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A new c-kit mutation in a case of aggressive mast cell disease.

Authors: Pignon, JM  Giraudier, S  Duquesnoy, P  Jouault, H  Imbert, M  Vainchenker, W  Vernant, JP  Tulliez, M 
Citation: Pignon JM, etal., Br J Haematol. 1997 Feb;96(2):374-6.
Pubmed: (View Article at PubMed) PMID:9029028

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.


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CRRD Object Information
CRRD ID: 1600046
Created: 2007-02-26
Species: All species
Last Modified: 2007-02-26
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.