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