ABSTRACT
Objective To investigate the clinical characteristics and efficacy of acute myeloid leukemia (AML) with NPM1 and FLT3 mutations.Methods NPM1 and FLT3 mutations were detected in 67 patients with newly diagnosed AML by PCR-capillary electrophoresis.The relationship was analyzed between the mutations and efficacy.Results The incidence of NPM1 mutation was 10.4％ (7/67) in total AML patients and 26.1％ (6/23) in normal karyotypes AML patients.The incidence of FLT3-ITD mutation was 10.4％ (7/67) in total AML patients and 17.4％ (4/23) in normal karyotypes AML patients.The characteristics of 60 NPM1 wild type patients vs that of 7 NPMl mutation patients was as follow,platelet count (BPC) (54× 109/L vs.27.5 × 109/L,P ＜ 0.01),proportion of AML-M5 (57.1％ vs.27.3％,P ＜ 0.01),incidence of CD34+ (28.6％ vs.63.3％,P＜0.01),normal karyotypes (85.7％ vs.28.3％,P＜0.01),cases with particular fusion gene (0 vs.48.3％,P ＜ 0.01),incidence of FLt3-1TD-mutations positive (28.6％ vs.8.3％,P ＜ 0.01),and the differences were significant (P＜0.01).No statistic difference was found in white blood cell(WBC) counts,percentage of blasts in bone marrow,sex,median age and complete remission rate between the two groups (P ＞0.05).The WBC counts (26.9 × 109/L vs.8.1 × 109/L,P =0.013),percentage of blastsin in bone marrow (90％ vs.76％,P=0.014) in the FLT3-ITD mutationg positive patients were clearly higher than those in the FLT3-ITD negative patients.If not associated with FLT3-ITD mutations,mutant NPM1 appears to identify patients with improved response toward treatment.Conclusion It is necessary to detect NPM1 mutation and FLT3-ITD mutation in newly diagnosed AML patients,especially in patients with normal karyotype,which might help to molecular classification and treatment.