A new c-kit mutation in a case of aggressive mast cell disease.
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.
Pignon
J M
JM
Service d'Hématologie Biologique, Hôpital Henri Mondor, Créteil, France.
Giraudier
S
S
Duquesnoy
P
P
Jouault
H
H
Imbert
M
M
Vainchenker
W
W
Vernant
J P
JP
Tulliez
M
M
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*
C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D019009:Proto-Oncogene Proteins c-kit