GISTogram: A graphic presentation of the growing GIST complexity

Virchows Archiv

Volumn 463, Issue 4, 2013, Pages 481-487

  Ricci, Riccardo ^a   Dei Tos, Angelo Paolo ^b   Rindi, Guido ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b TREVISO REGIONAL HOSPITAL   (Italy)

Author keywords

Genotype; GIST; Graph; Immunophenotype

Indexed keywords

2 OXOGLUTARIC ACID; B RAF KINASE; DABRAFENIB; DICHLOROACETIC ACID; HYPOXIA INDUCIBLE FACTOR 1ALPHA; HYPOXIA INDUCIBLE FACTOR 1ALPHA INHIBITOR; IMATINIB; MITOGEN ACTIVATED PROTEIN KINASE; NEW DRUG; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; PROTEIN TYROSINE KINASE INHIBITOR; SORAFENIB; SUCCINATE DEHYDROGENASE; UNCLASSIFIED DRUG;

CANCER CHEMOTHERAPY; CANCER DIAGNOSIS; CANCER REGISTRY; CARNEY COMPLEX; CHONDROMA; DIAGNOSTIC VALUE; ENZYME DEFICIENCY; GASTROINTESTINAL STROMAL TUMOR; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; IMMUNOPHENOTYPING; MOLECULARLY TARGETED THERAPY; NEUROFIBROMATOSIS; PARAGANGLIOMA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVIEW; SIGNAL TRANSDUCTION; SOLID TUMOR; SOMATIC MUTATION; SYNDROME DELINEATION;

GASTROINTESTINAL NEOPLASMS; GASTROINTESTINAL STROMAL TUMORS; GENOTYPE; HUMANS; PHENOTYPE;

EID: 84885593976     PISSN: 09456317     EISSN: 14322307     Source Type: Journal    
DOI: 10.1007/s00428-013-1467-4     Document Type: Review

References (42)

1. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, Kawano K, Hanada M, Kurata A, Takeda M, Muhammad Tunio G, Matsuzawa Y, Kanakura Y, Shinomura Y, Kitamura Y (1998) Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 279:577-580
2. Sarlomo-Rikala M, Kovatich AJ, Barusevicius A, Miettinen M (1998) CD117: a sensitive marker for gastrointestinal stromal tumors that is more specific than CD34. Mod Pathol 11:728-734
3. Kindblom LG, Remotti HE, Aldenborg F, Meis-Kindblom JM (1998) Gastrointestinal pacemaker cell tumor (GIPACT): gastrointestinal stromal tumors show phenotypic characteristics of the interstitial cells of Cajal. Am J Pathol 152:1259-1269
4. Joensuu H, Roberts PJ, Sarlomo-Rikala M, Andersson LC, Tervahartiala P, Tuveson D, Silberman S, Capdeville R, Dimitrijevic S, Druker B, Demetri GD (2001) Effect of the tyrosine kinase inhibitor STI571 in a patient with a metastatic gastrointestinal stromal tumor. N Engl J Med 344:1052-1056
5. Emile JF, Brahimi S, Coindre JM, Bringuier PP, Monges G, Samb P, Doucet L, Hostein I, Landi B, Buisine MP, Neuville A, Bouché O, Cervera P, Pretet JL, Tisserand J, Gauthier A, Le Cesne A, Sabourin JC, Scoazec JY, Bonvalot S, Corless CL, Heinrich MC, Blay JY, Aegerter P (2012) Frequencies of KIT and PDGFRA mutations in the MolecGIST prospective population-based study differ from those of advanced GISTs. Med Oncol 29:1765-1772
6. Steigen SE, Eide TJ, Wasag B, Lasota J, Miettinen M (2007) Mutations in gastrointestinal stromal tumors - a population-based study from Northern Norway. APMIS 115:289-298
7. Corless CL, Barnett CM, Heinrich MC (2011) Gastrointestinal stromal tumours: origin and molecular oncology. Nat Rev Cancer 11:865-878
8. Heinrich MC, Corless CL, Duensing A, McGreevey L, Chen CJ, Joseph N, Singer S, Griffith DJ, Haley A, Town A, Demetri GD, Fletcher CD, Fletcher JA (2003) PDGFRA activating mutations in gastrointestinal stromal tumors. Science 299:708-710
9. Liegl-Atzwanger B, Fletcher JA, Fletcher CD (2010) Gastrointestinal stromal tumors. Virchows Arch 456:111-127
10. West RB, Corless CL, Chen X, Rubin BP, Subramanian S, Montgomery K, Zhu S, Ball CA, Nielsen TO, Patel R, Goldblum JR, Brown PO, Heinrich MC, van de Rijn M (2004) The novel marker, DOG1, is expressed ubiquitously in gastrointestinal stromal tumors irrespective of KIT or PDGFRA mutational status. Am J Pathol 165:107-113
11. Miettinen M, Lasota J (2011) Histopathology of gastrointestinal stromal tumor. J Surg Oncol 104:865-873
12. Novelli M, Rossi S, Rodriguez-Justo M, Taniere P, Seddon B, Toffolatti L, Sartor C, Hogendoorn PC, Sciot R, Van Glabbeke M, Verweij J, Blay JY, Hohenberger P, Flanagan A, Dei Tos AP (2010) DOG1 and CD117 are the antibodies of choice in the diagnosis of gastrointestinal stromal tumours. Histopathology 57:259-270
13. Yamamoto H, Kojima A, Nagata S, Tomita Y, Takahashi S, Oda Y (2011) KIT-negative gastrointestinal stromal tumor of the abdominal soft tissue: a clinicopathologic and genetic study of 10 cases. Am J Surg Pathol 35:1287-1295
14. Maertens O, Prenen H, Debiec-Rychter M, Wozniak A, Sciot R, Pauwels P, De Wever I, Vermeesch JR, de Raedt T, De Paepe A, Speleman F, van Oosterom A, Messiaen L, Legius E (2006) Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients. Hum Mol Genet 15:1015-1023
15. Fuller CE, Williams GT (1991) Gastrointestinal manifestations of type 1 neurofibromatosis (von Recklinghausen's disease). Histopathology 19:1-11
16. Kinoshita K, Hirota S, Isozaki K, Ohashi A, Nishida T, Kitamura Y, Shinomura Y, Matsuzawa Y (2004) Absence of c-kit gene mutations in gastrointestinal stromal tumours from neurofibromatosis type 1 patients. J Pathol 202:80-85
17. Rossi S, Miceli R, Messerini L, Bearzi I, Mazzoleni G, Capella C, Arrigoni G, Sonzogni A, Sidoni A, Toffolatti L, Laurino L, Mariani L, Vinaccia V, Gnocchi C, Gronchi A, Casali PG, Dei Tos AP (2011) Natural history of imatinib-naive GISTs: a retrospective analysis of 929 cases with long-term follow-up and development of a survival nomogram based on mitotic index and size as continuous variables. Am J Surg Pathol 35:1646-1656
18. Agaimy A, Hartmann A (2010) Hereditäre und nichtereditäre syndromale gastrointestinale Stromaltumoren. Pathologe 31:430-437
19. Lasota J, Miettinen M (2006) KIT and PDGFRA mutations in gastrointestinal stromal tumors (GISTs). Semin Diagn Pathol 23:91-102
20. Miettinen M, Wang ZF, Sarlomo-Rikala M, Osuch C, Rutkowski P, Lasota J (2011) Succinate dehydrogenase-deficient GISTs: a clinicopathologic, immunohistochemical, and molecular genetic study of 66 gastric GISTs with predilection to young age. Am J Surg Pathol 35:1712-1721
21. Chou A, Chen J, Clarkson A, Samra JS, Clifton-Bligh RJ, Hugh TJ, Gill AJ (2012) Succinate dehydrogenase-deficient GISTs are characterized by IGF1R overexpression. Modern Pathol 25:1307-1313
22. Pappo AS, Janeway K, Laquaglia M, Kim SY (2011) Special considerations in pediatric gastrointestinal tumors. J Surg Oncol 104:928-932
23. McWhinney SR, Pasini B, Stratakis CA, International Carney Triad and Carney-Stratakis Syndrome Consortium (2007) Familial gastrointestinal stromal tumors and germ-line mutations. N Engl J Med 357:1054-1056
