应用荧光原位杂交技术动态观察急性早幼粒细胞白血病患者PML-RARα融合基因的变化

PML/RARα fusion gene detection by fluorescence in situ hybridization technique in the diagnosis and efficacy evaluation of patients with acute promyelocytic leukemia

目的:探讨荧光原位杂交(FISH)技术在急性早幼粒细胞白血病(APL)诊断及疗效判断中的作用。方法:对初发的急性白血病患者行常规形态学、细胞化学染色,并采用FISH技术检测PMLRARα融合基因,流式细胞术分析白血病细胞的免疫表型,对治疗过程中患者PMLRARα融合基因阳性细胞比例进行动态观察。结果:FISH对标准的PML-RARα融合基因的检出与形态学和临床符合率为100%,对流式细胞学免疫表型不符合的APL诊断的1例作出了明确诊断,对累及17号染色体的附加染色体异常也有一定的提示作用,对APL治疗过程中分子生物学缓解的判断非常直观。结论:FISH技术检测PMLRARα融合基因,实验方法简便、快速、直观和准确,具备了用以确定白血病类型,指导临床治疗和进行治疗后的疗效监测的作用。

Objective:To evaluate the fluorescence in situ hybridization (FISH) technique in the diagnosis and efficacy judgment in patients with acute promyelocytic leukemia(APL).Method:Routine morphology, cytochemical staining, flow cytometry and FISH technique were used to get a final diagnosis of de novo APL patients. FISH was also utilized to trace the PML-RARα fusion gene changes in patients during the courses of treatment.Result:The compatibility between the results of PML-RARα fusion gene and the morphological results and/or clinical diagnosis was 100%. In a patient with unexplainable immunophenotype, PML-RARα fusion gene was detected by FISH technique and the diagnosis of APL was made. In another case, appendix chromosome abnormal involving the long arm of chromosome 17 was implied on FISH photograph. FISH technique is also an objective and direct tool for the evaluation of the biological remission of APL, which has been used as a good prognostic indicator for long term survival of the APL patients.Conclusion:FISH technique for PML-RARα fusion gene detection is a simple, rapid, accurate and direct method. It can be used to diagnose, guide the suitable chemotherapy regimen and supervise the efficacy of the treatment in patients with APL.