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

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

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1
Cellular and Molecular Hematology Unit, Faculty of Pharmacy, Paris, France.

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.

PMID:
11919418
DOI:
48179
[Indexed for MEDLINE]
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