NPM1 mutation in acute myeloid leukemia with normal karyotype: a clinical analysis

Abstract

Objective To investigate the frequency of NPM1 mutation and its clinical significance in patients with cytogenetically normal acute myeloid leukemia(CN-AML). Methods The data of 190 patients with CN-AML were collected from Department of Hematology, Tongji Hospital between January 2008 and June 2015, and the discrepancies in clinical features and efficacy between CN-AML patients with NPM1 mutation and those without NPM1 mutation were also analyzed. Results Among the 190 CN-AML patients, NPM1 mutation was found in 44 patients (23.16%). The proportion of bone marrow blast cells and the count of peripheral white blood cells in patients with NPM1 mutation were higher than those in patients without NPM1 mutation (75.82% vs. 63.87%, P<0.05; 75.7×109/L vs. 60.0×109/L, P<0.05). The rate of response (complete remission + partial remission) in patients with NPM1 mutation was also higher than that in patients without NPM1 mutation [70.09% (22/31) vs. 56.91% (45/79), P<0.05)]. Conclusion NPM1 mutation is associated with higher tumor burden and higher remission rate in CN-AML patients. Key words: Leukemia, myeloid, acute; NPM1 gene; Mutation