Somatic activation of KIT in distinct subtypes of melanoma

Journal of Clinical Oncology

Volumn 24, Issue 26, 2006, Pages 4340-4346

  Curtin, John A ^a   Busam, Klaus ^a   Pinkel, Daniel ^a   Bastian, Boris C ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; STEM CELL FACTOR; ANTINEOPLASTIC AGENT; IMATINIB; PIPERAZINE DERIVATIVE; PYRIMIDINE DERIVATIVE; STEM CELL FACTOR RECEPTOR; TUMOR MARKER;

ARTICLE; CANCER LOCALIZATION; CHROMOSOME 4Q; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HUMAN TISSUE; MELANOMA; ONCOGENE N RAS; PRIORITY JOURNAL; SKIN BIOPSY; SUN EXPOSURE; ADULT; AGED; FEMALE; GENE EXPRESSION REGULATION; GENETICS; IMMUNOHISTOCHEMISTRY; MALE; METABOLISM; MICROARRAY ANALYSIS; MIDDLE AGED; NUCLEIC ACID HYBRIDIZATION; SKIN TUMOR;

ADULT; AGED; ANTINEOPLASTIC AGENTS; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MELANOMA; MICROARRAY ANALYSIS; MIDDLE AGED; NUCLEIC ACID HYBRIDIZATION; PIPERAZINES; PROTO-ONCOGENE PROTEINS C-KIT; PYRIMIDINES; SKIN NEOPLASMS; TUMOR MARKERS, BIOLOGICAL;

EID: 33749021085     PISSN: 0732183X     EISSN: None     Source Type: Journal    
DOI: 10.1200/JCO.2006.06.2984     Document Type: Article

References (35)

