Kit and c-kit mutations in mastocytosis: a short overview with special reference to novel molecular and diagnostic concepts

Int Arch Allergy Immunol. 2002 Feb;127(2):110-4. doi: 10.1159/000048179.


Mastocytosis is a heterogeneous group of hematopoietic disorders characterized by abnormal growth and accumulation of mast cells (MC) in one or more organs. Clinical symptoms occur as a result of the release of chemical mediators and/or of pathologic infiltration of MC in various tissues. Although the initial events leading to mastocytosis have not yet been unraveled, acquired alterations in the c-kit gene coding for the receptor of stem cell factor (SCF), a major cytokine involved in MC growth, have been described in a significant number of patients. Of particular interest are point mutations resulting in a constitutively activated SCF receptor. Such mutations are probably involved in the abnormal (SCF-independent) proliferation of MC in these patients. New therapeutic strategies may be envisaged to inhibit the deregulated kinase activity of these mutant forms of c-kit.

Publication types

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

MeSH terms

  • Humans
  • Mastocytosis / classification
  • Mastocytosis / genetics*
  • Point Mutation*
  • Proto-Oncogene Proteins c-kit / genetics*


  • Proto-Oncogene Proteins c-kit