Genetic determinants of uveal melanoma

Developments in Ophthalmology

Volumn 49, Issue , 2012, Pages 150-165

  Couturier, Jérôme ^a   Saule, Simon ^a  

^a INSTITUT CURIE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TUMOR MARKER;

ARTICLE; BIOSYNTHESIS; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; HUMAN; MELANOMA; METABOLISM; UVEA MELANOMA; UVEA TUMOR;

DNA, NEOPLASM; GENE EXPRESSION REGULATION, NEOPLASTIC; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MELANOMA; TUMOR MARKERS, BIOLOGICAL; UVEAL NEOPLASMS;

EID: 84925969726     PISSN: 02503751     EISSN: 16622790     Source Type: Book Series    
DOI: 10.1159/000328270     Document Type: Article

References (81)

1. Damato B: Does ocular treatment of uveal melanoma influence survival? Br J Cancer 2010;103:285-290.
2. Kilic E, van Gils W, Lodder E, Beverloo HB, van Til ME, Mooy CM, Paridaens D, de Klein A, Luyten GP: Clinical and cytogenetic analyses in uveal melanoma. Invest Ophthalmol Vis Sci 2006;47:3703-3707.
3. Landreville S, Agapova OA, Harbour JW: Emerging insights into the molecular pathogenesis of uveal melanoma. Future Oncol 2008;4:629-636.
4. Harbour JW: Molecular prognostic testing and individualized patient care in uveal melanoma. Am J Ophthalmol 2009;148:823-829.
5. Singh AD, Wang MX, Donoso LA, Shields CL, De Potter P, Shields JA: Genetic aspects of uveal melanoma: A brief review. Semin Oncol 1996;23:768-772.
6. Abdel-Rahman MH, Pilarski R, Ezzat S, Sexton J, Davidorf FH: Cancer family history characterization in an unselected cohort of 121 patients with uveal melanoma. Fam Cancer 2010;9:431-438.
7. Kannengiesser C, Avril MF, Spatz A, Laud K, Lenoir GM, Bressac-de-Paillerets B: CDKN2A as a uveal and cutaneous melanoma susceptibility gene. Genes Chromosomes Cancer 2003;38:265-268.
8. Hearle N, Damato BE, Humphreys J, Wixey J, Green H, Stone J, Easton DF, Houlston RS: Contribution of germline mutations in BRCA2, P16(INK4A), P14(ARF) and P15 to uveal melanoma. Invest Ophthalmol Vis Sci 2003;44:458-462.
9. Easton DF, Steele L, Fields P, Ormiston W, Averill D, Daly PA, McManus R, Neuhausen SL, Ford D, Wooster R, Cannon-Albright LA, Stratton MR, Goldgar DE: Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Genet 1997;61:120-128.
10. Iscovich J, Abdulrazik M, Cour C, Fischbein A, Pe'er J, Goldgar DE: Prevalence of the BRCA2 6174 del T mutation in Israeli uveal melanoma patients. Int J Cancer 2002;98:42-44.
11. Buecher B, Gauthier-Villars M, Desjardins L, Lumbroso-Le Rouic L, Levy C, De Pauw A, Bombled J, Tirapo C, Houdayer C, Bressac-de Paillerets B, Stoppa-Lyonnet D: Contribution of CDKN2A/P16 (INK4A), P14 (ARF), CDK4 and BRCA1/2 germline mutations in individuals with suspected genetic predisposition to uveal melanoma. Fam Cancer 2010;9:663-667.
12. Mudhar HS, Parsons MA, Sisley K, Rundle P, Singh A, Rennie IG: A critical appraisal of the prognostic and predictive factors for uveal malignant melanoma. Histopathology 2004;45:1-12.
13. Mensink HW, Vaarwater J, Kili E, Naus NC, Mooy N, Luyten G, Brgenwirth HT, Paridaens D, de Klein A: Chromosome 3 intratumor heterogeneity in uveal melanoma. Invest Ophthalmol Vis Sci 2009; 50:500-504.
14. Onken MD, Worley LA, Tuscan MD, Harbour JW: An accurate, clinically feasible multi-gene expression assay for predicting metastasis in uveal melanoma. J Mol Diagn 2010;12:461-468.
