WT1基因在骨髓增生异常综合征及急性白血病中的表达与临床相关性研究

Expression of WT1 gene in acute leukemia and myelodysplastic syndrome and its clinical correlation

目的研究WT1基因在骨髓增生异常综合征(myelodysplastic syndrome,MDS)及急性白血病(acute leukemia,AL)中的表达情况,探讨WT1基因与AL及MDS病情进展的关系和临床意义。方法采用逆转录-聚合酶链反应检测60例AL患者(包括4例post MDS-AL患者),48例MDS患者,10例正常人外周血中WT1基因的表达,并进行分析。结果 60例AL患者的WT1阳性率为73.3%,4例postMDS-AL患者的WT1阳性率100%,48例MDS患者WT1阳性率为27.1%,10例正常人的WT1阳性率0%。MDS组、post MDS-AL、对照组、实验组两两相比有统计学差异(P<0.05)。急性髓细胞白血病(acute myeloid leukemia,AML)组中的WT1阳性率为70.8%,急性淋巴细胞白血病(acute lymphoblastic leukemia,ALL)组中的阳性率为83.3%,RA/RAS组WT1阳性率8.3%,RCMD组WT1阳性率7.1%,RAEB1组WT1阳性率33.3%,RAEB2组WT1阳性率53.3%。随着WT1基因表达水平的增高,完全缓解(CR)率有明显下降的趋势,CR后复发又显著升高。动态随访7例AL患者、4例MDS患者,WT1基因随病情变化而改变基因表达。结论 WT1基因在AL、MDS均高表达,WT1基因的表达与疾病的进展呈正相关。其可作为临床上对AL、MDS病情的高危评估,预测病情变化和判断预后及动态监测治疗效果的重要指标之一。

Objective To investigate the expression of WT1 gene in acute leukemia （AL） and myelodysplastic syndrome （MDS）, and to explore its clinical implications. Methods The expression of WT1 gene was measured in 60 patients with acute leukemia （including 4 post-MDS- AL） , 48 patients with myelodysplastic syndrome, 10 normal controls by reverse transcription- polymerase chain reaction （RT-PCR） method. Results The positive rate of WT1 gene expression in 48 MDS and 60 AL were 27. 1% and 73.3% ; And the positive rate was 100% in 4 post-MDS-AL; And no expression in 10 normal controls. Compared with the control group and the experimental group, the differences were significant （P 〈 0. 05 ）. The positive rate of WT1 gene expression in RA/RAS was 8.3%, RCMD was 7.1%, RAEB1 was 33.3%, RAEB2 was 53.3%, acute myeloid leukemia （AML） was 70. 8%, and acute lymphoblastic leukemia （ALL） was 83.3%. As the WT1 gene expression level increased, the CR rate had obvious decline; And the rate was increased after relapse. Four cases of MDS patients and 7 AL patients with disease progression were followed up, the result showed that the expression of WT1 gene was changed along with the illness changes. Conclusion The expression of WT1 gene is highly expressed in acute leukemia and all types of MDS. WT1 gene expression is positively correlated with the progress of the disease. WT1 gene can be used to assess the risk, condition, and therapeutic effect, and to monitor the progression of disease in MDS and AL patients.