Open AccessSensitive Detection of KIT D816V in Patients with Mastocytosis
Author(s) -
Angela Tan,
David Westerman,
Grant A. McArthur,
Kevin Lynch,
Paul Waring,
Alexander Dobrovic
Publication year - 2006
Publication title -
clinical chemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.705
H-Index - 218
eISSN - 1530-8561
pISSN - 0009-9147
DOI - 10.1373/clinchem.2006.068205
Subject(s) - systemic mastocytosis , exon , microbiology and biotechnology , allele , imatinib mesylate , population , gene , tyrosine kinase , polymerase chain reaction , biology , imatinib , cancer research , immunology , medicine , genetics , receptor , mast cell , environmental health , myeloid leukemia
The 2447 A > T pathogenic variation at codon 816 of exon 17 (D816V) in the KIT gene, occurring in systemic mastocytosis (SM), leads to constitutive activation of tyrosine kinase activity and confers resistance to the tyrosine kinase inhibitor imatinib mesylate. Thus detection of this variation in SM patients is important for determining treatment strategy, but because the population of malignant cells carrying this variation is often small relative to the normal cell population, standard molecular detection methods can be unsuccessful.
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