KIT and PDGFRA mutations and PDGFRA immunostaining in gastrointestinal stromal tumors

Molecular Medicine Reports

Volumn 4, Issue 1, 2011, Pages 3-8

  Barreca, Antonella ^a   Fornari, Alessandro ^a   Bonello, Lisa ^b   Tondat, Fabrizio ^b   Chiusa, Luigi ^a   Lista, Patrizia ^c   Pich, Achille ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b Center for Experimental Research and Medical Studies CERMS   (Italy)

^c AOU San Giovanni Battista   (Italy)

Author keywords

Gastrointestinal stromal tumors; KIT and platelet derived growth factor receptor (PDGFRA) mutations; PDGFRA 'dotlike' decoration; PDGFRA immunohistochemistry; Prognosis

Indexed keywords

GENOMIC DNA; IMATINIB; KI 67 ANTIGEN; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; TUMOR MARKER;

ADULT; AGED; ARTICLE; CANCER SURGERY; CLINICAL ARTICLE; DISEASE FREE SURVIVAL; DISTANT METASTASIS; DNA EXTRACTION; DNA SEQUENCE; EVALUATION AND FOLLOW UP; EXON; FEMALE; GASTROINTESTINAL STROMAL TUMOR; GENE DUPLICATION; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INDEL MUTATION; LARGE INTESTINE; MALE; MITOSIS INDEX; PROGNOSIS; RELAPSE; RISK ASSESSMENT; SMALL INTESTINE; STOMACH; TISSUE SECTION; TUMOR GENE; TUMOR LOCALIZATION;

ADULT; GASTROINTESTINAL STROMAL TUMORS; HUMANS; IMMUNOCHEMISTRY; MUTATION; PROTO-ONCOGENE PROTEINS C-KIT; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR ALPHA;

EID: 78651403041     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: 10.3892/mmr.2010.399     Document Type: Article

References (33)

