急性髓系白血病CEBPA基因突变研究

目的：探讨急性髓系白血病（AML）患者CEBPA基因突变的发生率,分析伴CEBPA突变的正常核型AML（NK-AML）患者的临床特征及预后.方法：80例AML初发患者,以基因组DNA为模板,分两段扩增整个CEBPA基因,扩增产物测序检测CEBPA突变,分析NK-AML中CEBPA突变型组及野生型组患者总生存（0S）、无事件生存（EFS）.结果：检出CEBPA基因突变10例,突变率为12.5％ （10/80）,均为M2型,核型正常;突变主要为N端移码突变和C端框内突变;CEBPA突变型组患者初诊时外周血小板计数明显低于野生型组,差异有统计学意义（P＜0.05）,CEBPA突变型组患者OS、EFS与CEBPA野生型组,差异无统计学意义（P＞0.05）.结论：CEBPA基因突变多见于正常核型AML-M2患者,伴CEBPA突变患者初诊时外周血血小板计数较低,但不影响预后.

Analysis of CEBPA Mutation in Acute Myeloid Leukemia

Objective：To explore the incidence of CEBPA gene mutation in patients with acute myeloid leukemia （AML）,and to study the clinical features and prognosis of normal karyotype AML（NKAML） patients with CEBPA gene mutation.Methods：The entire CEBPA coding region of 80 AML primary patients was amplified using genomic DNA as template and sequenced.The overall survival rates （OS） and event free survival rates （EFS） of NK-AML patients in mutation group and wild type group were analyzed.Results：CEBPA mutations were found in 10 patients,and mutation rate was 12.5 ％ （10/80）.All the 10 patients were M2 and NK-AML.The mutations mainly were N-terminal nonsense mutations and C-terminal in-frame mutation.Compared with wild type patients,the patients with CEBPA mutations had lower platelet counts （P ＜ O.05）.The OS and EFS of AML patients with CEBPA mutation were similar to patients without CEBPA mutation （P ＞ 0.05）.Conclusions：CEBPA mutations are mainly identified in NK-AML patients with M2 subtype.CEBPA mutant cases are associated with lower platelet counts,but not affect prognosis.