title: Examination of the FLT3 and NPM1 mutational status in patients with acute myeloid leukemia from southeastern Poland.
abstract: BACKGROUND
  Acute myeloid leukemia (AML) is a genetically heterogeneous disease at both the cytogenetic and molecular levels. In AML cells many chromosomal aberrations are observed, some of them being characteristic of a particular subtype of patients, and others being less significant. Besides chromosomal abnormalities, the leukemic cells can have a variety of mutations involving individual genes. The aim of this work was to investigate the frequencies of molecular alterations with the focus on FLT3-ITD and NPM1 mutations in AML patients of different age groups living in a southeastern region of Poland.
  
  
  METHODS
  The study group comprised 50 consecutive AML patients. We analyzed bone marrow samples by conventional cytogenetics. Cytogenetic evaluation in selected cases was complemented by the FISH technique. The internal tandem mutation in the FLT3 gene was identified using polymerase chain reaction (PCR), and the NPM1 mutation was assessed by direct nucleotide sequencing.
  
  
  RESULTS
  The studies using classical cytogenetics showed chromosomal aberrations in 32 (64%) patients. In 18 cases no changes in the karyotype were found by conventional karyotyping. FLT3-ITD mutation was detected in 4 (8%) patients and mutation of NPM1 in 3 patients with AML (6%).
  
  
  CONCLUSIONS
  The incidence of both mutations in our study group was lower than described elsewhere. We have confirmed that FLT3-ITD occurred more commonly in older patients and it was associated with shorter overall survival. By contrast, mutation of exon 12 of the NPM1 gene seems to be a good prognostic factor in AML patients with normal karyotype.
authors.affiliation: Department of Cancer Genetics, Medical University of Lublin, Lublin, Poland.
authors.forename: Dorota
authors.initials: D
authors.lastname: Koczkodaj
authors.affiliation: Department of Cancer Genetics, Medical University of Lublin, Lublin, Poland.
authors.forename: Szymon
authors.initials: S
authors.lastname: Zmorzyński
authors.affiliation: Department of Cancer Genetics, Medical University of Lublin, Lublin, Poland.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Michalak-Wojnowska
authors.affiliation: Department of Hematooncology and Bone Marrow Transplantation, Medical University of Lublin, Lublin, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Wąsik-Szczepanek
authors.affiliation: Department of Cancer Genetics, Medical University of Lublin, Lublin, Poland.
authors.forename: Agata A
authors.initials: AA
authors.lastname: Filip
keywords: FLT3-ITD; NPM1; acute myeloid leukemia; karyotype