1. Hirota S, Isozaki K, Moriyama Y, et al: Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 279: 577-580, 1998. (Pubitemid 28067289)
2. Dei Tos AP: The reappraisal of gastrointestinal stromal tumors: from Stout to the KIT revolution. Virchows Arch 442: 421-428, 2003. (Pubitemid 36718308)
3. Heinrich MC, Corless CL, Duensing A, McGreevey L, Chen CJ, Joseph N, Singer S, Griffith DJ, Haley A, Town A, Demetri GD, Fletcher CD and Fletcher JA: PDGFRA activating mutations in gastrointestinal stromal tumors. Science 299: 708-710, 2003. (Pubitemid 36159485)
4. Lasota J and Miettinen M: KIT and PDGFRA mutations in gastrointestinal stromal tumors (GISTs). Semin Diagn Pathol 23: 91-102, 2006. (Pubitemid 44692417)
5. Singer S, Rubin BP, Lux ML, Chen CJ, Demetri GD, Fletcher CD and Fletcher JA: Prognostic value of KIT mutation type, mitotic activity, and histologic subtype in gastrointestinal stromal tumors. J Clin Oncol 20: 3898-3905, 2002.
6. Wardelmann E, Losen I, Hans V, Neidt I, Speidel N, Bierhoff E, Heinicke T, Pietsch T, Büttner R and Merkelbach-Bruse S: Deletion of Trp-557 and Lys-558 in the juxtamembrane domain of the c-kit protooncogene is associated with metastatic behavior of gastrointestinal stromal tumors. Int J Cancer 106: 887-895, 2003. (Pubitemid 37071667)
7. Iesalnieks I, Rümmele P, Dietmaier W, Jantsch T, Zülke C, Schlitt HJ, Hofstädter F and Anthuber M: Factors associated with disease progression in patients with gastrointestinal stromal tumors in the pre-imatinib era. Am J Clin Pathol 24: 740-748, 2005. (Pubitemid 41532509)
8. Martín J, Poveda A, Llombart-Bosch A, Ramos R, López-Guerrero JA, García del Muro J, Maurel J, Calabuig S, Gutierrez A, González de Sande JL, Martínez J, De Juan A, Laínez N, Losa F, Alija V, Escudero P, Casado A, García P, Blanco R and Buesa JM; Spanish Group for Sarcoma Research: Deletions affecting codons 557-558 of the c-KIT gene indicate a poor prognosis in patients with completely resected gastrointestinal stromal tumors: a study by the Spanish Group for Sarcoma Research (GEIS). J Clin Oncol 23: 6190-6198, 2005.
9. Andersson J, Bümming P, Meis-Kindblom JM, Sihto H, Nupponen N, Joensuu H, Odén A, Gustavsson B, Kindblom LG and Nilsson B: Gastrointestinal stromal tumors with KIT exon 11 deletions are associated with poor prognosis. Gastroenterology 130: 1573-1581, 2006. (Pubitemid 43668833)
10. Braconi C, Bracci R, Bearzi I, Bianchi F, Costagliola A, Catalani R, Mandolesi A, Ranaldi R, Galizia E, Cascinu S, Rossi G, Giustini L, Latini L, Valeri N and Cellerino R: KIT and PDGFRalpha mutations in 104 patients with gastrointestinal stromal tumors (GISTs): a population-based study. Ann Oncol 19: 706-710, 2008. (Pubitemid 351461041)
11. DeMatteo RP, Gold JS, Saran L, Gönen M, Liau KH, Maki RG, Singer S, Besmer P, Brennan MF and Antonescu CR: Tumor mitotic rate, size, and location independently predict recurrence after resection of primary gastrointestinal stromal tumor (GIST). Cancer 112: 608-615, 2008. (Pubitemid 351186201)
12. Lasota J and Miettinen M: Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumours. Histopathology 53: 245-266, 2008.
13. Kontogianni-Katsarou K, Dimitriadis E, Lariou C, Kairi-Vassilatou E, Pandis N and Kondi-Paphiti A: KIT exon 11 codon 557/558 deletion/insertion mutations define a subset of gastrointestinal stromal tumors with malignant potential. World J Gastroenterol 14: 1891-1897, 2008.
14. Lasota J, Dansonka-Mieszkowska A, Stachura T, Schneider-Stock R, Kallajoki M, Steigen SE, Sarlomo-Rikala M, Boltze C, Kordek R, Roessner A, Stachura J and Miettinen M: 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 16: 1257-1264, 2003. (Pubitemid 38018608)
15. Rubin BP, Singer S, Tsao C, Duensing A, Lux ML, Ruiz R, Hibbard MK, Chen CJ, Xiao S, Tuveson DA, Demetri GD, Fletcher CD and Fletcher JA: KIT activation is a ubiquitous feature of gastrointestinal stromal tumors. Cancer Res 61: 8118-8121, 2001. (Pubitemid 33091601)
16. Corless CL, McGreevey L, Haley A, Town A and Heinrich MC: KIT mutations are common in incidental gastrointestinal stromal tumors one centimeter or less in size. Am J Pathol 160: 1567-1572, 2002. (Pubitemid 34525636)
