急性髓系白血病患者CEBPA和C-KIT基因突变表达及在判断预后中的意义

Expression of CEBPA and C-KIT Gene Mutations in Patients with Acute Myeloid Leukemia and Its Significance in Prognosis

目的探讨急性髓系白血病(AML)患者髓系转录因子CCAAT增强子结合蛋白-A(CEBPA)和C-KIT基因突变表达及在判断预后中的意义。方法选取2012年5月至2015年5月我院收治的158例AML患者为研究对象,检测CEBPA和C-KIT基因,给予标准方案缓解和缓解后巩固强化治疗。随访8~36个月,观察并统计预后情况。结果 (1)通过基因突变检测,158例AML患者中CEBPA阳性患者27例,占检测例数的17.09%;C-KIT阳性患者16例,占检测例数的10.13%;而有6例患者呈CEBPA和C-KIT检测双阳性;(2)单独C-KIT突变阳性组1疗程完全缓解率、总完全缓解率和总体生存率均低于C-KIT突变阴性组(P<0.05);单独CEBPA突变阳性组1疗程完全缓解率、总完全缓解率和总体生存率均高于CEBPA突变阴性组(P<0.05);(3)单独C-KIT突变阳性组复发率明显高于C-KIT突变阴性组(P<0.05),单独C-KIT突变阳性组无复发生存时间略短于C-KIT突变阴性组,但组间比较差异无显著性(P>0.05);单独CEBPA突变阳性组复发率明显低于CEBPA突变阴性组(P<0.05),单独CEBPA突变阳性组无复发生存时间略长于CEBPA突变阴性组,但组间比较差异无显著性(P>0.05)。结论C-KIT和CEBPA基因突变均在AML患者中有特殊的分布,C-KIT突变阳性的AML患者预后不良,表明CEBPA突变阳性的AML患者预后良好,均对AML患者诊断、治疗的指导和预后的评估具有重要的意义。

Objective This study aimed to investigate the expression of CCAAT-enhancer binding protein-alpha（CEBPA）and C-KIT gene mutations in acute myeloid leukemia（AML）patients and to determine its significance of their prognosis.Methods A total of 158 cases of AML patients in our hospital from January 2012 to May 2015 were treated as the research subjects,with CEBPA and C-KIT gene detected,by standard solutions of relief and post-relief to consolidate and enhance treatment.Follow-up 8 to 36 months,prognosis was observed and recorded.Results（1）Among gene mutation detection,there were 27 positive cases of CEBPA in 158 patients with AML,accounting for17.09%.There were 16 cases of C-KIT positive patients,accounting for 10.13%.However,6 patients had positive CEBPA and C-KIT tests.（2）The complete remission rate of 1 course of treatment,total complete remission rate and overall survival rate of the C-KIT mutation-positive group were lower than those of the C-KIT mutation-negative group（P〈0.05）.The complete remission rate of 1 course of treatment,total complete remission rate,and overall survival rate of CEBPA mutation-positive group were higher than those of CEBPA mutation-negative group（P〈0.05）.（3）The recurrence rate of C-KIT mutation-positive group was significantly higher than that of the C-KIT mutation-negative group（P〈0.05）,the recurrence-free survival time of the C-KIT mutation-positive group was slightly shorter than that of the C-KIT mutation-negative group,but there was no significant difference between the groups（P〉0.05）.The recurrence rate of the CEBPA mutation-positive group was significantly lower than that of the CEBPA mutation-negative group（P〈0.05）.The relapse-free survival time of the CEBPA mutation-positivegroup was slightly longer than that of the CEBPA mutation-negative group,but there was no significant difference between the groups（P〉0.05）.Conclusions Both C-KIT and CEBPA gene mutations are uniquely distributed in patients with AML.The prognosis of AML patients with C-KIT mutation is positive,indicating that the prognosis of AML patients with positive CEBPA mutation is good.It is of great significance for diagnosis,treatment guidance and prognosis evaluation of AML patients.