Abstract:

Objective To investigate the CCAAT-enhancer binding protein-alpha(CEBPA) gene mutation in the patients with acute myeloid leukemia( AML) and to clarify its clinical significance．Methods The bone marrow or peripheral blood samples were collected from 279 AML patients and 40 healthy volunteers, respectively.The cell morphology and the proportion of  bone marrow blast counts (BM blast) were observed by Switzerland staining.CEBPA,FLT3-ITD,NPM1 and C-KIT gene mutations were detected by PCR and sequence analysis.Karyotype analysis was performed by  G-banding technique.Results Among 279 newly diagnosed  AML patients,35(12.5%) had CEBPA gene mutation.The detection rate in M2 subtype patients was significantly higher than those in other subtypes patients(P<0.05).Of 35 CEBPA mutation patients,31 had double mutations, and the remaining 4 had single mutation.CEBPA mutations were all negative in 40 healthy volunteers.CEBPA mutation was common in normal karyotype patients. Compared with the patients with  wild-type CEBPA gene,the patients with CEBPA double mutations had higher white blood cell(WBC) count,red blood cell (RBC) count,and hemoglobin (HGB) level (P<0.05)  and lower age and platelet(PLT) count(P<0.05).However,there was no difference between the patients with and without CEBPA mutation in the gender,proportion of BM blast   and the incidence of FLT3-ITD,NPM1,and C-KIT gene mutations (P>0.05).In terms of treatment,the remission rates of first induction treatment were 84.0% and 80.5% in CEBPA double mutation and wild-type patients,there was no statistically significant difference between two groups (P> 0.05).Conclusion CEBPA gene mutation is mainly seen in M2 subtype AML patients.CEBPA common mutation is biallelic mutation.CEBPA double mutation and wild-type patients have different clinical characteristics.The patients with CEBPA double mutations have higher WBC   count,RBC count,and HGB level and lower age and PLT count.

Key words: leukemia,acute myeloid, CCAAT-enhancer binding protein-alpha, gene mutation, sequence analysis