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

DOI PDF 被引用文献8件
  • Cem Akin
    From the Laboratory of Allergic Diseases of the National Institute of Allergy and Infectious Diseases, the Cell and Cancer Biology Branch of the National Cancer Institute, and the the Autoimmunity Branch of the National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH), Bethesda, MD.
  • Gerard Fumo
    From the Laboratory of Allergic Diseases of the National Institute of Allergy and Infectious Diseases, the Cell and Cancer Biology Branch of the National Cancer Institute, and the the Autoimmunity Branch of the National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH), Bethesda, MD.
  • Akif S. Yavuz
    From the Laboratory of Allergic Diseases of the National Institute of Allergy and Infectious Diseases, the Cell and Cancer Biology Branch of the National Cancer Institute, and the the Autoimmunity Branch of the National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH), Bethesda, MD.
  • Peter E. Lipsky
    From the Laboratory of Allergic Diseases of the National Institute of Allergy and Infectious Diseases, the Cell and Cancer Biology Branch of the National Cancer Institute, and the the Autoimmunity Branch of the National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH), Bethesda, MD.
  • Len Neckers
    From the Laboratory of Allergic Diseases of the National Institute of Allergy and Infectious Diseases, the Cell and Cancer Biology Branch of the National Cancer Institute, and the the Autoimmunity Branch of the National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH), Bethesda, MD.
  • Dean D. Metcalfe
    From the Laboratory of Allergic Diseases of the National Institute of Allergy and Infectious Diseases, the Cell and Cancer Biology Branch of the National Cancer Institute, and the the Autoimmunity Branch of the National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH), Bethesda, MD.

抄録

<jats:title>Abstract</jats:title> <jats:p>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 excessive numbers of mature-appearing mast cells and absence of aberrant mast cell surface expression of CD2, CD25, and CD35. Therapy with imatinib mesylate resulted in a dramatic improvement in mast cell burden and clinical symptoms. These results highlight the significance of the transmembrane region of Kit in activation of the molecule and its importance in mast cell development and suggest a role for screening for transmembrane c-kit mutations in patients with mastocytosis in association with the decision to use imatinib mesylate. (Blood. 2004;103:3222-3225)</jats:p>

収録刊行物

  • Blood

    Blood 103 (8), 3222-3225, 2004-04-15

    American Society of Hematology

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