A molecular portrait of gastrointestinal stromal tumors: An integrative analysis of gene expression profiling and high-resolution genomic copy number

Laboratory Investigation

Volumn 90, Issue 9, 2010, Pages 1285-1294

  Astolfi, Annalisa ^a   Nannini, Margherita ^b   Pantaleo, Maria Abbondanza ^a,b   Di Battista, Monica ^b   Heinrich, Michael C ^c   Santini, Donatella ^b   Catena, Fausto ^b   Corless, Christopher L ^d   Maleddu, Alessandra ^b   Saponara, Maristella ^b   Lolli, Cristian ^b   Di Scioscio, Valerio ^a   Formica, Serena ^a   Biasco, Guido ^a,b  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

K RAS PROTEIN; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; SMALL INTERFERING RNA; DAAM1 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ACTIVATOR OF HEAT SHOCK 90 PROTEIN ATPASE HOMOLOGUE 1 GENE; ADULT; AGED; ARTICLE; CHROMOSOME 12P; CHROMOSOME 14Q; CHROMOSOME 1P; CHROMOSOME 22P; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CLINICAL ARTICLE; CYTOGENETICS; DAPPER ANTAGONIST OF BETA CATENIN HOMOLOGUE 1 GENE; DOWN REGULATION; FEMALE; FORKHEAD BOX N3 GENE; GASTROINTESTINAL STROMAL TUMOR; GENE DOSAGE; GENE EXPRESSION; GENE EXPRESSION PROFILING; HUMAN; HUMAN TISSUE; KIF1B GENE; MALE; NF2 GENE; ONCOGENE; PRIORITY JOURNAL; PROTEIN PHOSPHATASE 1A ALPHA GENE; RETICULON 1 GENE; SEROLOGICALLY DEFINED COLON CANCER ANTIGEN 1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SNW DOMAIN CONTAINING 1 GENE; TUMOR SUPPRESSOR GENE; WILD TYPE; CHROMOSOME 22; GENETICS; GENOME; GENOTYPE; METABOLISM; MICROARRAY ANALYSIS; MUTATION; ONCOGENE RAS; PATHOLOGY; PROCEDURES;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 22; GASTROINTESTINAL STROMAL TUMORS; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENES, RAS; GENOME; GENOTYPE; HUMANS; MICROARRAY ANALYSIS; MUTATION; ONCOGENES; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR ALPHA;

EID: 77956258069     PISSN: 00236837     EISSN: 15300307     Source Type: Journal    
DOI: 10.1038/labinvest.2010.110     Document Type: Article

References (35)

