实时荧光定量PCR检测PML-RARα融合基因的临床应用研究

Investigation of PML-RARα fusion gene in acute promyelocytic leukemia by real-time quantitative reverse transcription PCR

目的利用 PML-RARα融合基因作为标志物,应用实时荧光定量 PCR 技术,监测急性早幼粒细胞白血病(APL)微小残留病(minimal residual disease,MRD)患者体内病毒的状态,探讨预测 APL 复发风险的方法。方法利用本实验室建立的定量检测 APL 患者 PML-RARα融合基因的方法,对25例处于初诊、完全缓解(complete remission,CR)、复发等不同阶段的 APL 患者进行了PML-RARα融合基因的定量检测,并对其中6例患者的MRD状态进行了动态监测。结果应用荧光定量 PCR 技术分析患者初诊、CR 和复发状态的 PML-RARα基因对数值(lg)水平,结果显示有统计学意义(x^2=6.847,P<0.05);随访期患者的 PML-RARα对数值(lg)水平变化较大:初诊时较高(-0.61±0.79),CR 时下降(-1.31±0.62),复发时又出现上升(-0.57±0.44),提示若该患者在CR 时的对数值呈现上升趋势,患者复发的机率大。结论应用实时荧光定量(RQ)-PCR 技术定量检测 PML-RARα融合基因,对监测 APL 患者 MRD 状态具有临床适用性,随访期的 MRD 动态追踪监测具有预后价值。

Objective To investigate the relapse risk assessment for patients with acute promyelocytic leukemia （APL） through testing PML-RARα fusion gene by real-time quantitative polymerase chain reaction （RQ-PCR）. Methods Relative copies of PML-RARα fusion gene were measured in 25 patients with APL in phases of first diagnosis, complete remission （CR） and relapse. The minimal residual disease （MRD） situations were also monitored in 6 of the 25 patients. Results Different PML-RARα fusion gene expression levels were observed in patient groups of different phases of the disease. （ P 〈 0. 05 ）. The expression level was high in patients at first diagnosis, and low during CR and high again when relapsed. Conclusion PML-RARα fusion gene test by RQ-PCR could be used for monitoring MRD in patients with APL. A higher expression level in the CR phase may be suggestive of a relapse.