Leukemia Research
Volume 30, Issue 4 , Pages 373-378 , April 2006

A novel K509I mutation of KIT identified in familial mastocytosis—in vitro and in vivo responsiveness to imatinib therapy

  • Ling Yan Zhang

      Affiliations

    • Wessex Regional Genetics Laboratory, Salisbury, UK
    • ,
  • Matthew L. Smith

      Affiliations

    • Cancer Research UK Medical Oncology Unit, St. Bartholomew's Hospital, West Smithfield, London EC1A 7BE, UK
    • ,
  • Beate Schultheis

      Affiliations

    • Department of Haematology, Imperial College and Hammersmith Hospital, London, UK
    • ,
  • Jude Fitzgibbon

      Affiliations

    • Cancer Research UK Medical Oncology Unit, St. Bartholomew's Hospital, West Smithfield, London EC1A 7BE, UK
    • ,
  • T. Andrew Lister

      Affiliations

    • Cancer Research UK Medical Oncology Unit, St. Bartholomew's Hospital, West Smithfield, London EC1A 7BE, UK
    • ,
  • Junia V. Melo

      Affiliations

    • Department of Haematology, Imperial College and Hammersmith Hospital, London, UK
    • ,
  • Nicholas C.P. Cross

      Affiliations

    • Wessex Regional Genetics Laboratory, Salisbury, UK
    • ,
  • Jamie D. Cavenagh

      Affiliations

    • Department of Haematology, St. Bartholomew's Hospital, West Smithfield, London EC1A 7BE, UK
    • Corresponding Author InformationCorresponding author. Tel.: +44 207 601 8202; fax: +44 207 601 8201.

Received 12 April 2005

References 

  1. Scheijen B, Griffin JD. Tyrosine kinase oncogenes in normal hematopoiesis and hematological disease. Oncogene. 2002;21:3314–3333
  2. Tsujimura T, Morimoto M, Hashimoto K, Moriyama Y, Kitayama H, Matsuzawa Y, et al. Constitutive activation of c-kit in FMA3 murine mastocytoma cells caused by deletion of seven amino acids at the juxtamembrane domain. Blood. 1996;87:273–283
  3. Furitsu T, Tsujimura T, Tono T, Ikeda H, Kitayama H, Koshimizu U, et al. Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product. J Clin Invest. 1993;92:1736–1744
  4. Buttner C, Henz BM, Welker P, Sepp NT, Grabbe J. Identification of activating c-kit mutations in adult-, but not in childhood-onset indolent mastocytosis: a possible explanation for divergent clinical behavior. J Invest Dermatol. 1998;111:1227–1231
  5. Ning ZQ, Li J, Arceci RJ. Signal transducer and activator of transcription 3 activation is required for Asp(816) mutant c-Kit-mediated cytokine-independent survival and proliferation in human leukemia cells. Blood. 2001;97:3559–3567
  6. Zermati Y, De Sepulveda P, Feger F, Letard S, Kersual J, Casteran N, 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
  7. Pardanani A, Elliott M, Reeder T, Li CY, Baxter EJ, Cross NC, et al. Imatinib for systemic mast-cell disease. Lancet. 2003;362:535–536
  8. Pardanani A, Brockman SR, Paternoster SF, Flynn HC, Ketterling RP, Lasho TL, et al. FIP1L1-PDGFRA fusion: prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosinophilia. Blood. 2004;104:3038–3045
  9. Akin C, Fumo G, Yavuz AS, Lipsky PE, Neckers L, Metcalfe DD. A novel form of mastocytosis associated with a transmembrane c-Kit mutation and response to imatinib. Blood. 2003;103:3222–3225
  10. Valent P, Horny HP, Escribano L, Longley BJ, Li CY, Schwartz LB, et al. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res. 2001;25:603–625
  11. Cross NC, Melo JV, Feng L, Goldman JM. An optimized multiplex polymerase chain reaction (PCR) for detection of BCR-ABL fusion mRNAs in haematological disorders. Leukemia. 1994;8:186–189
  12. Ye S, Dhillon S, Ke X, Collins AR, Day IN. An efficient procedure for genotyping single nucleotide polymorphisms. Nucleic Acids Res. 2001;29:E88–E98
  13. Caruana G, Cambareri AC, Ashman LK. Isoforms of c-KIT differ in activation of signalling pathways and transformation of NIH3T3 fibroblasts. Oncogene. 1999;18:5573–5581
  14. Voytyuk O, Lennartsson J, Mogi A, Caruana G, Courtneidge S, Ashman LK, et al. Src family kinases are involved in the differential signaling from two splice forms of c-Kit. J Biol Chem. 2003;278:9159–9166
  15. Clark DP, Buescher L, Havey A. Familial urticaria pigmentosa. Arch Intern Med. 1990;150:1742–1744
  16. Fowler JF, Parsley WM, Cotter PG. Familial urticaria pigmentosa. Arch Dermatol. 1986;122:80–81
  17. Hartmann K, Henz BM. Mastocytosis: recent advances in defining the disease. Br J Dermatol. 2001;144:682–695
  18. Longley BJ, Metcalfe DD, Tharp M, Wang X, Tyrrell L, Lu SZ, et al. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci USA. 1999;96:1609–1614
  19. Rosbotham JL, Malik NM, Syrris P, Jeffery S, Bedlow A, Gharraie S, et al. Lack of c-kit mutation in familial urticaria pigmentosa. Br J Dermatol. 1999;140:849–852
  20. Sato-Matsumura KC, Matsumura T, Koizumi H, Sato H, Nagashima K, Ohkawara A. Analysis of c-kit exon 11 and exon 17 of urticaria pigmentosa that occurred in monozygotic twin sisters. Br J Dermatol. 1999;140:1130–1132
  21. Tang X, Boxer M, Drummond A, Ogston P, Hodgins M, Burden AD. A germline mutation in KIT in familial diffuse cutaneous mastocytosis. J Med Genet. 2004;41:e88
  22. Nishida T, Hirota S, Taniguchi M, Hashimoto K, Isozaki K, Nakamura H, et al. Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. Nat Genet. 1998;19:323–324
  23. Beghini A, Tibiletti MG, Roversi G, Chiaravalli AM, Serio G, Capella C, et al. Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. Cancer. 2001;92:657–662
  24. Carballo M, Roig I, Aguilar F, Pol MA, Gamundi MJ, Hernan I, et al. Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation. Am J Med Genet A. 2005;132:361–364
  25. Marshall JB, Diaz-Arias AA, Bochna GS, Vogele KA. Achalasia due to diffuse esophageal leiomyomatosis and inherited as an autosomal dominant disorder. Report of a family study. Gastroenterology. 1990;98:1358–1365

PII: S0145-2126(05)00321-8

doi: 10.1016/j.leukres.2005.08.015

Leukemia Research
Volume 30, Issue 4 , Pages 373-378 , April 2006

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