Journal
LEUKEMIA RESEARCH
Volume 25, Issue 7, Pages 571-576Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/S0145-2126(01)00028-5
Keywords
c-KIT; mastocytosis; GIST; AML; gastrointestinal stromal tumors; acute myelogenous leukemia; sinonasal T-cell lymphoma; myelodysplasia
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Mutations causing constitutive activation of KIT have been shown to be causative in some forms of mastocytosis, and several types of mutations have been associated with myeloproliferative disorders (MPDs), acute myelogenous leukemia (AML), sinonasal lymphomas, and gastrointestinal stromal tumors (GIST). We divide these activating mutation into two types - 'regulatory type' mutations, which affect regulation of the kinase molecule, and 'enzymatic pocket type' mutations, which alter the amino acid sequence directly forming the enzymatic site. KIT inhibitors have been suggested as therapeutic drugs for these conditions, but different types of activating mutations respond differentially to KIT inhibitors, so classification of individuals on the basis of specific mutations is necessary to guide therapy. (C) 2001 Elsevier Science Ltd. All rights reserved.
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