荧光原位杂交在急性早幼粒细胞白血病治疗前后的研究

Study on the application of fluorescence in situ hybridization method in acute promyelocytic leukemia

目的 探讨荧光原位杂交技术在急性早幼粒细胞白血病 (APL)诊断及其微小残留病 (MRD)检测中的价值。方法 应用PML RARα易位探针对 8例初诊和 6例完全缓解的急性早幼粒细胞白血病和 1例正常对照进行t(15 ;17)融合基因检测 ,并与经典细胞遗传学结果进行比较分析。结果 G显带分析 8例初诊患者均为t(15 ;17) ,6例缓解患者中 3例为t(15 ;17) ,3例为正常核型。FISH检测显示 ,8例初诊和 5例缓解患者均存在PML RARα融合基因红 绿荧光信号 ,只有 1例缓解患者和正常对照为正常 15红色信号和 17绿色信号。研究发现 2例M3V患者PML RARα融合基因阳性率达 80 %以上 ,一般M3阳性率在 6 0 %左右 ,缓解中的患者阳性率普遍下降在 2 0 %以下 ,另外发现 2例 15三体患者和 2例伴RML RARα融合基因的同时增加 1条 17号染色体的绿色信号。结论 FISH技术是一种高灵敏度、高分辨率的分子遗传学新技术 ,对M3的诊断及缓解后残余的畸变肿瘤细胞检测具有重要意义。

Objective To investigate the value of fluorescence in situ hybridization (FISH) in the detection MRD and diagnosis of APL(acute promyelocytic leukemia).Methods Eight cases at initial diagnosis,6 cases at complete remission and 1 case normal control were detected by PML/RARα translocation probe.The results were compared with that detected by conventional cytogenetic methods.Results Being studied by chromosomal G-banding,8 cases at initial diagnosis were all showed positive t(15,17),3 of 6 cases with APL during complete remission showed positive t(15;17) and the other 3 showed normal karyotypes.Being studied by FISH,8 cases at initial diagnosis and 5 cases during complete remission all showed PML/RARα fusion gene red/green signal.Only one case of CR and normal control were showed normal chromosomal 15 red signal and chromosomal 17 green signal.The percentage of cells with PML/RARα fusion gene in 2 cases of M3V were found more than 80%.The positive percentage in M3 was about 60%.However the percentage in CR patients were found less than 20%.Conclusion FISH technique is a new sensitive,distinguished cytogenetics,it has important value in the diagnosis of APL and the detection of MRD.