The biology and clinical impact of genetic lesions in myeloid malignancies

Blood. 2013 Nov 28;122(23):3741-8. doi: 10.1182/blood-2013-06-460295. Epub 2013 Aug 16.


A longstanding endeavor to define the genetic lesions that drive myeloid malignances has stimulated a period of remarkable discovery. Enabled by technological advances that have sharply decreased the cost of DNA sequencing, the full compendium of common, recurrent somatic mutations in the coding genome of myeloid malignancies is nearly complete. As the focus of genetic discovery shifts to the noncoding genome, renewed attention is being applied to the clinical and biological implications of recent genomic advances. Although the potential for this newfound knowledge to influence the care of patients has not yet been realized, broad genetic surveys of patient samples are now being used to improve the accuracy of disease diagnosis, define a molecular taxonomy of myeloid malignancies, refine prognostic and predictive models, and identify novel therapeutic strategies. Here, we will review recent advances in the genetics of myeloid malignancies and discuss their potential impact on clinical practice.

Publication types

  • Review

MeSH terms

  • Bone Marrow Neoplasms / diagnosis
  • Bone Marrow Neoplasms / genetics*
  • Bone Marrow Neoplasms / therapy
  • Cell Cycle Proteins / genetics
  • Chromosomal Proteins, Non-Histone / genetics
  • DNA Methylation / genetics
  • Epigenesis, Genetic
  • Genomic Instability
  • Hematologic Neoplasms / diagnosis
  • Hematologic Neoplasms / genetics*
  • Hematologic Neoplasms / therapy
  • Histones / genetics
  • Humans
  • Leukemia, Myeloid / genetics
  • Mutation*
  • Myelodysplastic Syndromes / genetics
  • Myeloproliferative Disorders / genetics
  • Prognosis
  • RNA Splicing / genetics


  • Cell Cycle Proteins
  • Chromosomal Proteins, Non-Histone
  • Histones
  • cohesins