Mutual exclusivity analysis of genetic and epigenetic drivers in melanoma identifies a link between p14ARF and RARb signaling

Molecular Cancer Research

Volumn 11, Issue 10, 2013, Pages 1166-1178

  Dahl, Christina ^a   Christensen, Claus ^a   Jonsson, Goran ^b   Lorentzen, Anders ^a,d   Skjødt, Mette Louise ^a,e   Borg, Åke ^b   Pawelec, Graham ^c   Guldberg, Per ^a  

^a DANISH CANCER SOCIETY RESEARCH CENTER   (Denmark)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d ROSKILDE UNIVERSITY   (Denmark)

^e NOVO NORDISK A S   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE 4; CYCLIN DEPENDENT KINASE INHIBITOR 2A; MITOGEN ACTIVATED PROTEIN KINASE; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN KINASE B; RAF PROTEIN; RAS PROTEIN; RETINOBLASTOMA PROTEIN; RETINOIC ACID; RETINOIC ACID RECEPTOR BETA; RETINOIC ACID RECEPTOR;

ARTICLE; CELL AGING; CELL CYCLE ARREST; CHROMOSOME ABERRATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA METHYLATION; EPIGENETICS; GENE MUTATION; HUMAN; HUMAN CELL; MELANOCYTE; MELANOMA; MELANOMA CELL; MOLECULAR INTERACTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN FUNCTION; SIGNAL TRANSDUCTION; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENETIC EPIGENESIS; GENETICS; METABOLISM; PATHOLOGY; TUMOR CELL LINE;

CELL LINE, TUMOR; EPIGENESIS, GENETIC; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; MELANOMA; RECEPTORS, RETINOIC ACID; SIGNAL TRANSDUCTION; TRETINOIN; TUMOR SUPPRESSOR PROTEIN P14ARF;

EID: 84886376886     PISSN: 15417786     EISSN: 15573125     Source Type: Journal    
DOI: 10.1158/1541-7786.MCR-13-0006     Document Type: Article

References (52)

