title: Kit and c-kit mutations in mastocytosis: a short overview with special reference to novel molecular and diagnostic concepts.
abstract: 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.
authors.affiliation: Cellular and Molecular Hematology Unit, Faculty of Pharmacy, Paris, France.
authors.forename: Frédéric
authors.initials: F
authors.lastname: Féger
authors.forename: Antoine
authors.initials: A
authors.lastname: Ribadeau Dumas
authors.forename: Laurence
authors.initials: L
authors.lastname: Leriche
authors.forename: Peter
authors.initials: P
authors.lastname: Valent
authors.forename: Michel
authors.initials: M
authors.lastname: Arock
mesh_terms: D006801:Humans; D008415:Mastocytosis / Q000145:classification / Q000235:genetics*; D017354:Point Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: D019009:Proto-Oncogene Proteins c-kit