1. 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. (Pubitemid 28067289)
2. Heinrich MC, Corless CL, Duensing A, et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science 2003;299: 708-710.
3. Medeiros F, Corless CL, Duensing A, et al. KIT-negative gastrointestinal stromal tumors. Am J Surg Pathol 2004;28:889-894.
4. 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.
5. Debiec-Rychter M, Dumez H, Judson I, et al. Use of c-KIT/PDGFRA mutational analysis to predict the clinical response to imatinib in patients with advanced gastrointestinal stromal tumors entered on phase I and II studies of the EORTC Soft Tissue and Bone Sarcoma Group. Eur J Cancer 2004;40:689-695.
6. Maleddu A, Pantaleo MA, Nannini M, et al. Mechanisms of secondary resistance to tyrosine kinase inhibitors in gastrointestinal stromal tumors (Review). Oncol Rep 2009;21:1359-1366.
7. Yang J, Du X, Lazar AJ, et al. Genetic aberrations of gastrointestinal stromal tumors. Cancer 2008;113:1532-1543.
8. Gunawan B, von Heydebreck A, Sander B, et al. An oncogenetic tree model in gastrointestinal stromal tumours (GISTs) identifies different pathways of cytogenetic evolution with prognostic implications. J Pathol 2007;211:463-470.
9. Assamaki R, Sarlomo-Rikala M, Lopez-Guerrero JA, et al. Array comparative genomic hybridization analysis of chromosomal imbalances and their target genes in gastrointestinal stromal tumors. Genes Chromosomes Cancer 2007;46:564-576.
10. Wozniak A, Sciot R, Guillou L, et al. Array CGH analysis in primary gastrointestinal stromal tumors: cytogenetic profile correlates with anatomic site and tumor aggressiveness, irrespective of mutational status. Genes Chromosomes Cancer 2007;46:261-276.
11. Chen Y, Tzeng CC, Liou CP, et al. Biological significance of chromosomal imbalance aberrations in gastrointestinal stromal tumors. J Biomed Sci 2004;11:65-71.
12. Breiner JA, Meis-Kindblom J, Kindblom LG, et al. Loss of 14q and 22q in gastrointestinal stromal tumors (pacemaker cell tumors). Cancer Genet Cytogenet 2000;120:111-116.
13. Debiec-Rychter M, Sciot R, Pauwels P, et al. Molecular cytogenetic definition of three distinct chromosome arm 14q deletion intervals in gastrointestinal stromal tumors. Genes Chromosomes Cancer 2001; 32:26-32.
14. Derre J, Lagach R, Terier P, et al. Consistent loss on the short arm of chromosome 1 in a series of malignant gastrointestinal stromal tumors. Cancer Genet Cytogenet 2001;127:30-33.
15. El-Rifai W, Sarlomo-Rikala M, Andersson LC, et al. DNA sequence copy number changes in gastrointestinal stromal tumors: tumor progression and prognostic significance. Cancer Res 2000;60:3899-3903.
16. El-Rifai W, Sarlomo-Rikala M, Andersson LC, et al. High resolution deletion mapping of chromosome 14 in stromal tumors of the gastrointestinal tract suggests two distinct tumor suppressor loci. Genes Chromosomes Cancer 2000;27:387-391.
17. El-Rifai W, Sarlomo-Rikala M, Miettinen M, et al. DNA copy number losses in chromosome 14: an early change in gastrointestinal stromal tumors. Cancer Res 1996;56:3230-3233.
18. Chen Y, Liou CP, Tseng HH, et al. Deletions of chromosome 1p and 15q are associated with aggressiveness of gastrointestinal stromal tumors. J Formos Med Assoc 2009;108:28-37.
19. Lasota J, Wozniak A, Kopczynski J, et al. Loss of heterozygosity on chromosome 22q in gastrointestinal stromal tumors (GISTs): a study on 50 cases. Lab Invest 2005;85:237-247.
20. Kim NG, Kim JJ, Ahn JY, et al. Putative chromosomal deletions on 9p, 9q and 22q occur preferentially in malignant gastrointestinal stromal tumors. Int J Cancer 2000;85:633-638.
21. Tibshirani R, Wang P. Spatial smoothing and hot spot detection for CGH data using the fused lasso. Biostatistics 2008;9:18-29.
22. Smyth GK. Linear models and empirical Bayes methods for assessing differential expression in microarray experiments. Stat Appl Genet Mol Biol 2004;3 Article 3.
23. Di Sano F, Fazi B, Tufi R, et al. Reticulon-1C acts as a molecular switch between endoplasmic reticulum stress and genotoxic cell death pathway in human neuroblastoma cells. J Neurochem 2007; 102:345-353.
24. Fazi B, Melino S, De Rubeis S, et al. Acetylation of RTN-1C regulates the induction of ER stress by the inhibition of HDAC activity in neuroectodermal tumors. Oncogene 2009;28:3814-3824.
25. Schneider-Stock R, Boltze C, Lasota J, et al. Loss of p16 protein defines high-risk patients with gastrointestinal stromal tumors: a tissue microarray study. Clin Cancer Res 2005;11:638-645.
26. Sabah M, Cummins R, Leader M, et al. Altered expression of cell cycle regulatory proteins in gastrointestinal stromal tumors: markers with potential prognostic implications. Hum Pathol 2006;37:648-655.
27. Schmieder M, Wolf S, Danner B, et al. p16 expression differentiates high-risk gastrointestinal stromal tumor and predicts poor outcome. Neoplasia 2008;10:1154-1162.
28. Belinsky MG, Skorobogatko YV, Rink L, et al. High density DNA array analysis reveals distinct genomic profiles in a subset of gastrointestinal stromal tumors. Genes Chromosomes Cancer 2009;48:886-896.
29. Pantaleo MA, Astolfi A, Di Battista M, et al. Insulin-like growth factor 1 receptor expression in wild-type GISTs: a potential novel therapeutic target. Int J Cancer 2009;125:2991-2994.
30. Prakash S, Sarran L, Socci N, et al. Gastrointestinal stromal tumors in children and young adults: a clinicopathologic, molecular, and genomic study of 15 cases and review of the literature. J Pediatr Hematol Oncol 2005;27:179-187.
31. Braconi C, Bracci R, Bearzi I, etal. Insulin-like growth factor (IGF) 1 and 2 help to predict disease outcome in GIST patients. Ann Oncol 2008;19:1293-1298.
32. Belinsky MG, Rink L, Cai KQ, et al. The insulin-like growth factor system as a potential therapeutic target in gastrointestinal stromal tumors. Cell Cycle 2008;7:2949-2955.
33. Tarn C, Rink L, Merkel E, et al. Insulin-like growth factor 1 receptor is a potential therapeutic target for gastrointestinal stromal tumors. Proc Natl Acad Sci USA 2008;105:8387-8392.
34. Gao X, Wen J, Zhang L, et al. Dapper1 is a nucleocytoplasmic shuttling protein that negatively modulates Wnt signaling in the nucleus. J Biol Chem 2008;283:35679-35688.
35. Ilyas M. Wnt signalling and the mechanistic basis of tumour development. J Pathol 2005;205:130-144.