多探针荧光原位杂交检测急性髓系白血病常见细胞遗传学异常

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。

Multiprobe fluorescence in situ hybridization panel in detection of the common cytogenetic abnormalities of acute myeloid leukemia

AIM: To evaluate the value of multiprobe Fluorescence in situ hybridization(FISH) panel in detection of the common cytogenetic abnormalities in acute myeloid leukemia(AML).And to investigate its association with clinical diagnosis,chemotherapy and prognosis.METHODS: Using the multiprobe AML/MDS panel designed to detect up to eight different FISH probes,which was for AML1/ETO transfusion gene,PML-RARα transfusion gene,CBFβ/MYH11 transfusion gene,MLL breakapart,P53 deletion,Del(5q),Del(7q),Del(20q),40 cases of AML were investigated.The conventional karyotype analysis and the information about the treatment responses were also used for assessing.RESULTS: 22 of the 40 AML cases were found to carry 7 types of cytogenetic abnormalities by multiprobe FISH panel including AML1/ETO transfusion gene,PML-RARα transfusion gene,MLL breakapart,P53 deletion,Del(5q),Del7q and trisomy 8.However conventional karyotype analysis only discovered 11 cases with the corresponding cytogenetic abnormalities.the positive ratio was 57.5% in multiprobe FISH panel higher than that in karyotype analysis(27.50%).Patiens with AML1/ETO or PML-RARa transfusion gene are easily to reach CR in the first induction chemotherapy,while the Del(7q),MLL breakapart,complex cytogenetic abnormalities may indicate poor prognosis.CONCLUSION: Mutiprobe FISH panel is more rapid,accurate and effective for detecting the common cytogenetic abnormalities in AML,compared with the conventional karyotype analysis and common FISH analysis.