Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation

Laboratory Investigation

Volumn 87, Issue 4, 2007, Pages 365-371

  Nakagomi, Nami ^a,b   Hirota, Seiichi ^a  

^a HYOGO COLLEGE OF MEDICINE   (Japan)

^b WAKAYAMA MEDICAL UNIVERSITY   (Japan)

Author keywords

c kit gene; Gain of function mutation; Imatinib; Juxtamembrane type; Systemic aggressive mastocytosis

Indexed keywords

COMPLEMENTARY DNA; IMATINIB; MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN TYROSINE KINASE INHIBITOR; STAT5 PROTEIN; STEM CELL FACTOR RECEPTOR;

AGED; ARTICLE; AUTOPHOSPHORYLATION; C KIT GENE; CODON; CONTROLLED STUDY; EMBRYO; GASTROINTESTINAL STROMAL TUMOR; GENE; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HUMAN TISSUE; KIDNEY CELL; MASTOCYTOMA; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SYSTEMIC MASTOCYTOSIS;

AGED; ANTINEOPLASTIC AGENTS; CELL LINE; HUMANS; MALE; MAP KINASE SIGNALING SYSTEM; MASTOCYTOSIS, SYSTEMIC; MUTATION; PHOSPHORYLATION; PIPERAZINES; PROTEIN STRUCTURE, TERTIARY; PROTO-ONCOGENE PROTEINS C-KIT; PYRIMIDINES; SIGNAL TRANSDUCTION; STAT5 TRANSCRIPTION FACTOR; TRANSFECTION;

EID: 33947520803     PISSN: 00236837     EISSN: 15300307     Source Type: Journal    
DOI: 10.1038/labinvest.3700524     Document Type: Article

References (30)

1. Valent P, Hormy HP, Li C. Mastocytosis. In: Jaffe ES, Harris NL, Stein H, Vardiman JW (eds). World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Haematopoietic and Lymphoid tissues. IARC Press: Lyon, 2001, pp 293-301.
2. Hauswirth AW, Simonitsch-Klupp I, Uffmann M, et al. Response to therapy with interferon alpha-2b and prednisolon in aggressive systemic mastocytosis. Leuk Res 2004;28:223-224.
3. Valent P, Horny HP, Escribano L, et al. Diagnostic criteria and classification of masatocytosis: a consensus proposal. Leuk Res 2001;25:603-625.
4. Chabot B, Stephenson DA, Chapman VM, et al. The protp-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus. Nature 1988;335:88-89.
5. Zsebo KM, Williams DA, Geissler EN, et al. Stem cell factor is encoded at the Sl locus of the mouse and is the ligand for the c-kit tyrosine kinase receptor. Cell 1990;63:213-224.
6. Maeda H, Yamagata A, Nishikawa S, et al. Requirement of c-kit for development of intestinal pacemaker system. Development 1992;116:369-375.
7. Furitsu T, Tsujimura T, Tono T, 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.
8. Nagata H, Worobec AS, Oh CK, et al. Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci USA 1995;92:10560-10564.
9. Longley Jr BJ, Metcalfe DD, Tharp M, et al. Activating and dominant inactivatingc-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci USA 1999;96:1609-1614.
10. Hirota S, Isozaki K, Moriyama Y, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 1998;279: 577-580.
11. Bittner C, Henz BM, Welker P, et al. 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.
12. Akin C, Fumo G, Yavuz AS, et al. A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib. Blood 2004;103:3222-3235.
13. Lux ML, Rubin BP, Biase TL, et al. KIT extracellular and kinase domain mutations in gastrointestinal stromal tumors. Am J Pathol 2000;156:791-795.
14. Hirota S, Nishida T, Isozaki K, et al. Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. J Pathol 2001;193:505-510.
15. Kinoshita K, Isozaki K, Hirota S, et al. c-kit gene mutation at exon 17 or 13 is very rare in sporadic gastrointestinal stromal tumors. J Gastroenterol Hepatol 2003;18:147-151.
16. 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.
17. 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.
18. Demetri GD, von Mehren M, Blanke CD, et al. Efficacy and safety of imatinib mesylate in advanced gastrointestinal stromal tumors. N Engl J Med 2002;347:472-480.
19. Taniguchi M, Nishida T, Hirota S, et al. Effect of c-kit mutation on prognosis of gastrointestinal stromal tumors. Cancer Res 1999;59:4297-4300.
20. Rubin BP, Singer S, Tsao C, et al. KIT activation is a ubiquitous feature of gastrointestinal stromal tumors. Cancer Res 2001;61:8118-8121.
21. Antonescu CR, Sommer G, Sarran L, et al. Association of KIT exon 9 mutations with nongastric primary site and aggressive behavior: KIT mutation analysis and clinical correlates of 120 gastrointestinal stromal tumors. Clin Cancer Res 2003;9:3329-3337.
22. Andersson J, Bumming P, Meis-Kindblom JM, et al. Gastrointestinal stromal tumors with KIT exon 11 deletions are associated with poor prognosis. Gastroenterology 2006;130:1573-1581.
23. Lasota J, Miettinen M. KIT and PDGFRA mutations in gastrointestinal stromal tumors (GISTs). Semin Diagn Pathol 2006;23:91-102.
24. Ohashi A, Kinoshita K, Isozaki K, et al. Different inhibitory effect of imatinib on phosphorylation of mitogen-activated protein kinase and Akt and on proliferation in cells expressing different types of mutant platelet-derived growth factor receptor-alpha. Int J Cancer 2004;111:317-321.
25. Ning ZQ, Li J, McGuinness M, et al. STAT3 activation is required for Asp(816) mutant c-Kit induced tumorigenicity. Oncogene 2001;20:4528-4536.
26. Heinrich MC, Griffith DJ, Druker BJ, et al. Inhibition of c-kit receptor tyrosine kinase activity by STI 571, a selective tyrosine kinase inhibitor. Blood 2000;96:925-932.
27. Growney JD, Clark JJ, Adelsperger J, et al. Activation mutation of human c-KIT resistant to imatinib mesylateare sensitive to the tyrosine kinase inhibitor PKC412. Blood 2005;106:721-724.
28. Schittenhelm MM, Shiraga S, Schroeder A, et al. Dasatinib (BMS-354825), a dualSRC/ABL kinase inhibitor, inhibits the kinase activity of wild-type, juxtamembrane, and activation loop mutant KIT isoforms associated with human malignancies. Cancer Res 2006;66:473-481.
29. Corbin AS, Griswold IJ, La Rosee P, et al. Sensitivity of oncogenic KIT mutants to the kinase inhibitors LN518 and PD180970. Blood 2004;104:3754-3757.
30. Corbin AS, Demehri S, Griswold IJ, et al. In vitro and in vivo activity of ATP-based kinase inhibitors AP23464 and AP23848 against activation-loop mutants of Kit. Blood 2005;106:227-234.