Pathological characteristics of gastrointestinal stromal tumours with PDGFRA mutations

References

• Miettinen M, Lasota J. Gastrointestinal stromal tumors—definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows Arch 2001; 438: 1–12
   PubMed Web of Science ®Google Scholar
• Miettinen M, Lasota J. Gastrointestinal stromal tumors (GISTs): definition, occurrence, pathology, differential diagnosis and molecular genetics. Pol J Pathol 2003; 54: 3–24
   PubMedGoogle Scholar
• Robinson T L, Sircar K, Hewlett B R, et al. Gastrointestinal stromal tumors may originate from a subset of CD34-positive interstitial cells of Cajal. Am J Pathol 2000; 156: 1157–1163
   PubMed Web of Science ®Google Scholar
• Sircar K, Hewlett B R, Huizinga J D, et al. Interstitial cells of Cajal as precursors of gastrointestinal stromal tumors. Am J Surg Pathol 1999; 23: 377–389
   PubMed Web of Science ®Google Scholar
• Kindblom L G, Remotti H E, Aldenborg F, et al. pacemaker cell tumor (GIPACT): gastrointestinal stromal tumors show phenotypic characteristics of the interstitial cells of Cajal. Am J Pathol 1998; 152: 1259–1269
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Rubin B P, Singer S, Tsao C, et al. KIT activation is a ubiquitous feature of gastrointestinal stromal tumors. Cancer Res 2001; 61: 8118–8121
   PubMed Web of Science ®Google Scholar
• Lux M L, Rubin B P, Biase T L, et al. KIT extracellular and kinase domain mutations in gastrointestinal stromal tumors. Am J Pathol 2000; 156: 791–795
   PubMed Web of Science ®Google Scholar
• Lasota J, Wozniak A, Sarlomo-Rikala M, et al. Mutations in exons 9 and 13 of KIT gene are rare events in gastrointestinal stromal tumors. A study of 200 cases. Am J Pathol 2000; 157: 1091–1095
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Heinrich M C, Corless C L, Duensing A, et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science 2003; 299: 708–710
   PubMed Web of Science ®Google Scholar
• Hirota S, Ohashi A, Nishida T, et al. Gain-of-function mutations of platelet-derived growth factor receptor alpha gene in gastrointestinal stromal tumors. Gastroenterology 2003; 125: 660–667
   PubMed Web of Science ®Google Scholar
• Medeiros F, Corless C L, Duensing A, et al. KIT-negative gastrointestinal stromal tumors: proof of concept and therapeutic implications. Am J Surg Pathol 2004; 28: 889–894
   PubMed Web of Science ®Google Scholar
• Corless C L, Schroeder A, Griffith D, et al. PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. J Clin Oncol 2005; 23: 5357–5364
   PubMed Web of Science ®Google Scholar
• Lasota J, Dansonka-Mieszkowska A, Sobin L H, et al. A great majority of GISTs with PDGFRA mutations represent gastric tumors of low or no malignant potential. Lab Invest 2004; 84: 874–883
   PubMed Web of Science ®Google Scholar
• Lasota J, Stachura J, Miettinen M. GISTs with PDGFRA exon 14 mutations represent subset of clinically favourable gastric tumors with epithelioid morphology. Lab Invest 2006; 86: 94–100
   PubMed Web of Science ®Google Scholar
• Kang H J, Nam S W, Kim H, et al. Correlation of KIT and platelet-derived growth factor receptor alpha mutations with gene activation and expression profiles in gastrointestinal stromal tumors. Oncogene 2005; 24: 1066–1074
   PubMed Web of Science ®Google Scholar
• Wardelmann E, Hrychyk A, Merkelbach-Bruse S, et al. Association of platelet-derived growth factor receptor alpha mutations with gastric primary site and epithelioid or mixed cell morphology in gastrointestinal stromal tumors. J Mol Diagn 2004; 6: 197–204
   PubMed Web of Science ®Google Scholar
• Wasag B, Debiec-Rychter M, Pauwels P, 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; 17: 889–894
   PubMed Web of Science ®Google Scholar
• Penzel R, Aulmann S, Moock M, et al. The location of KIT and PDGFRA gene mutations in gastrointestinal stromal tumours is site and phenotype associated. J Clin Pathol 2005; 58: 634–639
   PubMed Web of Science ®Google Scholar
• Pauls K, Merkelbach-Bruse S, Thal D, et al. PDGFRalpha- and c-kit-mutated gastrointestinal stromal tumours (GISTs) are characterized by distinctive histological and immunohistochemical features. Histopathology 2005; 46: 166–175
   PubMed Web of Science ®Google Scholar
• Daum O, Grossmann P, Vanecek T, et al. Diagnostic morphological features of PDGFRA-mutated gastrointestinal stromal tumors: molecular genetic and histologic analysis of 60 cases of gastric gastrointestinal stromal tumors. Ann Diagn Pathol 2007; 11: 27–33
   PubMed Web of Science ®Google Scholar
• Heinrich M C, Corless C L, Demetri G D, et al. Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol 2003; 21: 4342–4349
   PubMed Web of Science ®Google Scholar
• Fletcher C D, Berman J J, Corless C, et al. Diagnosis of gastrointestinal stromal tumors: A consensus approach. Hum Pathol 2002; 33: 459–465
   PubMed Web of Science ®Google Scholar
• Isaac J C, Willmore C, Holden J A, et al. A c-kit-negative gastrointestinal stromal tumor with a platelet-derived growth factor receptor alpha mutation. Appl Immunohistochem Mol Morphol 2006; 14: 52–56
   PubMedGoogle Scholar