Article
A new c-kit mutation in a case of aggressive mast cell disease.
British journal of haematology - 1 Feb 1997
Pignon J M, Giraudier S, Duquesnoy P, Jouault H, Imbert M, Vainchenker W, Vernant J P, Tulliez M
Abstract excerpt
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...
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