Recent advances in the understanding of mastocytosis: the role of KIT mutations

Br J Haematol. 2007 Jul;138(1):12-30. doi: 10.1111/j.1365-2141.2007.06619.x.


Mastocytosis is a heterogeneous disorder characterised by the expansion and accumulation of mast cells in different organs and tissues. Mast cell physiology is closely dependent on activation of the stem cell factor/Kit signalling pathways and accumulating evidences confirm the physiopathological key role of activating KIT mutations (typically D816V) in mastocytosis and their relationship with the clinical manifestations of the disease. This paper reviews the most recent advances in the understanding of the molecular mechanisms associated with KIT mutations in mastocytosis, including recent data about the use of new therapies targeting the Kit molecule and its associated downstream signalling pathways.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Benzamides
  • Cell Proliferation
  • Cell Survival
  • Gene Expression Regulation, Neoplastic*
  • Imatinib Mesylate
  • Mast Cells / pathology
  • Mastocytosis / genetics*
  • Mastocytosis / metabolism
  • Mastocytosis / pathology
  • Mutation*
  • Piperazines / therapeutic use
  • Protein Kinase Inhibitors / therapeutic use
  • Proto-Oncogene Proteins c-kit / genetics*
  • Proto-Oncogene Proteins c-kit / metabolism
  • Pyrimidines / therapeutic use
  • Signal Transduction / genetics


  • Benzamides
  • Piperazines
  • Protein Kinase Inhibitors
  • Pyrimidines
  • Imatinib Mesylate
  • Proto-Oncogene Proteins c-kit