CCAAT/增强子结合蛋白α基因突变急性髓系白血病患者临床特征及预后  

The clinical characteristics and prognosis of de novo acute myeloid leukemia patients with CCAAT/enhancer binding protein α mutations

作　　者：王露[1] 苏龙[1] 谭业辉[1] 胡瑞萍[1] 崔久嵬[1] 高素君[1] 李薇[1] 

机构地区：[1]吉林大学第一医院肿瘤中心,长春130021

出　　处：《白血病．淋巴瘤》2015年第5期274-277,286,共5页Journal of Leukemia & Lymphoma

摘　　要：目的 分析CCAAT/增强子结合蛋白α（CEBPA）基因突变急性髓系白血病（AML）患者临床特征及预后.方法 回顾分析208例初诊AML患者CEBPA基因突变发生率、临床特征、治疗效果及预后.结果 208患者中,CEBPA突变患者37例（17.8％）,其中29例为双突变,8例为单突变.1 17例正常核型患者中CEBPA突变28例（23.9％）.CEBPA双突变患者具有以下临床特征：初诊时年龄小,大部分（82.8％,24/29）患者为M1型与M2型,初诊时表现为外周血白细胞数高、血红蛋白水平高、血小板数低,白血病细胞高表达CD7、CD34及HLA-DR.CEBPA双突变患者总生存率优于无突变者（2年总生存率：100％比75.1％,P=0.045）.结论 CEBPA双突变为AML预后良好标志之一.Objective To explore the clinical characteristics and prognosis of acute myeloid leukemia （AML） patients with CCAAT/enhancer binding protein α （CEBPA） mutations.Methods 208 patients with de novo AML were retrospectively analyzed with regard to frequency of CEBPA mutations,clinical characteristics,therapeutic response and long-term outcome.Results CEBPA mutations were detected in 37 patients （17.8 %）,with 29 cases of double mutations and 8 cases of single mutation.In 117 cases of patients with normal karyotype,28 cases （23.9 %） were detected with CEBPA mutations.As compared with no CEBPA mutation,the following characteristics were observed in patients with CEBPA double mutations.Presented with younger age at diagnosis,82.8 % （24/29） of the patients were M1 and M2.Presented with higher peripheral white blood cell count,higher hemoglob in and low platelet count.And increases of CD7,CD34 and HLA-DR expression.Compared with those without mutation,patients with biCEBPA mutations had better overall survival （OS） （2-years OS：100 % vs 75.1%,P =0.045）.Conclusion BiCEBPA mutation is one of the favorable prognosis indicators.

关 键 词：白血病 髓样 急性 CEBPA突变 免疫表型 预后 

分 类 号：R733.71[医药卫生—肿瘤]