15. Bronkhorst IHG, Maat W, Jordanova ES, Kroes WGM, Schalij-Delfos NE, Luyten GPM, Jager MJ: Effect of heterogeneous distribution of monosomy 3 on prognosis in Uveal Melanoma. Arch Pathol Lab Med, in press.
16. Onken MD, Worley LA, Person E, Char DH, Bowcock AM, Harbour JW: Loss of heterozygosity of chromosome 3 detected with single nucleotide polymorphisms is superior to monosomy 3 for predicting metastasis in uveal melanoma. Clin Cancer Res 2007;13:2923-2927.
17. Damato B, Dopierala J, Klaasen A, van Dijk M, Sibbring J, Coupland SE: Multiplex ligationdependent probe amplification of uveal melanoma: Correlation with metastatic death. Invest Ophthalmol Vis Sci 2009;50:3048-3055.
18. Young TA, Burgess BL, Rao NP, Gorin MB, Straatsma BR: High-density genome array is superior to fluorescence in-situ hybridization analysis of monosomy 3 in choroidal melanoma fine needle aspiration biopsy. Mol Vis 2007;13:2328-2333.
19. McCannel TA, Burgess BL, Rao NP, Nelson SF, Straatsma BR: Identification of candidate tumor oncogenes by integrative molecular analysis of choroidal melanoma fine-needle aspiration biopsy specimens. Arch Ophthalmol 2010;128:1170-1177.
20. Hughes S, Damato BE, Giddings I, Hiscott PS, Humphreys J, Houlston RS: Microarray comparative genomic hybridisation analysis of intraocular uveal melanomas identifies distinctive imbalances associated with loss of chromosome 3. Br J Cancer 2005;93:1191-1196.
21. Ehlers JP, Worley L, Onken MD, Harbour JW: Integrative genomic analysis of aneuploidy in uveal melanoma. Clin Cancer Res 2008;14:115-122.
22. Trolet J, Hup P, Huon I, Lebigot I, Decraene C, Delattre O, Sastre-Garau X, Saule S, Thiéy JP, Plancher C, Asselain B, Desjardins L, Mariani P, Piperno-Neumann S, Barillot E, Couturier J: Genomic profiling and identification of high-risk uveal melanoma by array CGH analysis of primary tumors and liver metastases. Invest Ophthalmol Vis Sci 2009;50:2572-2580.
23. Onken MD, Worley LA, Ehlers JP, Harbour JW: Gene expression profiling in uveal melanoma reveals two molecular classes and predicts metastatic death. Cancer Res 2004;64:7205-7209.
24. Parrella P, Sidransky D, Merbs SL: Allelotype of posterior uveal melanoma: Implications for a bifurcated tumor progression pathway. Cancer Res 1999;59: 3032-3037.
25. Hölund M, Gisselsson D, Hansen GB, White VA, Säll T, Mitelman F, Horsman D: Dissecting karyotypic patterns in malignant melanomas: Temporal clustering of losses and gains in melanoma karyotypic evolution. Int J Cancer 2004;108:57-65.
26. Tschentscher F, Prescher G, Horsman DE, White VA, Rieder H, Anastassiou G, Schilling H, Bornfeld N, Bartz-Schmidt KU, Horsthemke B, Lohmann DR, Zeschnigk M: Partial deletions of the long and short arm of chromosome 3 point to two tumor suppressor genes in uveal melanoma. Cancer Res 2001;61:3439-3442.
27. Parrella P, Fazio VM, Gallo AP, Sidransky D, Merbs SL: Fine mapping of chromosome 3 in uveal melanoma: Identification of a minimal region of deletion on chromosomal arm 3p25.1-p25.2. Cancer Res 2003;63:8507-8510.
28. Cross NA, Ganesh A, Parpia M, Murray AK, Rennie IG, Sisley K: Multiple locations on chromosome 3 are the targets of specific deletions in uveal melanoma. Eye (Lond) 2006;20:476-481.
29. Ehlers JP, Worley L, Onken MD, Harbour JW: DDEF1 is located in an amplified region of chromosome 8q and is overexpressed in uveal melanoma. Clin Cancer Res 2005;11:3609-3613.
30. Onken MD, Worley LA, Harbour JW: A metastasis modifier locus on human chromosome 8p in uveal melanoma identified by integrative genomic analysis. Clin Cancer Res 2008;14:3737-3745.
