Molecular characterization of an Italian series of sporadic GISTs

Gastric Cancer

Volumn 16, Issue 4, 2013, Pages 596-601

  Origone, P ^a   Gargiulo, S ^a   Mastracci, L ^b   Ballestrero, A ^a   Battistuzzi, L ^c   Casella, C ^b   Comandini, D ^b   Cusano, R ^a   Dei Tos, A P ^d   Fiocca, R ^b   Garuti, A ^a   Ghiorzo, P ^a,b   Martinuzzi, C ^a   Toffolatti, L ^d   Bianchi Scarra G ^a,b  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d Treviso General Hospital   (Italy)

Author keywords

BRAF; GIST; KIT; KRAS; PDGFRA

Indexed keywords

B RAF KINASE; K RAS PROTEIN; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; PROTEIN TYROSINE KINASE;

ADULT; AGED; ARTICLE; BASAL CELL CARCINOMA; BLADDER CANCER; CECUM CANCER; COLON CANCER; CONTROLLED STUDY; DISEASE ASSOCIATION; ESOPHAGUS CANCER; EXON; FEMALE; FRAMESHIFT MUTATION; GASTROINTESTINAL STROMAL TUMOR; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MOLECULAR DYNAMICS; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NONHODGKIN LYMPHOMA; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROSTATE CANCER;

ADULT; AGED; AGED, 80 AND OVER; ANTINEOPLASTIC AGENTS; BENZAMIDES; FEMALE; FOLLOW-UP STUDIES; GASTROINTESTINAL STROMAL TUMORS; HUMANS; MALE; MIDDLE AGED; MUTATION; PIPERAZINES; POLYMERASE CHAIN REACTION; PROGNOSIS; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; PROTO-ONCOGENE PROTEINS C-KIT; PYRIMIDINES; RAS PROTEINS; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR ALPHA; RETROSPECTIVE STUDIES; TUMOR MARKERS, BIOLOGICAL;

EID: 84885956416     PISSN: 14363291     EISSN: 14363305     Source Type: Journal    
DOI: 10.1007/s10120-012-0213-y     Document Type: Article

References (22)

1. Parfitt JR, Streutker CJ, Riddell RH, Driman DK. Gastrointestinal stromal tumors: a contemporary review. Pathol Res Pract. 2006;202:837-47.
2. Wardelman E, Pauls K, Mekelbach-Bruse S, Hrychyk A, Losen I, Hohenberger P, et al. Gastrointestinal stromal tumors carrying PDGFR alpha mutations occur preferentially in the stomach and exhibit an epithelioid or mixed phenotype. Verh Dtsch Ges Pathol. 2004;88:174-83.
3. Agaimy A, Terracciano LM, Dirnhofer S. V600E BRAF mutations are alternative early molecular events in a subset of KIT/PDGFRA wild-type gastrointestinal stromal tumours. J Clin Pathol. 2009;62:613-6.
4. Hostein I, Faur N, Primois C, Boury F, Denard J, Emile JF, et al. BRAF mutation status in gastrointestinal stromal tumors. Am J Clin Pathol. 2010;133:141-8.
5. Blanke CD, Demetri GD, von Mehren M, Heinrich MC, Eisenberg B, Fletcher JA, et al. Long-term results from a randomized phase II trial of standard- versus higher-dose imatinib mesylate for patients with unresectable or metastatic gastrointestinal stromal tumors expressing KIT. J Clin Oncol Off J Am Soc Clin Oncol. 2008;26:620-5.
6. 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.
7. Joensuu H, De Matteo RP. The management of gastrointestinal stromal tumors: a model for targeted and multidisciplinary therapy of malignancy. Annu Rev Med. 2012;63:247-58.
8. Antonescu CR. The GIST paradigm: lessons for other kinase-driven cancers. J Pathol. 2011;223(2):251-61.
9. Miranda C, Nucifora M, Molinari F, Conca E, Anania MC, Bordoni A, et al. KRAS and BRAF mutations predict primary resistance to imatinib in gastrointestinal stromal tumors. Clin Cancer Res. 2012;18(6):1769-76.
10. Hostein I, Debiec-Rychter M, Olschwang S, Bringuier PP, Toffolati L, Gonzalez D, et al. A quality control program for mutation detection in KIT and PDGFRA in gastrointestinal stromal tumours. J Gastroenterol. 2011;46:586-94.
11. 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.
12. Steigen SE, Eide TJ, Wasag B, Lasota J, Miettinen M. Mutations in gastrointestinal stromal tumors: a population-based study from Northern Norway. APMIS. 2007;115:289-98.
13. Bachet JB, Hostein I, Le Cesne A, Brahimi S, Beauchet A, Tabone-Eglinger S, et al. Prognosis and predictive value of KIT exon 11 deletion in GISTs. Br J Cancer. 2009;101:7-11.
14. Kotogianni-Katsarou K, Dimitriadis E, Lariou C, Kairi-Vassilatou E, Pandis N, 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. 2008;14:1891-7.
15. Vila L, Liu H, Al-Quran SZ, Coco DP, Dong HJ, Liu C. Identification of c-kit gene mutations in primary adenoid cystic carcinoma of the salivary gland. Mod Pathol. 2009;22:1296-302.
16. Ezoe K, Holmes SA, Ho L, Bennett CP, Bolognia JL, Brueton L, et al. Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. Am J Hum Genet. 1995;56:58-66.
17. Kuwahara Y, Hirata A, Miwa H, Munakata S, Ueda S, Kanakura Y, et al. Epstein-Barr virus associated B-cell lymphoma of brain developing in myelodysplastic syndrome with c-kit mutation (Try-557 → stop). Am J Hematol. 2000;65:234-8.
18. Antonescu CR, Besmer P, Guo T, Arkun K, Hom G, Koryotowski B, et al. Acquired resistance to imatinib in gastrointestinal stromal tumor occurs through secondary gene mutation. Clin Cancer Res. 2005;11:4182-90.
19. Corless CL, Barnett CM, Heinrich MC. Gastrointestinal stromal tumours: origin and molecular oncology. Nat Rev Cancer. 2011;11:865-78.
20. 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;125:660-7.
21. Demetri GD. Targeting the molecular pathophysiology of gastrointestinal stromal tumors with imatinib. Mechanisms, successes, and challenges to rational drug development. Hematol Oncol Clin N Am. 2002;16:1115-24.
22. Adim SB, Filiz G, Kanat O, Yerci O. Simultaneous occurrence of synchronous and metachronous tumors with gastrointestinal stromal tumors. Bratisl Lek Listy. 2011;112:623-5.