title: A new c-kit mutation in a case of aggressive mast cell disease.
abstract: Systemic mast cell disease (SMCD) is a disorder characterized by a mast cell proliferation in various tissues. Mast cells express the c-kit proto-oncogene. A few cases of c-kit mutations have been described in SMCD. We report an aggressive SMCD in a patient who presented with a bone marrow infiltration by abnormal mast cells. Molecular studies of mast cell DNA and RNA revealed a new c-kit heterozygous mutation (Asp820Gly). This mutation leads to a drastic amino-acid change and is located close to the highly oncogenic Asp816Val. These findings suggest that the Asp820Gly has a potential role in c-kit activation.
authors.affiliation: Service d'Hématologie Biologique, Hôpital Henri Mondor, Créteil, France.
authors.forename: J M
authors.initials: JM
authors.lastname: Pignon
authors.forename: S
authors.initials: S
authors.lastname: Giraudier
authors.forename: P
authors.initials: P
authors.lastname: Duquesnoy
authors.forename: H
authors.initials: H
authors.lastname: Jouault
authors.forename: M
authors.initials: M
authors.lastname: Imbert
authors.forename: W
authors.initials: W
authors.lastname: Vainchenker
authors.forename: J P
authors.initials: JP
authors.lastname: Vernant
authors.forename: M
authors.initials: M
authors.lastname: Tulliez
mesh_terms: D000328:Adult; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D008415:Mastocytosis / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D000090063:Proto-Oncogene Mas; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D019009:Proto-Oncogene Proteins c-kit