title: c-kit mutation in a population of patients with mastocytosis.
abstract: The c-kit Asp816Val activating mutation is found in all patients with mastocytosis with an associated hematologic disorder, and at least in a subset of patients with indolent mastocytosis. The case of an 11-month-old child is presented who was categorized as having indolent mastocytosis, and where the Asp816Val mutation was identified in lesional skin, but not in bone marrow or in peripheral blood mononuclear cell populations. The significance of these findings is discussed.
authors.affiliation: Department of Otolaryngology, Chiba University School of Medicine, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Nagata
authors.forename: T
authors.initials: T
authors.lastname: Okada
authors.forename: A S
authors.initials: AS
authors.lastname: Worobec
authors.forename: T
authors.initials: T
authors.lastname: Semere
authors.forename: D D
authors.initials: DD
authors.lastname: Metcalfe
mesh_terms: D006801:Humans; D007223:Infant; D008297:Male; D008415:Mastocytosis / Q000235:genetics*; D009154:Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: D019009:Proto-Oncogene Proteins c-kit