearrangements, Del (5q), Del (7q), P53 Missing, chromosome 8 trisomy 7 kinds of cytogenetic abnormalities. The conventional chromosome karyotype analysis only detected 11 cases of genetic abnormalities. The total positive rates of multi-probe FISH and karyotype analysis were 57.50% and 27.50%, respectively. AML1 / ETO, PML / RARα positive for the first time the effect of chemotherapy is more ideal; and Del (7q), MLL gene rearrangement positive, with complex cytogenetic changes may predict poor prognosis. Conclusion: FISH multi-probe diagnostic system to detect common genetic abnormalities in patients with AML is more time-saving, accurate and efficient, which is conducive to improving the stratification diagnosis of leukemia and guiding clinical individualized treatment.