Mutations in myeloid neoplasms

Diagn Mol Pathol. 2008 Dec;17(4):191-9. doi: 10.1097/PDM.0b013e31817d5327.


The introduction of molecular techniques in the study of myeloid neoplasms has resulted in the identification of numerous genetic abnormalities with diagnostic and prognostic significance. The impact of these recent discoveries cannot be understated, as the definitions of several myeloid neoplasms have been changed to include new, molecular criteria. Also, the presence of molecular abnormalities with prognostic significance can impact the therapeutic decisions in many cases. This review is directed to an audience of clinical and laboratory professionals involved in the diagnosis and management of myeloid neoplasms, and it aims to succinctly present the most important genes that have been shown to be important in these disorders. In addition to the information about mutations, their significance, and the methods used in their diagnosis, the normal patterns of expression of these genes, their normal functions, and their structures are also discussed.

Publication types

  • Review

MeSH terms

  • Core Binding Factors / genetics
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Janus Kinase 2 / genetics
  • Leukemia, Myeloid / genetics*
  • Mutation*
  • Myeloid-Lymphoid Leukemia Protein / genetics
  • Nuclear Proteins / genetics
  • Nucleophosmin
  • Proto-Oncogene Proteins c-kit / genetics
  • Receptors, Thrombopoietin / genetics
  • fms-Like Tyrosine Kinase 3 / genetics
  • mRNA Cleavage and Polyadenylation Factors / genetics
  • ras Proteins / genetics


  • Core Binding Factors
  • FIP1L1 protein, human
  • KMT2A protein, human
  • Nuclear Proteins
  • Receptors, Thrombopoietin
  • mRNA Cleavage and Polyadenylation Factors
  • Nucleophosmin
  • MPL protein, human
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase
  • FLT3 protein, human
  • Proto-Oncogene Proteins c-kit
  • fms-Like Tyrosine Kinase 3
  • JAK2 protein, human
  • Janus Kinase 2
  • ras Proteins