1. Curtin JA, Fridlyand J, Kageshita T, et al: Distinct sets of genetic alterations in melanoma. N Engl J Med 353:2135-2147, 2005
2. Maldonado JL, Fridlyand J, Patel H, et al: Determinants of BRAF mutations in primary melanomas. J Natl Cancer Inst 95:1878-1880, 2003
3. Bastian BC, Leboit PE, Hamm H, et al: Chromosomal gains and losses in primary cutaneous melanomas detected by comparative genomic hybridization. Cancer Res 58:2170-2175, 1998
4. Snijders AM, Fridlyand J, Mans DA, et al: Shaping of tumor and drug-resistant genomes by instability and selection. Oncogene 22:4370-4379, 2003
5. Bastian BC, LeBoit PE, Pinkel D: Mutations and copy number increase of HRAS in Spitz nevi with distinctive histopathological features. Am J Pathol 157:967-972, 2000
6. Chabot B, Stephenson DA, Chapman VM, et al: The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus. Nature 335:88-89, 1988
7. Geissler EN, Ryan MA, Housman DE: The dominant-white spotting (W) locus of the mouse encodes the C-kit proto-oncogene. Cell 55:185-192, 1988
8. Beghini A, Cairoli R, Morra E, et al: In vivo differentiation of mast cells from acute myeloid leukemia blasts carrying a novel activating ligand-independent c-kit mutation. Blood Cells Mol Dis 24:262-270, 1998
9. Beghini A, Tibiletti M, Roversi G, et al: Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. Cancer 92:657-662, 2001
10. Isozaki K, Terris B, Balghiti J, et al: Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors. Am J Pathol 157:1581-1585, 2000
11. Lux ML, Rubin BP, Biase TL, et al: KIT extracellular and kinase domain mutations in gastrointestinal stromal tumors. Am J Pathol 156:791-795, 2000
12. Wardelmann E, Neidt I, Bierhoff E, et al: C-kit mutations in gastrointestinal stromal tumors occur preferentially in the spindle rather than in the epithelioid cell variant. Mod Pathol 15:125-136, 2002
13. Lassam N, Bickford S: Loss of C-kit expression in cultured melanoma-cells. Oncogene 7:51-56, 1992
14. Natali PG, Nicotra MR, Winkler AB, et al: Progression of human cutaneous melanoma is associated with loss of expression of C-kit protooncogene receptor. Int J Cancer 52:197-201, 1992
15. Zakut R, Pedis R, Eliyahu S, et al: Kit-ligand (mast-cell growth-factor) inhibits the growth of kit-expressing melanoma-cells. Oncogene 8:2221-2229, 1993
16. Huang SY, Luca M, Gutman M, et al: Enforced c-KIT expression renders highly metastatic human melanoma cells susceptible to stem cell factor-induced apoptosis and inhibits their tumorigenic and metastatic potential. Oncogene 13:2339-2347, 1996
17. Montone KT, vanBelle P, Elenitsas R, et al: Proto-oncogene c-kit expression in malignant melanoma: Protein loss with tumor progression. Mod Pathol 10:939-944, 1997
18. Millauer B, Wizigmann-Voos S, Schnurch H, et al: High affinity VEGF binding and developmental expression suggest Flk-1 as a major regulator of vasculogenesis and angiogenesis. Cell 72:835-846, 1993
19. Millauer B, Shawver LK, Plate KH, et al: Glioblastoma growth inhibited in vivo by a dominant-negative Flk-1 mutant. Nature 367:576-579, 1994
20. Straume O, Akslen LA: Expresson of vascular endothelial growth factor, its receptors (FLT-1, KDR) and TSP-1 related to microvessel density and patient outcome in vertical growth phase melanomas. Am J Pathol 159:223-235, 2001
21. Heinrich MC, Corless CL, Duensing A, et al: PDGFRA activating mutations in gastrointestinal stromal tumors. Science 299:708-710, 2003
22. Hiwatari M, Taki T, Tsuchida M, et al: Novel missense mutations in the tyrosine kinase domain of the platelet-derived growth factor receptor [alpha](PDGFRA) gene in childhood acute myeloid leukemia with t(8;21)(q22;q22) or inv(16)(p13q22). Leukemia 19:476-477, 2005
23. Willmore-Payne C, Holden JA, Tripp S, et al: Human malignant melanoma: Detection of BRAF-and c-kit-activating mutations by high-resolution amplicon melting analysis. Hum Pathol 36:486-493, 2005
24. Ohashi A, Funasaka Y, Ueda M, et al: C-KIT receptor expression in cutaneous malignant melanoma and benign melanocytic naevi. Melanoma Res 6:25-30, 1996
25. Lennartsson J, Blume-Jensen P, Hermanson M, et al: Phosphorylation of Shc by Src family kinases is necessary for stem cell factor receptor/ c-kit mediated activation of the Ras/MAP kinase pathway and c-fos induction. Oncogene 18:5546-5553, 1999
26. Mol CD, Dougan DR, Schneider TR, et al: Structural basis for the autoinhibition and STI-571 inhibition of c-Kit tyrosine kinase. J Biol Chem 279: 31655-31663, 2004
27. Heinrich MC, Corless CL, Demetri GD, et al: Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol 21:4342-4349, 2003
28. Frost MJ, Ferrao PT, Hughes TP, et al: Juxtamembrane mutant V560GKit is more sensitive to imatinib (STI571) compared with wild-type c-kit whereas the kinase domain mutant D816VKit is resistant. Mol Cancer Ther 1:1115-1124, 2002
29. Ma YS, 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 99: 1741-1744, 2002
30. Eton O, Billings L, Kim K, et al: Phase II trial of imatinib mesylate (STI-571) in metastatic melanoma (MM). J Clin Oncol 22:114s, 2004 (suppl; abstr 1528)
31. Sihto H, Sarlomo-Rikala M, Tynninen O, et al: KIT and platelet-derived growth factor receptor alpha tyrosine kinase gene mutations and KIT amplifications in human solid tumors. J Clin Oncol 23:49-57, 2005
32. Tarn C, Merkel E, Canutescu AA, et al: Analysis of KIT mutations in sporadic and familial gastrointestinal stromal tumors: Therapeutic implications through protein modeling. Clin Cancer Res 11:3668-3677, 2005
33. Bastian BC, Kashani-Sabet M, Hamm H, et al: Gene amplifications characterize acral melanoma and permit the detection of occult tumor cells in the surrounding skin. Cancer Res 60:1968-1973, 2000
34. Tian QS, Frierson HF, Krystal GW, et al: Activating c-kit gene mutations in human germ cell tumors. Am J Pathol 154:1643-1647, 1999
35. Taniguchi M, Nishida T, Hirota S, et al: Effect of c-kit mutation on prognosis of gastrointestinal stromal tumors. Cancer Res 59:4297-4300, 1999