荧光原位杂交检测维A酸受体α基因重排对急性早幼粒细胞白血病的诊断价值

Value of fluorescence in situ hybridization in detecting retinoic acid receptor alpha rearrangement for the diagnosis of acute promyelocytic leukemia

目的:研究荧光原位杂交(fluorescence in situhybridization,FISH)检测维A酸受体α(RARα)基因重排对于急性早幼粒细胞白血病(acute promyelocytic leukemia,APL)的诊断价值。方法:对骨髓形态学检查呈典型的APL改变而常规染色体R显带核型分析t(15;17)及RT-PCR检测RARα基因重排两者皆为阴性的4例急性白血病患者采用双色荧光原位杂交检测RARα基因的重排。结果:2例FISH检测为阴性,1例80%的细胞中显示早幼粒白血病基因(PML)/RARα融合信号,1例PML/RARα融合基因信号阴性,但99.8%的细胞显示RARα基因17q21断裂点以下基因的复制及重排。结论:应用FISH技术可以在部分APL患者中检出核型及RT-PCR技术无法检出的RARα基因重排,有助于APL的确诊。

Objective To study the value of fluorescence in situ hybridization （FISH） in detecting retinoic acid receptor alpha （RARα） rearrangement for the diagnosis of acute promyelocytic leukemia （APL）. Methods A dual color break apart rearrangement probe for RARα gene and a dual color translocation probe for promyelocytic leukemia （PML）/ RARα fusion gene were used to perform FISH in 4 patients with typical morphological changes of APL but lacking both t（15;17） and PML/RARα fusion transcript through karyotypic analysis and RT-PCR assay. Results Of the 4 patients, two had negative results, one showed a fusion signal indicating PML/RARα fusion gene in 80% of interphase cells, and the other one had no PML/RARα fusion gene but showed a duplication and rearrangement of RARα gene, Conclusions It is possible to detect RARα rearrangement by FISH which could not be found by karyotypic analysis or RT-PCR assay among a part of APL patients. Thus, it is helpful for the diagnosis of APL.