Mast cell disease associated with acute myeloid leukemia: detection of a new c-kit mutation Asp816His.
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.
Pullarkat
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Division of Hematology, University of Southern California School of Medicine, Los Angeles, California 90033-0804, USA. vinodpullarkat@pol.net
Pullarkat
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Calverley
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Brynes
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D000208:Acute Disease; D000328:Adult; D006801:Humans; D007951:Leukemia, Myeloid / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D008415:Mastocytosis / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
D019009:Proto-Oncogene Proteins c-kit