荧光定量PCR检测临床治疗后白血病患者基因的表达

Real-time fluorescence quantitative PCR detection of fusion genes in leukemia diagnosis

目的探讨利用荧光定量PCR(RQ-PCR)检测经临床治疗后的白血病患者基因表达的临床价值。方法纳入2013年6月至2015年4月因白血病进行治疗的患者30例,采用RQ-PCR方法,对14例疑似慢性粒细胞性白血病(CML)的患者和16例疑似急性早幼粒细胞性白血病(APL)的患者进行诊断,分别在不同时间段分别对两组患者的融合基因BCL/ABL和PML-PARa进行检测。结果在14例疑似CML患者中共有11例患者经融合基因检测确诊;另16例疑似APL患者中,共有11例患者通过基因融合方式确诊。两组患者均接受为期6个月和12个月的治疗,与初诊比较,APL患者中PML-PARa阴性率6个月与12个月、18个月、24个月明显升高,12个月、18个月、24个月时PML-PARa阴性率更高,差异有统计学意义(P<0.05);APL患者中12个月、18个月、24个月的PML-PARa阴性率无统计学意义(P>0.05)。两种疾病在血液学进展或复发前可发现融合基因显著升高。结论采用RQ-PCR检测融合基因对于CML、APL的诊断、疗效观察和微小残留病的监测有重要价值。

Objective To study the application of real time quantitative RQ-PCR detection of fusion gene in chronic myeloid leukemia （CML） and acute promyelocytic leukemia （APL）.Methods 14 cases of suspected CML patients and 16 cases of suspected APL patients were diagnosed by RQ-PCR method respectively, in the process of diagnosis and treatment.The fusion gene BCR/ABL and PML/RARa were detected and differences in the therapeutic effect of CML hydroxyurea＋interferon （Hu＋IFNα） and imatinib （IM） was observed.Results Among 14 suspected patients, 11 cases were diagnosed as CML by fusion gene detection;among 16 suspected patients, 11 cases were diagnosed as APL this method.6 and 12 months post-treatment, fusion gene expression decreased significantly, the difference was significant when compared with the first visit （P〈0.01）.The significant increase of fusion gene can be found prior to hematological progress or the diseases relapse.Conclusion The detection of fusion gene had an important value in CML and APL diagnosis, observation and monitoring of minimal residual disease.