A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib.

  title={A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib.},
  author={Cem Akin and Gerard Fumo and Akif Selim Yavuz and Peter E. Lipsky and Len Neckers and Dean D. Metcalfe},
  volume={103 8},
Mutational analysis of the c-kit gene in a patient with a previously undescribed variant of mast cell disease revealed a germline mutation, Phe522Cys, within the transmembrane portion of the Kit receptor protein. Transfection experiments revealed that the mutation caused ligand-independent autophosphorylation of Kit, which was inhibited by the tyrosine kinase inhibitor imatinib mesylate. The patient's bone marrow biopsy and aspirate displayed unique pathologic features with the presence of… 

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