正常核型急性髓系白血病CEBPA基因突变患者临床特征及疗效研究  

Clinical Characteristics and Therapeutic Efficacy of Normal Karyotype AML Patients with CEBPA Mutation

作　　者：杜雅哲 苏龙[1] 李薇[1] 喻萍[1] 谭业辉[1] 林海[1] 高素君[1] 

机构地区：[1]吉林大学白求恩第一医院肿瘤中心,吉林长春130021

出　　处：《中国实验血液学杂志》2014年第1期16-19,共4页Journal of Experimental Hematology

摘　　要：本研究旨在分析正常核型急性髓系白血病(acute myeloid leukemia,AML)CEBPA基因突变患者的临床特征和疗效。回顾性分析我中心55例初诊AML患者CEBPA基因突变率、临床特征及治疗疗效。结果表明:本组患者CEBPA突变患者20例,发生率为36.4%,其中17例为双侧突变,3例为单侧突变;与CEBPA无突变AML患者相比,CEBPA突变患者具有以下临床特征:75.0%患者为M1与M2;初诊时表现为高血红蛋白〔(98.30±20.33)g/L对(81.69±23.74)g/L;t=2.625,P=0.011〕及低血小板〔(33.30±38.27)×109/L对(64.79±61.60)×109/L;u=2.062,P=0.044〕;白血病细胞高表达CD7及CD34。近期疗效显示,CEBPA突变患者CR率72.2%,高于CEBPA无突变患者68.6%,但无统计学差异(P>0.05)。结论:CEBPA突变AML多见于AML-M1和M2,且伴高血红蛋白和低血小板症,表达CD7及CD34;近期疗效尚好。国人AML患者CEBPA突变率可能高于国外报道。This study was aimed to explore the clinical characteristics and therapeutic efficacy of normal karyotype AML patients with CEBPA mutations.Fifty-five de novo AML patients with normal karyotype were retrospectively analyzed with regard to frequency of CEBPA mutation,clinical characteristics and therapeutic response.The results showed that CEBPA mutation was detected in 20 patients （36.4％）,among them 17 cases displayed double mutations,three cases were with single mutation.The clinical characteristics of patients with CEBPA mutation displayed as follows：75％ of AML patients with CEBPA mutation were AML-M1 and AML-M2,the hemoglobin level at newly diagnosis was higher and the platelet count at newly diagnosis time was lower than those of AML patients without CEBPA mutation [（98.30 ± 20.33） g/Lvs （81.69 ± 23.74） g/L（P＜0.05）; and （33.30± 38.27） ×109 /L vs （64.79 ± 61.60）× 109/L （P ＜0.05）].The leukemic cells highly expressed CD7 and CD34.The therapeutic efficacy of 1 cycle for AML patients with CEBPA mutation was satisfactory （72.2％）,was higher than that of patients without CEBPA mutation （68.6％）,but there was no statistical significance（P ＞ 0.05）.It is concluded that AML with CEBPA mutation is more observed in AML-M1 and AML-M2,and accompanies by high level of hemoglobin and lower platelet count,expression of CD7 and CD34.Early-term therapeutic efficacy is satisfactory.The frequency of CEBPA mutation may be higher in Chinese patients with AML compared with that reported in Western world.

关 键 词：急性髓系白血病 CEBPA突变 完全缓解率 免疫表型 

分 类 号：R733.71[医药卫生—肿瘤]