Platelet-derived growth factor receptor family mutations in gastrointestinal stromal tumours

References

• Kindblom LG, Remotti HE, Aldenborg F, Meis-Kindblom JM. Gastrointestinal pacemaker cell tumor (GIPACT): gastrointestinal stromal tumors show phenotypic characteristics of the interstitial cells of Cajal. Am J Pathol 1998; 152: 1259–69
   PubMed Web of Science ®Google Scholar
• Sarlomo-Rikala M, Kovatich AJ, Barusevicius A, Miettinen M. CD117: a sensitive marker for gastrointestinal stromal tumors that is more specific than CD34. Mod Pathol 1998; 11: 728–34
   PubMed Web of Science ®Google Scholar
• Yarden Y, Kuang WJ, Yang-Feng T, Coussens L, Munemitsu S, Dull TJ, et al. Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand. EMBO J 1987; 6: 3341–51
   PubMed Web of Science ®Google Scholar
• Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 1998; 279: 577–80
   PubMed Web of Science ®Google Scholar
• Corless CL, Fletcher JA, Heinrich MC. Biology of gastrointestinal stromal tumors. J Clin Oncol 2004; 22: 3813–25
   PubMed Web of Science ®Google Scholar
• Heinrich MC, Corless CL, Duensing A, McGreevey L, Chen CJ, Joseph N, et al. PDGFRA mutations in gastrointestinal stromal tumors. Science 2003; 299: 708–10
   PubMed Web of Science ®Google Scholar
• Hirota S, Ohashi A, Nishida T, Isozaki K, Kinoshita K, Shinomura Y, et al. Gain-of-function mutations of platelet-derived growth factor receptor α gene in gastrointestinal stromal tumors. Gastroenterology 2003; 125: 660–7
   PubMed Web of Science ®Google Scholar
• Lasota J, Dansonka-Mieszkowska A, Sobin LH, Miettinen M. A great majority of GISTs with PDGFRA mutations represent gastric tumors of low or no malignant potential. Lab Invest 2004; 84: 874–83
   PubMed Web of Science ®Google Scholar
• Wasag B, Debiec-Rychter M, Pauwels P, Stul M, Vranckx H, Oosterom AV, et al. Differential expression of KIT/PDGFRA mutant isoforms in epithelioid and mixed variants of gastrointestinal stromal tumors depends predominantly on the tumor site. Mod Pathol 2004; 8: 889–94
   Google Scholar
• Andre C, Martin E, Cornu F, Hu WX, Wang XP, Galibert F. Genomic organization of the human c-kit gene: evolution of the receptor tyrosine kinase subclass III. Oncogene 1992; 7: 685–91
   PubMed Web of Science ®Google Scholar
• Ullrich A, Schlessinger J. Signal transduction by receptors with tyrosine kinase activity. Cell 1990; 61: 203–12
   PubMed Web of Science ®Google Scholar
• Duensing A, Medeiros F, McConarty B, Joseph NE, Panigrahy D, Singer S, et al. Mechanisms of oncogenic KIT signal transduction in primary gastrointestinal stromal tumors (GISTs). Oncogene 2004; 23: 1–8
   PubMedGoogle Scholar
• Antonescu CR, Viale A, Sarran L, Tschernyavsky SJ, Gonen M, Segal NH, et al. Gene expression in gastrointestinal stromal tumors is distinguished by KIT genotype and anatomic site. Clin Cancer Res 2004; 10: 3282–90
   PubMed Web of Science ®Google Scholar
• Capdeville R, Buchdunger E, Zimmermann J, Matter A. Glivec (STI571, imatinib), a rationally developed, targeted anticancer drug. Nat Rev Drug Discov 2002; 1: 493–502
   PubMed Web of Science ®Google Scholar
• Dewar AL, Cambareri AC, Zannettino ACW, Miller BL, Doherty KV, Hughes TP, et al. Macrophage colony-stimulating factor receptor c-fms is a novel target of imatinib. Blood 2005; 105: 3127–32
   PubMed Web of Science ®Google Scholar
• Joensuu H, Roberts PJ, Sarlomo-Rikala M, Andersson LC, Tervahartiala P, Tuveson D, et al. Effect of the tyrosine kinase inhibitor STI571 in a patients with metastatic gastrointestinal stromal tumor. N Engl J Med 2001; 344: 1052–6
   PubMed Web of Science ®Google Scholar
• Demetri GD, von Mehren M, Blanke CD, Van den Abbeele AD, Eisenberg B, Roberts PJ, et al. Efficacy and safety of imatinib mesylate in advanced gastrointestinal stromal tumors. N Engl J Med 2002; 347: 472–80
