Objective: To investigate EVI1 expression and its associated clinical and cytogenetic characteristics in 447 acute myeloid leukemia (AML) patients. Methods: EVI1 expressions were measured in 447 AML cases from Jan. 2007 to Apr. 2015 to couple with clinical, cytogenetic and mutations' characteristics to summarize the features of AMLs with high EVI1 expression. Results: 17.9% of AML were high EVI1 expression (EVI1 +), and the remainder low EVI1 expression (EVI1-). No significant differences between the two groups in terms of age, sex, hemoglobin level, white blood cell count and platelet count were observed. More M0, M5 and M6 subtypes were observed in EVI1+ group (P= 0.027, 0.004 and 0.011, respectively). Cytogenetic abnormalities of 11q15, 11q23/MLL, 3q26, -7/7q- and t (9;11) were observed more frequently in EVI1 + group (P<0.001, <0.001, <0.001, <0.001, =0.014, respectively). Normal karyotype, inv (16), t (8;21) were observed more frequent in EVI1- group (P=0.001, 0.009, 0.002, respectively). EVI1 + was more observed in high risk cytogenetics. Mutation of NPM1 was more observed in EVI1- group (P <0.001). Remission rate in EVI1 + group was significantly lower than EVI1- group (P<0.001). Leukemia-free survival was improved in EVI1 + AML patients undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT). Conclusions: High EVI1 expression was more observed in FAB subgroup M5, harbored more cytogenetic abnormalities of 11p15, 11q23/MLL, 3q26 rearrangement, -7/7q- and t (9;11). Remission rate of high EVI1 expression AML was lower, which could be improved by allo-HSCT.
目的: 分析447例急性髓系白血病（AML）患者EVI1基因的表达及其临床和细胞遗传学特征。
方法: 检测2007年1月至2015年4月收治的447例初诊AML患者的EVI1基因表达水平，分析其临床和细胞遗传学资料以及部分患者的分子学突变资料，总结EVI1基因高表达患者的特征。
结果: EVI1基因高表达者占17.9%，低表达者占82.1%。两组患者的年龄、性别、外周血血红蛋白水平、白细胞计数、血小板计数差异均无统计学意义；EVI1基因高表达组M0、M5和M6患者比例较低表达组显著增高（P值分别为0.027、0.004和0.011）。在细胞遗传学特征方面，EVI1基因高表达组11p15重排、11q23/MLL重排、3q26重排、−7/7q−以及t (9;11）患者比例较低表达组显著增高（P值分别为<0.001、< 0.001、<0.001、<0.001、0.014）；而正常核型、inv (16）、t (8;21）在EVI1基因低表达组占优势（P值分别为0.001、0.009、0.002）。EVI1基因高表达更多见于细胞遗传学高危组。NPM1突变更倾向分布于EVI1基因低表达组（P<0.001）。EVI1基因高表达组缓解率明显低于低表达组（P<0.001）。异基因造血干细胞移植（allo-HSCT）显著改善EVI1基因高表达者的无白血病生存。
结论: EVI1基因高表达多见于M5；核型分布中11p15重排、11q23/MLL重排、3q26重排、−7/7q−以及t (9;11）占优势；缓解率低，allo-HSCT能够改善预后。