KIT immunohistochemistry and mutation status in gastrointestinal stromal tumours (GISTs) evaluated for treatment with imatinib

Histopathology

Volumn 49, Issue 1, 2006, Pages 52-65

  Loughrey, M B ^a,b   Trivett, M ^a   Beshay, V ^a   Dobrovic, A ^a   Kovalenko, S ^a   Murray, W ^a   Lade, S ^a   Turner, H ^a   McArthur, G A ^a   Zalcberg, J ^a   Waring, P M ^a  

^a PETER MACCALLUM CANCER CENTRE   (Australia)

^b ROYAL GROUP OF HOSPITALS   (United Kingdom)

Author keywords

Gastrointestinal stromal tumour; GIST; Imatinib; Immunohistochemistry; KIT

Indexed keywords

CD34 ANTIGEN; DESMIN; IMATINIB; PROTEIN S 100; SMOOTH MUSCLE ACTIN; STEM CELL FACTOR RECEPTOR;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; DIAGNOSTIC VALUE; FEMALE; GASTROINTESTINAL STROMAL TUMOR; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MICROMORPHOLOGY; NUCLEOTIDE SEQUENCE; ONCOGENE C KIT; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; ANTINEOPLASTIC AGENTS; BASE SEQUENCE; DNA PRIMERS; DNA, NEOPLASM; FEMALE; GASTROINTESTINAL STROMAL TUMORS; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PIPERAZINES; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS C-KIT; PYRIMIDINES; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR ALPHA;

EID: 33745669876     PISSN: 03090167     EISSN: 13652559     Source Type: Journal    
DOI: 10.1111/j.1365-2559.2006.02464.x     Document Type: Article

References (43)