   PubMed Web of Science ®Google Scholar
• Heinrich MC, Corless CL, Demetri GD, Blanke CD, von Mehren M, Joensuu H, et al. Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol 2003; 21: 4342–9
   PubMed Web of Science ®Google Scholar
• Debiec-Rychter M, Dumez H, Judson I, Wasag B, Verweij J, Brown M, et al. Use of c-KIT/PDGFRA mutational analysis to predict the clinical response to imatinib in patients with advanced gastrointestinal stromal tumours entered on phase I and II studies of the EORTC Soft Tissue and Bone Sarcoma Group. Eur J Cancer 2004; 40: 689–95
   PubMed Web of Science ®Google Scholar
• Antonescu CR, Sommer G, Sarran L, Tschernyavsky SJ, Riedel E, Woodruff JM, 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: 3329–37
   PubMed Web of Science ®Google Scholar
• Lasota J, Kopczynski J, Sarlomo-Rikala M, Schneider-Stock R, Stachura T, Kordek R, et al. KIT 1530ins6 mutation defines a subset of predominantly malignant gastrointestinal stromal tumors of intestinal origin. Hum Pathol 2003; 34: 1306–12
   PubMed Web of Science ®Google Scholar
• Lasota J, Dansonka-Mieszkowska A, Stachura T, Schneider-Stock R, Kallajoki M, Steigen SE, et al. Gastrointestinal stromal tumors with internal tandem duplications in 3′ end of KIT juxtamembrane domain occur predominantly in stomach and generally seem to have a favorable course. Mod Pathol 2003; 16: 1257–64
   PubMed Web of Science ®Google Scholar
• Fletcher CD, Berman JJ, Corless C, Gorstein F, Lasota J, Longley BJ, et al. Diagnosis of gastrointestinal stromal tumors: a consensus approach. Hum Pathol 2002; 33: 459–65
   PubMed Web of Science ®Google Scholar
• Sihto H, Sarlomo-Rikala M, Tynninen O, Tanner M, Andersson LC, Franssila K, et al. KIT and platelet-derived growth factor receptor alpha tyrosine kinase gene mutations and KIT amplifications in human solid tumors. J Clin Oncol 2005; 23: 49–57
   PubMed Web of Science ®Google Scholar
• Prakash S, Sarran L, Socci N, DeMatteo RP, Eisenstat J, Greco AM, et al. Gastrointestinal stromal tumors in children and young adults: a clinicopathologic, molecular, and genomic study of 15 cases and review of the literature. J Pediatr Hematol Oncol 2005; 27: 179–87
   PubMed Web of Science ®Google Scholar
• Carney JA. Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney triad): natural history, adrenocortical component, and possible familial occurrence. Mayo Clin Proc 1999; 74: 543–52
   PubMed Web of Science ®Google Scholar
• Andersson, J, Sihto, H, Meis-Kindblom, JM, Joensuu, H, Nupponen, N, Kindblom, LG. NF1-associated gastrointestinal stromal tumors have unique clinical, phenotypic, and genotypic characteristics. Am J Surg Pathol. 2005;9:1170–6
   Google Scholar
• Abu-Duhier FM, Goodeve AC, Care RS, Gari M, Wilson GA, Peake IR, et al. Mutational analysis of class III receptor tyrosine kinases (C-KIT, C-FMS, FLT3) in idiopathic myelofibrosis. Br J Haematol 2003; 120: 464–70
   PubMed Web of Science ®Google Scholar
• Stirewalt DL, Radich JP. The role of FLT3 in haematopoietic malignancies. Nat Rev Cancer 2003; 3: 650–65
   PubMed Web of Science ®Google Scholar
• Jones AV, Cross NCP. Oncogenic derivates of platelet-derived growth factor receptors. Cell Mo Life Sci 2004; 61: 2912–23
   PubMed Web of Science ®Google Scholar
• Chiara F, Goumans MJ, Forsberg H, Ahgren A, Rasola A, Aspenstrom P, et al. A gain of function mutation in the activation loop of platelet-derived growth factor beta-receptor deregulates its kinase activity. J Biol Chem 2004; 279: 42518–27
   Google Scholar
• Lasota, J, Stachura, J, Miettinen, M. GISTs with PDGFRA exon 14 mutations represent subset of clinically favorable gastric tumors with epithelioid morphology. Lab Invest 2006;1:94–100.
   Google Scholar