24. Pantaleo MA, Astolfi A, Indio V, Moore R, Thiessen N, Heinrich MC, Gnocchi C, Santini D, Catena F, Formica S, Martelli PL, Casadio R, Pession A, Biasco G (2011) SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing. J Natl Cancer Inst 103:983-987
25. Celestino R, Lima J, Faustino A, Máximo V, Gouveia A, Vinagre J, Soares P, Lopes JM (2012) A novel germline SDHB mutation in a gastrointestinal stromal tumor patient without bona fide features of the Carney-Stratakis dyad. Fam Cancer 11:189-194
26. Janeway KA, Kim SY, Lodish M, Nosé V, Rustin P, Gaal J, Dahia PL, Liegl B, Ball ER, Raygada M, Lai AH, Kelly L, Hornick JL, Pediatric NIH, Wild-Type GIST, Clinic O'SM, de Krijger RR, Dinjens WN, Demetri GD, Antonescu CR, Fletcher JA, Helman L, Stratakis CA (2011) Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. Proc Natl Acad Sci U S A 108:314-318
27. Doyle LA, Nelson D, Heinrich MC, Corless CL, Hornick JL (2012) Loss of succinate dehydrogenase subunit B (SDHB) expression is limited to a distinctive subset of gastric wild-type gastrointestinal stromal tumours: a comprehensive genotype-phenotype correlation study. Histopathology 61:801-809
28. Lasota J, Wang Z, Kim SY, Helman L, Miettinen M (2013) Expression of the receptor for type I insulin-like growth factor (IGF1R) in gastrointestinal stromal tumors: an immunohistochemical study of 1078 cases with diagnostic and therapeutic implications. Am J Surg Pathol 37:114-119
29. Agaram NP, Wong GC, Guo T, Maki RG, Singer S, Dematteo RP, Besmer P, Antonescu CR (2008) Novel V600E BRAF mutations in imatinib-naive and imatinib-resistant gastrointestinal stromal tumors. Genes Chromosomes Cancer 47:853-859
30. Miranda C, Nucifora M, Molinari F, Conca E, Anania MC, Bordoni A, Saletti P, Mazzucchelli L, Pilotti S, Pierotti MA, Tamborini E, Greco A, Frattini M (2012) KRAS and BRAF mutations predict primary resistance to imatinib in gastrointestinal stromal tumors. Clin Cancer Res 18:1769-1776
31. Daniels M, Lurkin I, Pauli R, Erbstösser E, Hildebrandt U, Hellwig K, Zschille U, Lüders P, Krüger G, Knolle J, Stengel B, Prall F, Hertel K, Lobeck H, Popp B, Theissig F, Wünsch P, Zwarthoff E, Agaimy A, Schneider-Stock R (2011) Spectrum of KIT/PDGFRA/BRAF mutations and phosphatidylinositol-3-kinase pathway gene alterations in gastrointestinal stromal tumors (GIST). Cancer Lett 312:43-54
32. Agaimy A, Märkl B, Arnholdt H, Wünsch PH, Terracciano LM, Dirnhofer S, Hartmann A, Tornillo L, Bihl MP (2009) Multiple sporadic gastrointestinal stromal tumours arising at different gastrointestinal sites: pattern of involvement of the muscularis propria as a clue to independent primary GISTs. Virchows Arch 455:101-108
33. Hostein I, Faur N, Primois C, Boury F, Denard J, Emile JF, Bringuier PP, Scoazec JY, Coindre JM (2010) BRAF mutation status in gastrointestinal stromal tumors. Am J Clin Pathol 133:141-148
34. Falchook GS, Trent JC, Heinrich MC, Beadling C, Patterson J, Bastida CC, Blackman SC, Kurzrock R (2013) BRAF mutant gastrointestinal stromal tumor: first report of regression with BRAF inhibitor dabrafenib (GSK2118436) and whole exomic sequencing for analysis of acquired resistance. Oncotarget 4:310-315
35. Jakob JA, Bassett RL Jr, Ng CS, Curry JL, Joseph RW, Alvarado GC, Rohlfs ML, Richard J, Gershenwald JE, Kim KB, Lazar AJ, Hwu P, Davies MA (2012) NRAS mutation status is an independent prognostic factor in metastatic melanoma. Cancer 118:4014-4023
36. Kim J, Lazar AJ, Davies MA, Homsi J, Papadopoulos NE, Hwu WJ, Bedikian AY, Woodman SE, Patel SP, Hwu P, Kim KB (2012) BRAF, NRAS and KIT sequencing analysis of spindle cell melanoma. J Cutan Pathol 39:821-825
37. Blair SL, Al-Refaie WB, Wang-Rodriguez J, Behling C, Ali MW, Moossa AR (2005) Gastrointestinal stromal tumors express ras oncogene: a potential role for diagnosis and treatment. Arch Surg 140:543-547
38. Jakob JA, Bassett RL Jr, Ng CS, Curry JL, Joseph RW, Alvarado GC, Rohlfs ML, Richard J, Gershenwald JE, Kim KB, Lazar AJ, Hwu P, Davies MA (2012) NRAS mutation status is an independent prognostic factor in metastatic melanoma. Cancer 118:4014-4023
39. Sakamoto A, Oda Y, Adachi T, Tamiya S, Matsuda S, Tanaka K, Iwamoto Y, Tsuneyoshi M (2001) H-ras oncogene mutation in dedifferentiated liposarcoma. Polymerase chain reaction-restriction fragment length polymorphism analysis. Am J Clin Pathol 115:235-242
40. Sakamoto A, Oda Y, Adachi T, Oshiro Y, Tamiya S, Tanaka K, Matsuda S, Iwamoto Y, Tsuneyoshi M (2001) H-ras oncogene mutation in dedifferentiated chondrosarcoma: polymerase chain reaction-restriction fragment length polymorphism analysis. Mod Pathol 14:343-349
41. Weihrauch M, Bader M, Lehnert G, Koch B, Wittekind C, Wrbitzky R, Tannapfel A (2002) Mutation analysis of K-ras-2 in liver angiosarcoma and adjacent nonneoplastic liver tissue from patients occupationally exposed to vinyl chloride. Environ Mol Mutagen 40:36-40
42. Wong NACS, Deans ZC, Ramsden SC (2012) The UK NEQAS for molecular genetic scheme for gastrointestinal stromal tumour: findings and recommendations following four rounds of circulation. J Clin Pathol 65:786-790