17. Kim TW, Lee H, Kang YK, Choe MS, Ryu MH, Chang HM, Kim JS, Yook JH, Kim BS and Lee JS: Prognostic significance of c-kit mutation in localized gastrointestinal stromal tumors. Clin Cancer Res 10: 3076-3081, 2004. (Pubitemid 38619686)
18. Antonescu CR, Besmer P, Guo T, Arkun K, Hom G, Koryotowski B, Leversha MA, Jeffrey PD, Desantis D, Singer S, Brennan MF, Maki RG and DeMatteo RP: Acquired resistance to imatinib in gastrointestinal stromal tumor occurs through secondary gene mutation. Clin Cancer Res 11: 4182-4190, 2005. (Pubitemid 40791584)
19. Debiec-Rychter M, Cools J, Dumez H, Sciot R, Stul M, Mentens N, Vranckx H, Wasag B, Prenen H, Roesel J, Hagemeijer A, van Oosterom A and Marynen P: Mechanisms of resistance to imatinib mesylate in gastrointestinal stromal tumors and activity of the PKC412 inhibitor against imatinib-resistant mutants. Gastroenterology 128: 270-279, 2005. (Pubitemid 40431080)
20. Miettinen M and Lasota J: Gastrointestinal stromal tumors: pathology and prognosis at different sites. Semin Diagn Pathol 23: 70-83, 2006. (Pubitemid 44692418)
21. Hornick JL and Fletcher CD: The role of KIT in the management of patients with gastrointestinal stromal tumors. Hum Pathol 38: 679-687, 2007. (Pubitemid 46560810)
22. Rossi G, Valli R, Bertolini F, Marchioni A, Cavazza A, Mucciarini C, Migaldi M, Federico M, Trentini GP and Sgambato A: PDGFR expression in differential diagnosis between KIT-negative gastrointestinal stromal tumours and other primary soft-tissue tumours of the gastrointestinal tract. Histopathology 46: 522-531, 2005. (Pubitemid 40632309)
23. Lagonigro MS, Tamborini E, Negri T, Staurengo S, Dagrada GP, Miselli F, Gabanti E, Greco A, Casali PG, Carbone A, Pierotti MA and Pilotti S: PDGFRalpha, PDGFRbeta and KIT expression/activation in conventional chondrosarcoma. J Pathol 208: 615-623, 2006.
24. Pauls K, Merkelbach-Bruse S, Thal D, Büttner R and Wardelmann E: PDGFRalpha- and c-kit-mutated gastrointestinal stromal tumours (GISTs) are characterized by distinctive histological and immunohistochemical features. Histopathology 46: 166-175, 2005. (Pubitemid 40293015)
25. Peterson MR, Piao Z, Weidner N and Yi ES: Strong PDGFRA positivity is seen in GISTs but not in other intra-abdominal mesenchymal tumors: immunohistochemical and mutational analyses. Appl Immunohistochem Mol Morphol 14: 390-396, 2006. (Pubitemid 44813698)
26. Miselli F, Millefanti C, Conca E, Negri T, Piacenza C, Pierotti MA, Tamborini E and Pilotti S: PDGFRA immunostaining can help in the diagnosis of gastrointestinal stromal tumors. Am J Surg Pathol 32: 738-743, 2008. (Pubitemid 351600827)
27. Blay J-Y and Bonvalot S: Consensus meeting for the management of gastrointestinal stromal tumors. Ann Oncol 16: 566-578, 2005.
28. Fletcher CD, Berman JJ, Corless C, Gorstein F, Lasota J, Longley BJ, Miettinen M, O'Leary TJ, Remotti H, Rubin BP, Shmookler B, Sobin LH and Weiss SW: Diagnosis of gastrointestinal stromal tumors: a consensus approach. Hum Pathol 33: 459-465, 2002. (Pubitemid 34747864)
29. Lasota J, Wozniak A, Sarlomo-Rikala M, Rys J, Kordek R, Nassar A, Sobin LH and Miettinen M: Mutations in exons 9 and 13 of KIT gene are rare events in gastrointestinal stromal tumors. A study of 200 cases. Am J Pathol 157: 1091-1095, 2000.
30. Sakurai S, Hasegawa T, Sakuma Y, Takazawa Y, Motegi A, Nakajima T, Saito K, Fukayama M and Shimoda T: Myxoid epithelioid gastrointestinal stromal tumor (GIST) with mast cell infiltrations: a subtype of GIST with mutations of platelet-derived growth factor receptor alpha gene. Hum Pathol 35: 1223-1230, 2004. (Pubitemid 39361645)
31. Sihto H, Salormo-Rikala M, Tynninen O, Tanner M, Andersson LC, Franssila K, Nupponen NN and Joensuu H: 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. (Pubitemid 41702622)
32. Kaplan EL and Meier P: Non parametric estimation for incomplete observations. J Am Stat Assoc 53: 457-481, 1958.
33. Dixon WJ, Brown MG, Engelman L, Hill MA and Jennrich RI: BMPD Statistical Software Manual. University of California Press, Berkeley, 1990.