1. Tsao H, Atkins MB, Sober AJ. Management of cutaneous melanoma. N Engl J Med 2004;351:998-1012.
2. Flaherty KT, Hodi FS, Fisher DE. From genes to drugs: targeted strategies for melanoma. Nat Rev Cancer 2012;12:349-61.
3. Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, et al. Mutationsof theBRAFgene inhuman cancer. Nature2002;417:949-54.
4. Hingorani SR, Jacobetz MA, Robertson GP, Herlyn M, Tuveson DA. Suppression of BRAF(V599E) in human melanoma abrogates transformation. Cancer Res 2003;63:5198-202.
5. Christensen C, Guldberg P. Growth factors rescue cutaneous melanoma cells from apoptosis induced by knock-down of mutated (V600E) B-RAF. Oncogene 2005;24:6292-302.
6. Dahl C, Guldberg P. The genome and epigenome of malignant melanoma. APMIS 2007;115:1160-75.
7. Wei X, Walia V, Lin JC, Teer JK, Prickett TD, Gartner J, et al. Exome sequencing identifies GRIN2A as frequently mutated in melanoma. Nat Genet 2011;43:442-6.
8. Stark MS, Woods SL, Gartside MG, Bonazzi VF, Dutton-Regester K, Aoude LG, et al. Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing. Nat Genet 2012;44:165-9.
9. Nikolaev SI, Rimoldi D, Iseli C, Valsesia A, Robyr D, Gehrig C, et al. Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. Nat Genet 2012;44:133-9.
10. Berger MF, Hodis E, Heffernan TP, Deribe YL, Lawrence MS, Protopopov A, et al. Melanoma genome sequencing reveals frequent PREX2 mutations. Nature 2012;485:502-6.
11. Krauthammer M, Kong Y, Ha BH, Evans P, Bacchiocchi A, McCusker JP, et al. Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. Nat Genet 2012;44:1006-14.
12. Hodis E, Watson IR, Kryukov GV, Arold ST, Imielinski M, Theurillat JP, et al. A landscape of driver mutations in melanoma. Cell 2012;150: 251-63.
13. Curtin JA, Fridlyand J, Kageshita T, Patel HN, Busam KJ, Kutzner H, et al. Distinct sets of genetic alterations in melanoma. N Engl J Med 2005;353:2135-47.
14. Stark M, Hayward N. Genome-wide loss of heterozygosity and copy number analysis in melanoma using high-density single-nucleotide polymorphism arrays. Cancer Res 2007;67:2632-42.
15. Jonsson G, Dahl C, Staaf J, Sandberg T, Bendahl PO, Ringner M, et al. Genomic profiling of malignant melanoma using tiling-resolution array CGH. Oncogene 2007;26:4738-48.
16. Koga Y, Pelizzola M, Cheng E, Krauthammer M, Sznol M, Ariyan S, et al. Genome-wide screen of promoter methylation identifies novel markers in melanoma. Genome Res 2009;19:1462-70.
17. Vogelstein B, Kinzler KW. Cancer genes and the pathways they control. Nat Med 2004;10:789-99.
18. Tsao H, Zhang X, Fowlkes K, Haluska FG. Relative reciprocity of NRAS and PTEN/MMAC1 alterations in cutaneous melanoma cell lines. Cancer Res 2000;60:1800-4.
19. Bartkova J, Lukas J, Guldberg P, Alsner J, Kirkin AF, Zeuthen J, et al. The p16-cyclin D/Cdk4-pRB pathway as a functional unit frequently altered in melanoma pathogenesis. Cancer Res 1996;56:5475-83.
20. Robinson J, Roberts CH, Dodi IA, Madrigal JA, Pawelec G, Wedel L, et al. The European Searchable Tumour Line Database. Cancer Immunol Immunother 2009;58:1501-6.
21. Borg A, Sandberg T, Nilsson K, Johannsson O, Klinker M, Masback A, et al. High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. J Natl Cancer Inst 2000;92:1260-6.
22. Lade-Keller J, Romer KM, Guldberg P, Riber-Hansen R, Hansen LL, Steiniche T, et al. Evaluation of BRAF mutation testing methodologies in formalin-fixed, paraffin-embedded cutaneous melanomas. J Mol Diagn 2013;15:70-80.
23. Grønbæk K, de Nully Brown P, Møller MB, Nedergaard T, Ralfkiaer E, Møller P, et al. Concurrent disruption of p16INK4a and the ARF-p53 pathway predicts poor prognosis in aggressive non-Hodgkin,s lymphoma. Leukemia 2000;14:1727-35.
24. Guldberg P, thor Straten P, Birck A, Ahrenkiel V, Kirkin AF, Zeuthen J. Disruption of the MMAC1/PTEN gene by deletion or mutation is a frequent event in malignant melanoma. Cancer Res 1997;57:3660-3.
25. Clark SJ, Harrison J, Paul CL, Frommer M. High sensitivity mapping of methylated cytosines. Nucleic Acids Res 1994;22:2990-7.
26. Worm J, Aggerholm A, Guldberg P. In-tube DNA methylation profiling by fluorescence melting curve analysis. Clin Chem 2001;47:1183-9.
27. Van Raamsdonk CD, Bezrookove V, Green G, Bauer J, Gaugler L, O'Brien JM, et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature 2009;457:599-602.
28. Fligiel SE, Inman DR, Talwar HS, Fisher GJ, Voorhees JJ, Varani J. Modulation of growth in normal and malignant melanocytic cells by alltrans retinoic acid. J Cutan Pathol 1992;19:27-33.
