Genetics of myeloid malignancies: Pathogenetic and clinical implications Review uri icon


MeSH Major

  • Genetic Predisposition to Disease
  • Genetic Therapy
  • Hematologic Neoplasms


  • Myeloid malignancies are clonal disorders that are characterized by acquired somatic mutation in hematopoietic progenitors. Recent advances in our understanding of the genetic basis of myeloid malignancies have provided important insights into the pathogenesis of acute myeloid leukemia (AML) and myeloproliferative diseases (MPD) and have led to the development of novel therapeutic approaches. In this review, we describe our current state of understanding of the genetic basis of AML and MPD, with a specific focus on pathogenetic and therapeutic significance. Specific examples discussed include RAS mutations, KIT mutations, FLT3 mutations, and core binding factor rearrangements in AML, and JAK2 mutations in polycythemia vera, essential thrombocytosis, and chronic idiopathic myelofibrosis.

publication date

  • December 2005



  • Review



  • eng

Digital Object Identifier (DOI)

  • 10.1200/JCO.2005.05.010

PubMed ID

  • 16155011

Additional Document Info

start page

  • 6285

end page

  • 95


  • 23


  • 26