论文部分内容阅读
目的检测初治急性早幼粒细胞白血病(APL)患者PML/RARα融合基因异构体类型及表达水平,建立检测微小残留病的标准拷贝数基线。方法应用实时定量RT-PCR方法,采用Taqman探针技术测定32例APL初治患者骨髓标本的PML/RARα融合基因mRNA3种异构体表达水平,并比较异构体之间临床特征有无差异。结果32例PML/RARα融合基因阳性的APL初治患者中21例为PML/RARα融合基因长型异构体,11例为融合基因短型异构体,初治患者融合基因表达量中位数为1.44%(1.29%±1.46%)。长型及短型异构体标准拷贝数(normalized copy number,NCN)中位数分别为1.40%(1.46%±1.18%)和1.28%(1.39%±1.51%),无明显统计学差异,P<0.05,融合基因长型异构体患者在发病时外周血白细胞总数为6.08±13.21(×109/l)明显低短型患者15.11±20.26(×109/l),P<0.01。结论建立了检测APL微小残留病的高敏感性、高特异性的实时定量RT-PCR方法,对分析治疗过程的病情变化和指导治疗方案具有重要意见。
Objective To detect the type and expression of PML / RARα fusion gene in patients with newly diagnosed acute promyelocytic leukemia (APL) and to establish a standard copy number baseline for the detection of minimal residual disease. Methods Real-time quantitative RT-PCR was used to detect the expression level of 3 mRNA isoforms of PML / RARα fusion gene in 32 cases of APL-treated bone marrow specimens by Taqman probe technique, and to compare the clinical characteristics between the isomers. Results Twenty-one of the 32 APML patients with positive PML / RARα fusion gene were long-form PML / RARα fusion isoforms and 11 were short-form fusion fusion fusion genes. The median number of fusion gene expression 1.44% (1.29% ± 1.46%). The median of normalized copy number (NCN) of long and short isoforms were 1.40% (1.46% ± 1.18%) and 1.28% (1.39% ± 1.51%), respectively. There was no significant difference between P <0.05. The total number of leukocytes in peripheral blood of patients with fusion long isoforms was 15.11 ± 20.26 (× 109 / l), P <0.01, when the total number of peripheral white blood cells was 6.08 ± 13.21 (× 109 / l). Conclusion The real-time quantitative RT-PCR method for the detection of minimally-isolated residual disease in APL has been established. It has important opinions on the analysis of the changes of the course of the disease and the treatment plan.