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Mast cell disease associated with acute myeloid leukemia: Detection of a new c‐kit mutation Asp816His
Author(s) -
Pullarkat Vinod A.,
Pullarkat Sheeja T.,
Calverley David C.,
Brynes Russell K.
Publication year - 2000
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/1096-8652(200012)65:4<307::aid-ajh10>3.0.co;2-f
Subject(s) - myeloid leukemia , autophosphorylation , cancer research , stem cell factor , mast cell , proto oncogene proteins c kit , leukemia , biology , tyrosine kinase , mutation , signal transduction , fms like tyrosine kinase 3 , receptor tyrosine kinase , pathogenesis , myeloid , systemic mastocytosis , immunology , stem cell , phosphorylation , haematopoiesis , microbiology and biotechnology , genetics , gene , protein kinase a
Mast cell disease (MCD), a proliferation of mast cells (MC), is occasionally associated with hematologic malignancies. Neoplastic MC have activating c‐kit mutations. c‐kit is a receptor tyrosine kinase required for the development, proliferation, and survival of MC. Interaction of c‐kit with its ligand stem cell factor induces dimerization, receptor phosphorylation, and signal transduction. The most common c‐kit mutation detected in neoplastic MCD is Asp816Val, which results in ligand‐independent autophosphorylation of the receptor leading to MC proliferation. We describe the rare occurrence of MCD associated with acute myeloid leukemia, report a novel c‐kit mutation Asp816 His, and discuss the pathogenesis of MCD associated with hematologic malignancies. Am. J. Hematol. 65:307–309, 2000. © 2000 Wiley‐Liss, Inc.