31. Bennett DC: How to make a melanoma: What do we know of the primary clonal events? Pigment Cell Melanoma Res 2008;21:27-38.
32. Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W, Davis N, Dicks E, Ewing R, Floyd Y, Gray K, Hall S, Hawes R, Hughes J, Kosmidou V, Menzies A, Mould C, Parker A, Stevens C, Watt S, Hooper S, Wilson R, Jayatilake H, Gusterson BA, Cooper C, Shipley J, Hargrave D, Pritchard-Jones K, Maitland N, Chenevix-Trench G, Riggins GJ, Bigner DD, Palmieri G, Cossu A, Flanagan A, Nicholson A, Ho JW, Leung SY, Yuen ST, Weber BL, Seigler HF, Darrow TL, Paterson H, Marais R, Marshall CJ, Wooster R, Stratton MR, Futreal PA: Mutations of the BRAF gene in human cancer. Nature 2002;417: 949-954.
33. Maat W, Kilic E, Luyten GP, de Klein A, Jager MJ, Gruis NA, Van der Velden PA: Pyrophosphorolysis detects B-RAF mutations in primary uveal melanoma. Invest Ophthalmol Vis Sci 2008;49:23-27.
34. Onken MD, Worley LA, Long MD, Duan S, Council ML, Bowcock AM, Harbour JW: Oncogenic mutations in GNAQ occur early in uveal melanoma. Invest Ophthalmol Vis Sci 2008;49:5230-5234.
35. Bauer J, Kilic E, Vaarwater J, Bastian BC, Garbe C, de Klein A: Oncogenic GNAQ mutations are not correlated with disease-free survival in uveal melanoma. Br J Cancer 2009;101:813-815.
36. Harbour JW, Onken MD, Roberson ED, Duan S, Cao L, Worley LA, Council ML, Matatall KA, Helms C, Bowcock AM: Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 2010;330: 1410-1413.
37. Tschentscher F, Husing J, Holter T, Kruse E, Dresen IG, Jökel KH, Anastassiou G, Schilling H, Bornfeld N, Horsthemke B, Lohmann DR, Zeschnigk M: Tumor classification based on gene expression profiling shows that uveal melanomas with and without monosomy 3 represent two distinct entities. Cancer Res 2003;63:2578-2584.
38. Worley LA, Onken MD, Person E, Robirds D, Branson J, Char DH, Perry A, Harbour JW: Transcriptomic versus chromosomal prognostic markers and clinical outcome in uveal melanoma. Clin Cancer Res 2007;13:1466-1471.
39. Onken MD, Ehlers JP, Worley LA, Makita J, Yokota Y, Harbour JW: Functional gene expression analysis uncovers phenotypic switch in aggressive uveal melanomas. Cancer Res 2006;66:4602-4609.
40. Onken MD, Lin AY, Worley LA, Folberg R, Harbour JW: Association between microarray gene expression signature and extravascular matrix patterns in primary uveal melanomas. Am J Ophthalmol 2005; 140:748-749.
41. Petrausch U, Martus P, Tonnies H, Bechrakis NE, Lenze D, Wansel S, Hummel M, Bornfeld N, Thiel E, Foerster MH, Keilholz U: Significance of gene expression analysis in uveal melanoma in comparison to standard risk factors for risk assessment of subsequent metastases. Eye 2008;22:997-1007.
42. Laurent C, Valet F, Planque N, Silveri L, Maacha S, Anezo O, Hup P, Plancher C, Reyes C, Albaud B, Rapinat A, Gentien D, Couturier J, Sastre-Garau X, Desjardins L, Thiery JP, Roman-Roman S, Asselain B, Barillot E, Piperno-Neumann S, Saule S: High PTP4a3 phosphatase expression correlates with metastatic risk in uveal melanoma patients. Cancer Res 2011;71:666-674.
43. Matter WF, Estridge T, Zhang C, Belagaje R, Stancato L, Dixon J, Johnson B, Bloem L, Pickard T, Donaghue M, Acton S, Jeyaseelan R, Kadambi V, Vlahos CJ: Role of PRL-3, a human muscle-specific tyrosine phosphatase, in angiotensin-II signaling. Biochem Biophys Res Commun 2001;283:1061-1068.
