title: Prognostic Impact of Nucleophosmin 1 (NPM1) Gene Mutations in Egyptian Acute Myeloid Leukemia Patients.
abstract: OBJECTIVE
  Somatic mutations of the nucleophosmin gene (NPM1), which alter the subcellular localization of the product, are the most frequent mutations in patients with acute myeloid leukemia. The aim of the study was to assess the prevalence and prognostic impact of NPM1 gene mutations in adult AML patients.
  
  
  METHODS
  Polymerase chain reaction and single-strand conformation polymorphism (PCR-SSCP) were used to screen 55 AML patients for mutations of NPM1 gene.
  
  
  RESULTS
  NPM1 mutations were found in 12 (21.8%) of 55 patients, significantly associated with higher total leukocytie count, marrow blast percentage (p=0.03 and p=0.02, respectively), and M5 subtype (p<0.001). Patients with NPM1 mutations had significantly higher complete remission rates (p=0.003) and a trend to lower rates of mortality, relapse and refractory disease (p=0.28, p=0.45 and p=0.08, respectively). Survival analysis showed significantly longer disease-free survival (mean 18.635±1.229 versus 11.041±1.250 months, p=0.044) and overall survival (mean 19.810±1.624 versus 12.063±1.244 months, p=0.041) in patients with NPM1 mutations compared with those without. Multivariate analyses confirmed NPM1 mutation as a significant independent predictor for disease-free survival (HR=0.066, p=0.001) and overall survival (HR=0.125, p=0.002).
  
  
  CONCLUSIONS
  NPM1 mutation is a prognostic factor for a favorable outcome in Egyptian population. This finding is of major clinical importance since it strongly suggests that NPM1 mutations may allow one to divide the heterogeneous patient group of AML into prognostically different subgroups.
  
  
  BACKGROUND
  None declared.
authors.affiliation: Banha University Faculty of Medicine, Department of Clinical Pathology, Benha, Egypt.
authors.forename: Magda
authors.initials: M
authors.lastname: Zidan
authors.affiliation: Banha University Faculty of Medicine, Department of Clinical Pathology, Benha, Egypt.
authors.forename: Howyda
authors.initials: H
authors.lastname: Shaaban
authors.affiliation: Mansoura University Faculty of Medicine, Department of Clinical Pathology, Mansoura, Egypt.
authors.forename: Doaa
authors.initials: D
authors.lastname: El Ghannam
keywords: Myeloid leukemia; NPM1 mutation