The FGFR4-G388R single-nucleotide polymorphism alters pancreatic neuroendocrine tumor progression and response to mTOR inhibition therapy

Cancer Research

Volumn 72, Issue 22, 2012, Pages 5683-5691

  Serra, Stefano ^a   Zheng, Lei ^a,b   Hassan, Manal ^d   Phan, Alexandria T ^d   Woodhouse, Linda J ^c   Yao, James C ^d   Ezzat, Shereen ^a,b   Asa, Sylvia L ^a,b  

^a UNIVERSITY HEALTH NETWORK   (Canada)

^b PRINCESS MARGARET HOSPITAL   (Canada)

^c UNIVERSITY OF ALBERTA   (Canada)

^d UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; EVEROLIMUS; FIBROBLAST GROWTH FACTOR RECEPTOR 4; GLYCINE; MAMMALIAN TARGET OF RAPAMYCIN; NERVE CELL ADHESION MOLECULE;

ADULT; ADVANCED CANCER; AGED; AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CANCER CHEMOTHERAPY; CANCER GRADING; CANCER GROWTH; CANCER INVASION; CANCER PROGNOSIS; CANCER RISK; CANCER STAGING; CLINICAL EFFECTIVENESS; CODON; CONTROLLED STUDY; DRUG EFFECT; DRUG EFFICACY; DRUG RESPONSE; FEMALE; FIBROBLAST GROWTH FACTOR RECEPTOR 4 GENE; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION; GENOTYPE; HIGH RISK PATIENT; HUMAN; HUMAN CELL; HUMAN TISSUE; LIVER METASTASIS; MAJOR CLINICAL STUDY; MALE; MOUSE; NONHUMAN; PANCREATIC NEUROENDOCRINE TUMOR; PREDICTIVE VALUE; PRIORITY JOURNAL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT DURATION; TUMOR GENE; TUMOR XENOGRAFT;

ADULT; AGED; AGED, 80 AND OVER; ANIMALS; ANTINEOPLASTIC AGENTS; CARCINOMA, NEUROENDOCRINE; CELL GROWTH PROCESSES; CELL LINE, TUMOR; DISEASE PROGRESSION; FEMALE; HUMANS; MALE; MICE; MICE, SCID; MIDDLE AGED; PANCREATIC NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 4; SIROLIMUS; TOR SERINE-THREONINE KINASES; XENOGRAFT MODEL ANTITUMOR ASSAYS; YOUNG ADULT;

EID: 84869209181     PISSN: 00085472     EISSN: 15387445     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-12-2102     Document Type: Article

References (26)

