title: AML1/RUNX1 gene point mutations in childhood myeloid malignancies.
abstract: BACKGROUND
  Currently, it is widely accepted that one of the crucial players in adult leukemic transformation is the RUNX1 gene. However, there is little data available regarding whether mutations in this gene also contribute to pediatric leukemia, especially in childhood myeloid malignancies. Therefore we made a decision to screen patients with pediatric myeloid neoplasias for the presence of RUNX1 mutations in their samples.
  
  
  METHODS
  Patients (n = 238) with diagnoses of de novo acute myeloid leukemia (AML) (n = 198), de novo myelodisplastic syndrome (MDS) (n = 16), therapy-related AML (n = 9), juvenile myelomonocytic leukemia (JMML) (n = 15) were included in this study. All patients were Belarusians between the ages of 0 and 18 years.
  
  
  RESULTS
  The frequency of RUNX1 point mutations in the total group of patients with de novo AML was 3% and de novo MDS was 15%. Cooperation of point mutations in the RUNX1 and NRAS genes, and the cytogenetic abnormality, -7/7q-, was demonstrated in children with therapy-related AML. RUNX1 point mutations predominate in those de novo AML and MDS patients with a normal karyotype in leukemic cells. Frequency of RUNX1 point mutations was about 4% in a group of children with de novo AML aged 0-14 years diagnosed during the period of 1998-2009.
  
  
  CONCLUSIONS
  During the course of this investigation, valuable data were obtained concerning RUNX1 gene mutation frequencies in different clinical, morphological, and cytogenetic groups of patients with myeloid malignancies, and its cooperation with other molecular aberrations.
authors.affiliation: Belarusian Research Center for Pediatric Oncology and Hematology, Minsk, Belarus. migas@cancer.org.by
authors.forename: Alexandr
authors.initials: A
authors.lastname: Migas
authors.forename: Natallia
authors.initials: N
authors.lastname: Savva
authors.forename: Olga
authors.initials: O
authors.lastname: Mishkova
authors.forename: Olga V
authors.initials: OV
authors.lastname: Aleinikova
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D054429:Leukemia, Myelomonocytic, Juvenile / Q000235:genetics*; D008297:Male; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human