The Clinical Characteristics And Prognosis Of Cytogenetically Normal AML With Single Mutations Of CEBPA

Objective:CEBPA mutation is a common mutation in normal karyotype AML.CEBPAdm AML has been recognized as a separate entity,but there is still controversy to the prognosis of CEBPAsm patients.This study investigated the genetic mutation,clinical and prognostic characteristics of newly diagnosed patients with CEBPAsm in cytogenetically normal acute myeloid leukemia(AML).Methods1.Detection the 34 gene mutations in AML patients by NGS technology2.The analysis of clinical characteristics and prognosis of newly diagnosed AML patients with CEBPA gene mutationWe collected information by searching the medical records and phoning to them,respectively including: age,gender,white blood cells(WBC),hemoglobin(Hb),platelet count(PLT),the proportion of blast cells,the expression of WT1,immunophenotyping,karyotype,induction chemotherapy regimens,extramedullary leukemia,etc.Results:1.CEBPAsm patients had lower hemoglobin values than CEBPAdm(P=0.049).However,this hemoglobin difference was not seen in the CEBPAwt.CEBPAsm patients and CEBPAdm patients had lower platelet counts and higher expression of CD7 than CEBPAwt cases(CEBPAsm vs.CEBPAwt P<0.001;CEBPAdm vs.CEBPAwt P<0.001).2.The mutation rate of CEBPAsm was lower than that of CEBPAdm(P<0.05).Frameshift mutation was the major mutation type in N-terminal and in-frame mutation was the main mutation type in C-terminal.There was no statistical difference between the CEBPAsm cases and the CEBPAdm cases in the mutation types and the distribution of mutation regions(P>0.05).3.The CEBPAsm cases were accompanied by 2 other mutation on average,the CEBPAdm group was co-occurred by 1 mutation on average.Compared with CEBPAdm,cases with CEBPAsm were more likely associated with multiple other gene mutations(P=0.023).DNMT3 A and PHF6 mutations exclusively appeared in CEBPAsm cases but not in CEBPAdm.4.Patients with CEBPAdm had a higher CR rate and ORR rate than those CEBPAsm and CEBPAwt(P<0.050),but there was no statistical significance between CEBPAsm group and CEBPAwt group.Patients with CEBPAdm had a superior OS compared with patients with CEBPAwt.CEBPAsm patients had a similar OS with CEBPAwt patients(P=0.281).5.These patients with relatively lower mutation load(VAF<30%)had lower OS than the patients with somewhat higher mutation load(VAF≥30%).Compared to those CEBPAsm/FLT3-ITDmut,patients with CEBPAsm /FLT3-ITDwt had superior OS(P=0.0198).6.A high proportion of blast cells in bone marrow and accompanied by TET2 mutation are independent risk factors for poor prognosis in CEBPadm AML patients Conclusion:1.Patients with CEBPAsm AML have unique clinical characteristics and have lower hemoglobin level compared to patients with CEBPAdm AML.However,compared with CEBPAwt AML patients,CEBPAsm group had lower platelet count and higher CD7 expression.2.The mutation rate of CEBPAsm was lower than CEBPAdm,cases with CEBPAsm were more likely associated with multiple other gene mutations.3.The CR of CEBPAsm group was significantly lower than that of CEBPAdm group.CEBPAsm patients had a similar OS with CEBPAwt patients.4.Patients with CEBPAsm /FLT3-ITDmut had lower OS.Our data first highlighted the impact of CEBPAsm VAF on OS,and the results showed the lower the VAF was,the shorter the OS was.The VAF of CEBPAsm can provide specific significance for the prognosis of patients.5.A high proportion of blast cells in bone marrow and accompanied by TET2 mutation are independent risk factors for poor prognosis in CEBPadm AML patients...