1. Yan G, Wang F, Fukabori Y, Sussman D, Hou J, McKeehan WL. Expression and transformation of a variant of the heparin-binding fibroblast growth factor receptor (flg) gene resulting from splicing of the exon at alternate 30 -acceptor site. Biochem Biophys Res Commun 1992;183:423-430.
2. Ornitz DM, Zu J, Colvin JS, McEwenDG, MacArthur CA, Coulier F, et al. Receptor specificity of the fibroblast growth factor family. J Biol Chem 1996;271:15292-7.
3. Givol D, Yayon A. Complexity of FGF receptors: genetic basis for structural diversity and functional specificity. FASEB J 1992;6:3362-9.
4. Passos-Bueno MR, Wilcox WR, Jabs EW, Sertie AL, Alonso LG, Kitoh H. Clinical spectrum of fibroblast growth factor receptor mutations. Hum Mutat 1999;14:115-25.
5. Xiao S, Nalabolu SR, Aster JC, Ma J, Abruzzo L, Jaffe ES, et al. FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/ lymphoma syndrome. Nat Genet 1998;18:84-7.
6. Taylor JG, Cheuk AT, Tsang PS, Chung JY, Song YK, Desai K, et al. Identification of FGFR4-activating mutations in human rhabdomyosarcomas that promote metastasis in xenotransplanted models. J Clin Invest 2009;119:3395-407.
7. Eswarakumar VP, Lax I, Schlessinger J. Cellular signaling by fibroblast growth factor receptors. Cytokine Growth Factor Rev 2005;16:139-49.
8. Jaakkola S, Salmikangas P, Nylund S, Partanen J, Armstrong E, Pyrhonen S, et al. Amplification of FGFR4 gene in human breast and gynecological cancers. Int J Cancer 1993;54:378-82.
9. Bange J, Prechtl D, Cheburkin Y, Specht K, Harbeck N, Schmitt M, et al. Cancer progression and tumor cell motility are associated with the FGFR4 Arg(388) allele. Cancer Res 2002;62:840-7.
10. Morimoto Y, Ozaki T, Ouchida M, Umehara N, Ohata N, Yoshida A, et al. Single nucleotide polymorphism in fibroblast growth factor receptor 4 at codon 388 is associated with prognosis in high-grade soft tissue sarcoma. Cancer 2003;98:2245-50.
11. Wang J, Stockton DW, Ittmann M. The fibroblast growth factor receptor- 4 Arg388 allele is associated with prostate cancer initiation and progression. Clin Cancer Res 2004;10:6169-78.
12. Falvella FS, Frullanti E, Galvan A, Spinola M, Noci S, De Cecco L, et al. FGFR4 Gly388Arg polymorphism may affect the clinical stage of patients with lung cancer by modulating the transcriptional profile of normal lung. Int J Cancer 2009;124:2880-5.
13. Sasaki H, Okuda K, Kawano O, Yukiue H, Yano M, Fujii Y. Fibroblast growth factor receptor 4 mutation and polymorphism in Japanese lung cancer. Oncol Rep 2008;20:1125-30.
14. da Costa Andrade V, Parise O Jr, Hors CP, de Melo Martins PC, Silva AP, Garicochea B. The fibroblast growth factor receptor 4 (FGFR4) Arg388 allele correlates with survival in head and neck squamous cell carcinoma. Exp Mol Pathol 2007;82:53-57.
15. Thussbas C, Nahrig J, Streit S, Bange J, Kriner M, Kates R, et al. FGFR4 Arg388 allele is associated with resistance to adjuvant therapy in primary breast cancer. J Clin Oncol 2006;24:3747-55.
16. Seitzer N, Mayr T, Streit S, Ullrich A. A single nucleotide change in the mouse genome accelerates breast cancer progression. Cancer Res 2010;70:802-12.
17. Cavallaro U, Niedermeyer J, Fuxa M, Christofori G. N-CAM modulates tumour-cell adhesion to matrix by inducing FGF-receptor signalling. Nat Cell Biol 2001;3:650-7.
18. Ezzat S, Zheng L, Asa SL. Pituitary tumor-derived fibroblast growth factor receptor 4 isoform disrupts neural cell-adhesion molecule/N-cadherin signaling to diminish cell adhesiveness: a mechanism underlying pituitary neoplasia. Mol Endocrinol 2004;18:2543-52.
19. Klimstra DS, Arnold R, Capella C, Hruban RH, Kloppel G, Komminoth P, et al. Neuroendocrine neoplasms of the pancreas. In:Bosman FT, Carneiro F, Hruban RH, Theise ND, editors. WHO classification of tumours of the digestive system. Lyon: IARC Press; 2010.p. 322-326.
20. Yao JC, Phan AT, Chang DZ, Wolff RA, Hess K, Gupta S, et al. Efficacy of RAD001 (everolimus) and octreotide LAR in advanced low- to intermediate-grade neuroendocrine tumors: results of a phase II study. J Clin Oncol 2008;26:4311-8.
21. Yao JC, Shah MH, Ito T, Bohas CL, Wolin EM, Van Cutsem E, et al. Everolimus for advanced pancreatic neuroendocrine tumors. N Engl J Med 2011;64:514-23.
22. Ng PC, Henikoff S. Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet 2006;7:1-80.
23. Bromberg Y, Rost B. Correlating protein function and stability through the analysis of single amino acid substitutions. BMC Bioinformatics 2009;10(Suppl 8):S8.
24. Wang Z, Moult J. SNPs, protein structure, and disease. Hum Mutat 2001;17:263-70.
25. Tateno T, Asa SL, Zheng L, Mayr T, Ullrich A, Ezzat S. The FGFR4- G388R polymorphism promotes mitochondrial STAT3 serine phosphorylation to facilitate pituitary growth hormone cell tumorigenesis. PLoS Genet 2011;7:e1002400.
26. Pavel ME, Hainsworth J D, Baudin E, Peeters M, Horsch D, Winkler RE, et al. Everolimus plus octreotide long-acting repeatable for the treatment of advanced neuroendocrine tumours associated with carcinoid syndrome (RADIANT-2): a randomised, placebo-controlled, phase 3 study. Lancet 2011;378:2005-12.