Kit and c-kit Mutations in Mastocytosis: A Short Overview with Special Reference to Novel Molecular and Diagnostic ConceptsFéger F.a · Ribadeau Dumas A.a · Leriche L.a · Valent P.b · Arock M.a
aCellular and Molecular Hematology Unit, Faculty of Pharmacy, Paris, France; bDepartment of Internal Medicine I, Division of Hematology, University of Vienna, Austria
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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.
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