44. Stephens BJ, Han H, Gokhale V, Von Hoff DD: PRL phosphatases as potential molecular targets in cancer. Mol Cancer Ther 2005;4:1653-1661.
45. Wang H, Vardy LA, Tan CP, Loo JM, Guo K, Li J, Lim SG, Zhou J, Chng WJ, Ng SB, Li HX, Zeng Q: PCBP1 suppresses the translation of metastasisassociated PRL-3 phosphatase. Cancer Cell 2010;18: 52-62.
46. Wu X, Zeng H, Zhang X, Zhao Y, Sha H, Ge X, Zhang M, Gao X, Xu Q: Phosphatase of regenerating liver-3 promotes motility and metastasis of mouse melanoma cells. Am J Pathol 2004;164:2039-2054.
47. Wang H, Quah YS, Dong JM, Manser E, Tang JP, Zeng Q: PRL-3 down-regulates PTEN expression and signals through PI3K to promote epithelialmesenchymal transition. Cancer Res 2007;67:2922-2926.
48. Liang F, Liang J, Wang WQ, Sun JP, Udho E, Zhang ZY: PRL3 promotes cell invasion and proliferation by down-regulation of Csk leading to Src activation. J Biol Chem 2007;282:5413-5419.
49. Saha S, Bardelli A, Buckhaults P, Velculescu VE, Rago C, St Croix B, Romans KE, Choti MA, Lengauer C, Kinzler KW, Vogelstein B: A phosphatase associated with metastasis of colorectal cancer. Science 2001;294:1343-1346.
50. Miskad UA, Semba S, Kato H, Yokozaki H: Expression of PRL-3 phosphatase in human gastric carcinomas: Close correlation with invasion and metastasis. Pathobiology 2004;71:176-184.
51. Parsons JT, Martin KH, Slack JK, Taylor JM, Weed SA: Focal adhesion kinase: A regulator of focal adhesion dynamics and cell movement. Oncogene 2000; 19:5606-5613.
52. Li Z, Zhan W, Wang Z, Zhu B, He Y, Peng J, Cai S, Ma J: Inhibition of PRL-3 gene expression in gastric cancer cell line SGC7901 via microRNA suppressed reduces peritoneal metastasis. Biochem Biophys Res Commun 2006;348:229-237.
53. Lee SB, Schramme A, Doberstein K, Dummer R, Abdel-Bakky MS, Keller S, Altevogt P, Oh ST, Reichrath J, Oxmann D, Pfeilschifter J, Mihic-Probst D, Gutwein P: ADAM10 is upregulated in melanoma metastasis compared with primary melanoma. J Invest Dermatol 2010;130:763-773.
54. Roy R, Wewer UM, Zurakowski D, Pories SE, Moses MA: ADAM 12 cleaves extracellular matrix proteins and correlates with cancer status and stage. J Biol Chem 2004;279:51323-51330.
55. Jalava SE, Porkka KP, Rauhala HE, Isotalo J, Tammela TL, Visakorpi T: TCEB1 promotes invasion of prostate cancer cells. Int J Cancer 2009;124: 95-102.
56. Cockman ME, Masson N, Mole DR, Jaakkola P, Chang GW, Clifford SC, Maher ER, Pugh CW, Ratcliffe PJ, Maxwell PH: Hypoxia inducible factoralpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein. J Biol Chem 2000; 275:25733-25741.
57. Busc R, Berra E, Gaggioli C, Khaled M, Bille K, Marchetti B, Thyss R, Fitsialos G, Larrib̀e L, Bertolotto C, Virolle T, Barbry P, Pouysséur J, Ponzio G, Ballotti R: Hypoxia-inducible factor 1alpha is a new target of microphthalmia-associated transcription factor (MITF) in melanoma cells. J Cell Biol 2005;170:49-59.
58. Liang F, Luo Y, Dong Y, Walls CD, Liang J, Jiang HY, Sanford JR, Wek RC, Zhang ZY: Translational control of C-terminal Src kinase (Csk) expression by PRL3 phosphatase. Biol Chem 2008;283:10339-10346.
59. Lorsch JR, Dever TE: Molecular view of 43 S complex formation and start site selection in eukaryotic translation initiation. J Biol Chem 2010;285:21203-21207.
60. Cole PA, Shen K, Qiao Y, Wang D: Protein tyrosine kinases Src and Csk: A tail's tale. Curr Opin Chem Biol 2003;7:580-585.