29. Fan J, Eastham L, Varney ME, Hall A, Adkins NL, Chetel L, et al. Silencing and re-expression of retinoic acid receptor beta2 in human melanoma. Pigment Cell Melanoma Res 2010;23:419-29.
30. Faria TN, Mendelsohn C, Chambon P, Gudas LJ. The targeted disruption of both alleles of RARbeta(2) in F9 cells results in the loss of retinoic acid-associated growth arrest. J Biol Chem 1999;274:26783-8.
31. de The H, Vivanco-Ruiz MM, Tiollais P, Stunnenberg H, Dejean A. Identification of a retinoic acid responsive element in the retinoic acid receptor beta gene. Nature 1990;343:177-80.
32. Li Y, Hashimoto Y, Agadir A, Kagechika H, Zhang X. Identification of a novel class of retinoic acid receptor beta-selective retinoid antagonists and their inhibitory effects on AP-1 activity and retinoic acid-induced apoptosis in human breast cancer cells. J Biol Chem 1999;274:15360-6.
33. Michaloglou C, Vredeveld LC, Soengas MS, Denoyelle C, Kuilman T, van der Horst CM, et al. BRAFE600-associated senescence-like cell cycle arrest of human naevi. Nature 2005;436:720-4.
34. Kim WY, Sharpless NE. The regulation of INK4/ARF in cancer and aging. Cell 2006;127:265-75.
35. Niles RM. The use of retinoids in the prevention and treatment of skin cancer. Expert Opin Pharmacother 2002;3:299-303.
36. Jones S, Chen WD, Parmigiani G, Diehl F, Beerenwinkel N, Antal T, et al. Comparative lesion sequencing provides insights into tumor evolution. Proc Natl Acad Sci U S A 2008;105:4283-8.
37. Daniotti M, Oggionni M, Ranzani T, Vallacchi V, Campi V, Di SD, et al. BRAF alterations are associated with complex mutational profiles in malignant melanoma. Oncogene 2004;23:5968-77.
38. Yang G, Rajadurai A, Tsao H. Recurrent patterns of dual RB and p53 pathway inactivation in melanoma. J Invest Dermatol 2005;125: 1242-51.
39. Vredeveld LC, Possik PA, Smit MA, Meissl K, Michaloglou C, Horlings HM, et al. Abrogation of BRAFV600E-induced senescence by PI3K pathway activation contributes to melanomagenesis. Genes Dev 2012;26:1055-69.
40. Ha L, Ichikawa T, Anver M, Dickins R, Lowe S, Sharpless NE, et al. ARF functions as a melanoma tumor suppressor by inducing p53-independent senescence. Proc Natl Acad Sci U S A 2007;104:10968-73.
41. Haferkamp S, Scurr LL, Becker TM, Frausto M, Kefford RF, Rizos H. Oncogene-induced senescence does not require the p16(INK4a) or p14ARF melanoma tumor suppressors. J Invest Dermatol 2009;129: 1983-91.
42. Duell EA, Kang S, Voorhees JJ. Retinoic acid isomers applied to human skin in vivo each induce a 4-hydroxylase that inactivates only trans retinoic acid. J Invest Dermatol 1996;106:316-20.
43. Tang XH, Gudas LJ. Retinoids, retinoic acid receptors, and cancer. Annu Rev Pathol 2011;6:345-64.
44. Inoue Y, Hasegawa S, Yamada T, Date Y, Mizutani H, Nakata S, et al. Bimodal effect of retinoic acid on melanocyte differentiation identified by time-dependent analysis. Pigment Cell Melanoma Res 2012;25: 299-311.
45. Sviderskaya EV, Gray-Schopfer VC, Hill SP, Smit NP, Evans-Whipp TJ, Bond J, et al. p16/cyclin-dependent kinase inhibitor 2A deficiency in human melanocyte senescence, apoptosis, and immortalization: possible implications for melanoma progression. J Natl Cancer Inst 2003;95:723-32.
46. Dhomen N, Reis-Filho JS, da Rocha DS, Hayward R, Savage K, Delmas V, et al. Oncogenic Braf induces melanocyte senescence and melanoma in mice. Cancer Cell 2009;15:294-303.
47. Solimini NL, Luo J, Elledge SJ. Non-oncogene addiction and the stress phenotype of cancer cells. Cell 2007;130:986-8.
48. Halpern AC, Schuchter LM, Elder DE, Guerry D, Elenitsas R, Trock B, et al. Effects of topical tretinoin on dysplastic nevi. J Clin Oncol 1994;12:1028-35.
49. Levine N, Meyskens FL. Topical vitamin-A-acid therapy for cutaneous metastatic melanoma. Lancet 1980;2:224-6.
50. Goodman GE. Phase II trial of retinol in patients with advanced cancer. Cancer Treat Rep 1986;70:1023-4.
51. Meyskens FL Jr, Liu PY, Tuthill RJ, Sondak VK, Fletcher WS, Jewell WR, et al. Randomized trial of vitamin A versus observation as adjuvant therapy in high-risk primary malignant melanoma: a Southwest Oncology Group study. J Clin Oncol 1994;12:2060-5.
52. Richtig E, Soyer HP, Posch M, Mossbacher U, Bauer P, Teban L, et al. Prospective, randomized, multicenter, double-blind placebo-controlled trial comparing adjuvant interferon alfa and isotretinoin with interferon alfa alone in stage IIA and IIB melanoma: European Cooperative Adjuvant Melanoma Treatment Study Group. J Clin Oncol 2005;23:8655-63.