急性髓系白血病CEBPA基因突变与临床特点的关系  

The clinical characteristics of acute myeloid leukemia patients with CEBPA gene mutations

作　　者：吴继颖[1] 范进婷[1] 赵芳[1] 马建华[1] 冯雅青[1] 

机构地区：[1]大同市第三人民医院,山西大同037006

出　　处：《临床医药实践》2015年第12期899-902,共4页Proceeding of Clinical Medicine

摘　　要：目的:研究伴有CCAAT增强子结合蛋白A(CEBPA)基因突变急性髓系白血病患者的临床特点。方法:采用聚合酶链式反应(PCR)扩增产物片段长度分析及序列分析方法对57例初发急性髓系白血病(AML)患者进行CEBPA基因突变检测。结果:CEBPA基因突变阳性6例,占10.53%,其中单突变3例,双突变3例;FAB分型AML-M2型3例、AML-M4型2例,AML-M5型1例。CEBPA基因突变阳性患者初诊时血小板计数明显低于突变阴性患者(P<0.05),差异有统计学意义。初诊时白细胞计数、血红蛋白值、骨髓原始细胞比例和中位年龄方面比较差异无统计学意义(P>0.05)。CEBPA基因突变患者染色体常见正常核型及9q-(6例中4例),1例AML-M2患者伴有FLT3-ITD基因突变。6例患者中5例达完全缓解,完全缓解率83.33%,高于CEBPA突变阴性患者(71.74%),但差异无统计学意义(P>0.05)。结论:CEBPA基因突变患者临床特点与疾病状态相关,对初诊AML患者检测CEBPA基因突变,有利于预后评估和指导治疗。Objective： To investigate the clinical characteristics of acute myeloid leukemia（ AML） with CEBPA gene mutations. Methods： CEBPA gene mutations were detected in 57 patients with newly diagnosed AML by using polymerase chain reaction（ PCR） followed by sequence analysis and fragment length analysis. Results： The incidence of mutation was 10. 53% in total AML patients,including 3 with simple mutation and 3 with double mutations. 3 AML- M2 and 2 AML- M4. The characteristics of 51 CEBPA wild type patients vs that of 6 CEBPA mutation patients was as follow,CEBPA mutations were significantly associated with a lower platelet counts in the peripheral blood,（ P〈0. 05）. No statistic difference was found in WBC counts,hemoglobin levels,percentage of blasts in bone marrow and median age（ P〈0. 05）. 4 in 6 CEBPA mutation patients with normal karyotype and 9q-,and while co- existing of FLT3- ITD mutation was observed in AML- M2. 5 in 6 CEBPA mutation cases was got complete remission（ CR）. CR rate was 83. 33% in the CEBPA＋patients. It was higher than 71. 74% in the CEBPA- patients,but the result in CEBPA＋group was not statistically significant compared with that in CEBPA-group（ P〈0. 05）. Conclusion： CEBPA mutation has a certain correlation and laboratory feature. It is necessary to detect CEBPA mutation in newly diagnosed AML patients,which might help to molecular classification and treatment.

关 键 词：髓系白血病 急性 基因 CCAAT增强子结合蛋白A DNA突变分析 

分 类 号：R733.71[医药卫生—肿瘤]