61. Xu W, Harrison SC, Eck MJ: Three-dimensional structure of the tyrosine kinase c-Src. Nature 1997; 385:595-602.
62. Liang F, Liang J, Wang W-Q, Sun J-P, Udho E, Zhang Z-Y: PRL3 promotes cell invasion and proliferation by down-regulation of Csk leading to Src activation. J Biol Chem 2007;282:5413-5419.
63. Chaudhary A, Brugge JS, Cooper JA: Direct phosphorylation of focal adhesion kinase by c-Src: Evidence using a modified nucleotide pocket kinase and ATP analog. Biochem Biophys Res Commun 2002;294:293-300.
64. Yeatman TJ: A renaissance for SRC. Nat Rev Cancer 2004;4:470-480
65. Maat W, el Filali M, Dirks-Mulder A, Luyten GP, Gruis NA, Desjardins L, Boender P, Jager MJ, van der Velden PA: Episodic Src activation in uveal melanoma revealed by kinase activity profiling. Br J Cancer 2009;101:312-319.
66. Steingrimsson E, Copeland NG, Jenkins NA: Melanocytes and the microphthalmia transcription factor network. Annu Rev Genet 2004;38:365-411.
67. Cheli Y, Ohanna M, Ballotti R, Bertolotto C: 15-year quest in search for MITF target genes. Pigment Cell Melanoma Res 2010;23:27-40.
68. Giuliano S, Cheli Y, Ohanna M, Bonet C, Beuret L, Bille K, Loubat A, Hofman V, Hofman P, Ponzio G, Bahadoran P, Ballotti R, Bertolotto C: Microphthalmia-associated transcription factor controls the DNA damage response and a lineagespecific senescence program in melanomas. Cancer Res 2010;70:3813-3822.
69. Garraway LA, Widlund HR, Rubin MA, Getz G, Berger AJ, Ramaswamy S, Beroukhim R, Milner DA, Granter SR, Du J, Lee C, Wagner SN, Li C, Golub TR, Rimm DL, Meyerson ML, Fisher DE, Sellers WR: Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma. Nature 2005;436:117-122.
70. Carreira S, Goodall J, Denat L, Rodriguez M, Nuciforo P, Hoek KS, Testori A, Larue L, Goding CR: Mitf regulation of Dia1 controls melanoma proliferation and invasiveness. Genes Dev 2006;20: 3426-3439.
71. Stadler BM, Ruohola-Baker H: Small RNAs: Keeping stem cells in line. Cell 2008;132:563-566.
72. Stefani G, Slack FJ: Small non-coding RNAs in animal development. Nat Rev Mol Cell Biol 2008;9:219-230.
73. Ma L, Teruya-Feldstein J, Weinberg RA: Tumour invasion and metastasis initiated by microRNA-10b in breast cancer. Nature 2007;449:682-688.
74. Bemis LT, Chen R, Amato CM, Classen EH, Robinson SE, Coffey DG, Erickson PF, Shellman YG, Robinson WA: MicroRNA-137 targets microphthalmia-associated transcription factor in melanoma cell lines. Cancer Res 2008;68:1362-1368.
75. Worley LA, Long MD, Onken MD, Harbour JW: Micro-RNAs associated with metastasis in uveal melanoma identified by multiplexed microarray profiling. Melanoma Res 2008;18:184-190.
76. Singh A, Settleman J: EMT, cancer stem cells and drug resistance: An emerging axis of evil in the war on cancer. Oncogene 2010;29:4741-4751.
77. Thiery JP, Acloque H, Huang RY, Nieto MA: Epithelial-mesenchymal transitions in development and disease. Cell 2009;139:871-890.
78. Perk J, Iavarone A, Benezra R: Id family of helixloop-helix proteins in cancer. Nat Rev Cancer 2005; 5:603-614.
79. Martinsen BJ, Bronner-Fraser M: Neural crest specification regulated by the helix-loop-helix repressor Id2. Science 1998;281:988-991.
80. Li F, Tiede B, Massague J, Kang Y: Beyond tumorigenesis: Cancer stem cells in metastasis. Cell Res 2007;17:3-14.
81. Chang SH, Worley LA, Onken MD, Harbour JW: Prognostic biomarkers in uveal melanoma: Evidence for a stem cell-like phenotype associated with metastasis. Melanoma Res 2008;18:191-200.