[Clinical features and prognostic factors in adult acute myeloid leukemia patients with FLT3-ITD and CEBPA gene co-mutation].

Objective: To investigate the clinical characteristics and prognosis in adult acute myeloid leukemia (AML) patients with FLT3-ITD and CEBPA double-mutated (CEBPAdm) co-mutation. Methods: Clinical data and prognostic factors were retrospectively analyzed in adult AML patients with FLT3-ITD and CEBPAdm co-mutation at The First Affiliated Hospital of Zhengzhou University from January 2016 to September 2018. Results: Among 599 non-acute promyelocytic leukemia (APL) patients, 268 received gene mutation detection, who were divided into 4 groups including 19 FLT3-ITD positive (FLT3-ITD(+)) and CEBPAdm positive (CEBPAdm(+)) cases (group A) , 84 FLT3-ITD(+) and CEBPAdm(-) cases (group B) , 95 FLT3-ITD(-) and CEBPAdm(+) cases (group C) , 70 double negative mutation cases (group D) . Gender, platelet count, FAB classification, induction treatment regimen and fusion gene mutation were comparable among four groups (P>0.05) , while age onset, peripheral white blood cell (WBC) count, hemoglobin, percentage of blasts in peripheral blood, percentage of blasts in bone marrow, complete remission rate (CR(1) rate) after the first induction chemotherapy, the relapse rate, the median progression-free survival (PFS) time, and median overall survival (OS) time were significantly different between groups (P<0.05) . When compared in pairs, gender, age onset, hemoglobin, platelet count, FAB classification in group A were not statistically different compared to group B, C and D (P>0.05) , while patients in group A had higher WBC count, blasts in peripheral blood, minimal residual disease (MRD) in bone marrow. The CR(1) rates of group A, B, C, and D were 50.0%、32.4%、59.8%、39.0% respectively (P=0.003) , and the relapse rates were 55.6%, 50.0%, 21.1%, 40.0% (P<0.001) . As to survival, the median OS in each group was 6.25, 3.0, 15.5, 10.5 months respectively (P<0.001) , and the median PFS was 5.0, 4.0, 10.0, 6.7 months (P=0.032) . Conclusion: Adult AML patients with FLT3-ITD and CEBPAdm co-mutation have a higher leukemia load and low CR(1) rate, which translates into poor prognosis with high relapse rate and short survival time.目的： 研究FLT3-ITD及CEBPA双等位基因突变(CEBPAdm)共突变成人急性髓系白血病(AML)患者的临床特征及预后。 方法： 对2016年1月至2018年9月就诊于郑州大学第一附属医院的初治成人AML患者的临床资料进行回顾性研究，比较分析其临床特点及预后。基因突变检测采用直接测序法。 结果： ①接受基因突变检测的非M(3)且资料完整患者599例，检出FLT3-ITD基因突变阳性（FLT3-ITD(+)）且CEBPAdm阳性（CEBPAdm(+)）患者19例（A组），FLT3-ITD(+)且CEBPAdm(-)患者84例（B组），FLT3-ITD(-)且CEBPAdm(+)患者95例（C组），未检出任何已知基因突变患者70例（D组），共计268例。②A、B、C、D四组间性别、PLT、FAB分型、诱导治疗方案、融合基因突变情况差异均无统计学意义（P值均>0.05）；而发病年龄、初诊时WBC、HGB含量、外周血原始幼稚细胞比例、骨髓原始幼稚细胞比例差异均有统计学意义（P值均<0.05）。组间两两比较，A组较B、C、D组性别、年龄、HGB含量、PLT、FAB分型差异无统计学意义（P值均>0.05）。A组初诊时外周血WBC、外周血原始幼稚细胞比例、首疗程诱导治疗后微小残留病（MRD）水平高于B、C、D各组。③A、B、C、D组首疗程化疗后完全缓解（CR(1)）率分别为50.0%、32.4%、59.8%、39.0%（P=0.003），复发率分别为55.6%、50.0%、21.1%、40.0%（P<0.001），中位总生存时间分别为6.25、3.0、15.5、10.5个月（P<0.001），中位无进展生存时间分别为5.0、4.0、10.0、6.7个月（P=0.032）。 结论： FLT3-ITD及CEBPAdm共突变成人AML患者初诊时外周血WBC高，外周血原始幼稚细胞比例高，首疗程诱导化疗后MRD水平高，CR(1)率低，复发率高，中位总生存时间、中位无进展生存时间短，预后不佳。.