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

Akin, Cem, Fumo, Gerard, Yavuz, Akif S., Lipsky, Peter E., Neckers, Len, Metcalfe, Dean D.·2004·Blood
DOI 10.1182/blood-2003-11-3816
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Abstract

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)

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Research works printed but not linked: 18

  1. Metcalfe DD, Akin C. Mastocytosis: molecular mechanisms and clinical disease heterogeneity. Leuk Res.2001;25: 577-582. · DOI
  2. Ma Y, Zeng S, Metcalfe DD, et al. The c-KIT mutation causing human mastocytosis is resistant to STI571 and other KIT kinase inhibitors; kinases with enzymatic site mutations show different inhibitor sensitivity profiles than wild-type kinases and those with regulatory-type mutations. Blood.2002;99: 1741-1744. · DOI
  3. Akin C, Brockow K, D'Ambrosio C, et al. Effects of tyrosine kinase inhibitor STI571 on human mast cells bearing wild-type or mutated c-kit. Exp Hematol.2003;31: 686-692. · DOI
  4. Zermati Y, De Sepulveda P, Feger F, et al. Effect of tyrosine kinase inhibitor STI571 on the kinase activity of wild-type and various mutated c-kit receptors found in mast cell neoplasms. Oncogene.2003;22: 660-664. · DOI
  5. Akin C, Kirshenbaum AS, Semere T, et al. Analysis of the surface expression of c-kit and occurrence of the c-kit Asp816Val activating mutation in T cells, B cells, and myelomonocytic cells in patients with mastocytosis. Exp Hematol.2000;28: 140-147. · DOI
  6. Yavuz AS, Lipsky PE, Yavuz S, Metcalfe DD, Akin C. Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene. Blood.2002;100: 661-665. · DOI
  7. Escribano L, Orfao A, Diaz-Agustin B, et al. Indolent systemic mast cell disease in adults: immunophenotypic characterization of bone marrow mast cells and its diagnostic implications. Blood.1998;91: 2731-2736. · DOI
  8. Yarden Y, Kuang WJ, Yang-Feng T, et al. Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand. EMBO J.1987;6: 3341-3351. · DOI
  9. Buchdunger E, Cioffi CL, Law N, et al. Abl protein-tyrosine kinase inhibitor STI571 inhibits in vitro signal transduction mediated by c-kit and platelet-derived growth factor receptors. J Pharmacol Exp Ther.2000;295: 139-145.
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  16. Longley BJ, Reguera MJ, Ma Y. Classes of c-KIT activating mutations: proposed mechanisms of action and implications for disease classification and therapy. Leuk Res.2001;25: 571-576. · DOI
  17. Valent P, Horny HP, Li CY, et al. Mastocytosis. In: Jaffe ES, Harris NL, Stein H, Vardiman JW, eds. World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of the Haematopoietic and Lymphoid Tissues. Lyon, France: IARC Press; 2001: 291-302.
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Metadata

Authors
Akin, C., Fumo, G., Yavuz, A. S., Lipsky, P. E., Neckers, L., & Metcalfe, D. D.
Affiliations
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.
Venue
Blood
Publisher
American Society of Hematology
Published
2004-04-15
Volume
103
Issue
8
Pages
3222-3225
ISSN
  • 0006-4971
  • 1528-0020
DOI
10.1182/blood-2003-11-3816
Cited by
313
References
0
Language
en

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CoChat. (2026). Citation check: A novel form of mastocytosis associated with a transmembrane c‐kit mutation and response to imatinib. https://app.cochat.ai/papers/10.1182/blood-2003-11-3816
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Akin, C., Fumo, G., Yavuz, A. S., Lipsky, P. E., Neckers, L., & Metcalfe, D. D. (2004). A novel form of mastocytosis associated with a transmembrane c‐kit mutation and response to imatinib. Blood. https://doi.org/10.1182/blood-2003-11-3816