1. 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; 1259-1269.
2. Robinson TL, Sircar K, Hewlett BR, Chorneyko K, Riddell RH, Huizinga JD. Gastrointestinal stromal tumors may originate from a subset of CD34-positive interstitial cells of Cajal. Am. J. Pathol. 2000; 156; 1157-1163.
3. Yarden Y, Kuang WJ, Yang-Feng T et al. Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand. EMBO J. 1987; 6; 3341-3351.
4. Kitamura Y, Hirota S, Nishida T. Molecular pathology of c-kit proto-oncogene and development of gastrointestinal stromal tumors. Ann. Chir. Gynaecol. 1998; 87; 282-286.
5. 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.
6. Nakahara M, Isozaki K, Hirota S et al. A novel gain-of-function mutation of c-kit gene in gastrointestinal stromal tumors. Gastroenterology 1998; 115; 1090-1095.
7. Medeiros F, Corless CL, Duensing A et al. KIT-negative gastrointestinal stromal tumors: proof of concept and therapeutic implications. Am. J. Surg. Pathol. 2004; 28; 889-894.
8. Heinrich MC, Corless CL, Duensing A et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science 2003; 299; 708-710.
9. 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; 874-883.
10. Joensuu H, Roberts PJ, Sarlomo-Rikala M et al. Effect of the tyrosine kinase inhibitor STI571 in a patient with a metastatic gastrointestinal stromal tumor. N. Engl J. Med. 2001; 344; 1052-1056.
11. 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.
12. Druker BJ, Tamura S, Buchdunger E et al. Effects of a selective inhibitor of the Abl tyrosine kinase on the growth of Bcr-Abl positive cells. Nat. Med. 1996; 2; 561-566.
13. Druker BJ, Lydon NB. Lessons learned from the development of an abl tyrosine kinase inhibitor for chronic myelogenous leukemia. J. Clin. Invest. 2000; 105; 3-7.
14. van Oosterom AT, Judson I, Verweij J et al. Safety and efficacy of imatinib (STI571) in metastatic gastrointestinal stromal tumours: a phase I study. Lancet 2001; 358; 1421-1423.
15. Hamilton SR, Aaltonen LA eds. World Health Organisation classification of tumours. Pathology and genetics of tumours of the gastrointestinal tract. Lyon: IARC Press 2000.
16. Miettinen M, Lasota J. Gastrointestinal stromal tumors - definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows Arch. 2001; 438; 1-12.
17. http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= 4557694 [accessed on 16 May 2006].
18. http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= 15451787 [accessed on 16 May 2006].
19. Corless CL, Fletcher JA, Heinrich MC. Biology of gastrointestinal stromal tumors. J. Clin. Oncol. 2004; 22; 3813-3825.
20. Hughes B, Yip D, Goldstein D, Waring P, Beshay V, Chong G. Cerebral relapse of metastatic gastrointestinal stromal tumor during treatment with imatinib mesylate: case report. BMC Cancer 2004; 4; 74.
21. Bauer S, Corless CL, Heinrich MC et al. Response to imatinib mesylate of a gastrointestinal stromal tumor with very low expression of KIT. Cancer Chemother. Pharmacol. 2003; 51; 261-265.
22. Pauls K, Merkelbach-Bruse S, Thal D, Buttner R, Wardelmann E. PDGFRalpha- and c-kit-mutated gastrointestinal stromal tumours (GISTs) are characterized by distinctive histological and immunohistochemical features. Histopathology 2005; 46; 166-175.
23. Heinrich MC, Corless CL, Demetri GD et al. Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J. Clin. Oncol. 2003; 21; 4342-4349.
24. Rossi G, Valli R, Bertolini F et al. PDGFR expression in differential diagnosis between KIT-negative gastrointestinal stromal tumours and other primary soft-tissue tumours of the gastrointestinal tract. Histopathology 2005; 46; 522-531.
25. West RB, Corless CL, Chen X et al. The novel marker, DOG1, is expressed ubiquitously in gastrointestinal stromal tumors irrespective of KIT or PDGFRA mutation status. Am. J. Pathol. 2004; 165; 107-113.
26. Miettinen M. New challenges in the identification of gastrointestinal stromal tumors and other possible KIT-driven tumors. Am. J. Clin. Pathol. 2002; 117; 183-185.
27. de Silva CM, Reid R. Gastrointestinal stromal tumors (GIST): C-kit mutations, CD117 expression, differential diagnosis and targeted cancer therapy with Imatinib. Pathol. Oncol. Resist. 2003; 9; 13-19.
28. Mace J, Sybil Biermann J, Sondak V et al. Response of extra-abdominal desmoid tumors to therapy with imatinib mesylate. Cancer 2002; 95; 2373-2379.
29. Rodriguez JA, Guarda LA, Rosai J. Mesenteric fibromatosis with involvement of the gastrointestinal tract. A GIST simulator: a study of 25 cases. Am. J. Clin. Pathol. 2004; 121; 93-98.
30. Yantiss RK, Spiro IJ, Compton CC, Rosenberg AE. Gastrointestinal stromal tumor versus intra-abdominal fibromatosis of the bowel wall: a clinically important differential diagnosis. Am. J. Surg. Pathol. 2000; 24; 947-957.
31. Hornick JL, Fletcher CD. Immunohistochemical staining for KIT (CD117) in soft tissue sarcomas is very limited in distribution. Am. J. Clin. Pathol. 2002; 117; 188-193.
32. Lucas DR, al-Abbadi M, Tabaczka P, Hamre MR, Weaver DW, Mott MJ. c-Kit expression in desmoid fibromatosis. Comparative immunohistochemical evaluation of two commercial antibodies. Am. J. Clin. Pathol. 2003; 119; 339-345.
33. Blay JY, Bonvalot S, Casali P et al. Consensus meeting for the management of gastrointestinal stromal tumors. Report of the GIST Consensus Conference of 20-21 March 2004, under the auspices of ESMO. Ann. Oncol. 2005; 16; 566-578.
34. Nilsson B, Bumming P, Meis-Kindblom JM et al. Gastrointestinal stromal tumors: the incidence, prevalence, clinical course, and prognostication in the preimatinib mesylate era - a population-based study in western Sweden. Cancer 2005; 103; 821-829.
35. Miettinen M, Sobin LH, Lasota J. Gastrointestinal stromal tumors of the stomach: a clinicopathologic, immunohistochemical, and molecular genetic study of 1765 cases with long-term follow-up. Am. J. Surg. Pathol. 2005; 29; 52-68.
36. Ibrahim M. The Alimentary Tract (Pilot) Module (Run 65). Immunocytochemistry 2005; 3; 168-171.
37. Happerfield L, Ibrahim M. The Alimentary Tract (Pilot) Module (Run 63). Immunocytochemistry 2005; 3; 77-79.
38. 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. 2002; 15; 125-136.
39. Dibb NJ, Dilworth SM, Mol CD. Switching on kinases: oncogenic activation of BRAF and the PDGFR family. Nat. Rev. Cancer 2004; 4; 718-727.
40. 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.
41. 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.
42. 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 Resist. 2003; 9; 3329-3337.
43. Lasota J, Kopczynski J, Sarlomo-Rikala M et al. KIT 1530ins6 mutation defines a subset of predominantly malignant gastrointestinal stromal tumors of intestinal origin. Hum. Pathol. 2003; 34; 1306-1312.