间期荧光原位杂交技术在慢性粒细胞白血病诊断中的应用价值

VALUE OF INTERPHASE FLUORESCENCE IN SITU HYBRIDIZATION IN DIAGNOSING CHRONIC MYELOID LEYKEMIA

目的探讨间期荧光原位杂交技术(I-FISH)在慢性粒细胞白血病(CML)诊断中的应用价值。方法同时采用核型分析、逆转录-巢式聚合酶链反应(PCR)以及I-FISH 3种检测方法,对3例临床表现、细胞形态学和细胞化学提示CML可能的患者进行检测。结果核型分析均未发现Ph染色体和其他异常,PCR也均为阴性结果,而I-FISH测得3名患者骨髓中含融合基因的细胞百分率分别为59.0%、71.8%、33.7%,远高于阳性判断值。结论对于仅发生小片断易位或不产生主要bcr/abl融合基因型的慢性粒细胞白血病患者,I-FISH是一种很有价值的确诊手段。

Objective To investigate the value of interphase fluorecsence in situ hybridization（I-FISH） in diagnosis of chronic myeloid leukemia （CML）. Methods Karyotype analysis, RT -PCR and I-FISH were used to detect 3 CML suggested by clinical manifestation, cytomorphology and cytochemistry. Results Karyotype analysis failed to discover either Ph chromosome or other chromosome abnormalities. The bcr/abl fusion gene detected by RT-PCR was also negative; but the positive rate of this fusion gene by I-FISH was 59.0%, 71.8% and 33.7% respectively. Conclusion I-FISH is a good means of diagnosis for those CML only accompanied with small fragment translocation or having no maior bcr/abl fusion gene.