A Review of Advanced Genetic Testing for Clinical Prognostication in Uveal Melanoma

References

• Egan KM, Seddon JM, Glynn RJ, et al. Epidemiologic aspects of uveal melanoma. Surv Ophthalmol 1988;32(4):239–251
   PubMed Web of Science ®Google Scholar
• Singh AD, Turell ME, Topham AK. Uveal melanoma: Trends in incidence, treatment, and survival. Ophthalmol 2011;118(9):1881–1885
   PubMed Web of Science ®Google Scholar
• Chang AE, Karnell LH, Menck HR. The National Cancer Data Base report on cutaneous and noncutaneous melanoma: A summary of 84,836 cases from the past decade. The American College of Surgeons Commission on Cancer and the American Cancer Society. Cancer 1998;83(8):1664–1678
   PubMed Web of Science ®Google Scholar
• Onken MD, Ehlers JP, Worley LA, et al. Functional gene expression analysis uncovers phenotypic switch in aggressive uveal melanomas. Cancer Res 2006;66(9):4602–4609
   PubMed Web of Science ®Google Scholar
• Yucel YH, Johnston MG, Ly T, et al. Identification of lymphatics in the ciliary body of the human eye: A novel “uveolymphatic” outflow pathway. Exp Eye Res 2009;89(5):810–819
   PubMed Web of Science ®Google Scholar
• Van Ruymbeke K, Leys A. Malignant melanoma of skin and eye in the same family: More than a coincidence? Bulletin de la Societe Belge d'Ophtalmologie 1989;231:149–155
   PubMedGoogle Scholar
• Carbone M, Ferris LK, Baumann F, et al. BAP1 cancer syndrome: Malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs. J Transl Med 2012;10:179
   PubMed Web of Science ®Google Scholar
• Njauw CN, Kim I, Piris A, et al. Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. PloS One 2012;7(4):e35295
   PubMed Web of Science ®Google Scholar
• Abdel-Rahman MH, Pilarski R, Cebulla CM, et al. Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. J Med Genet 2011;48(12):856–859
   PubMed Web of Science ®Google Scholar
• Wiesner T, Obenauf AC, Murali R, et al. Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet 2011;43(10):1018–1021
   PubMed Web of Science ®Google Scholar
• Testa JR, Cheung M, Pei J, et al. Germline BAP1 mutations predispose to malignant mesothelioma. Nat Genet 2011;43(10):1022–1025
   PubMed Web of Science ®Google Scholar
• Diener-West M, Earle JD, Fine SL, et al. The COMS randomized trial of iodine 125 brachytherapy for choroidal melanoma, III: Initial mortality findings. COMS Report No. 18. Arch Ophthalmol 2001;119(7):969–982
   PubMedGoogle Scholar
• Lane AM, Kim IK, Gragoudas ES. Proton irradiation for peripapillary and parapapillary melanomas. Arch Ophthalmol 2011;129(9):1127–1130
   PubMedGoogle Scholar
• Shields CL, Shields JA, Perez N, et al. Primary transpupillary thermotherapy for small choroidal melanoma in 256 consecutive cases: Outcomes and limitations. Ophthalmology 2002;109(2):225–234
   PubMedGoogle Scholar
• Journee-de Korver HG, Schalij-Delfos NE, Imhof SM. Uveal malignant melanoma: Management options-thermotherapy. In: Clinical Ophthalmic Oncology. Singh AD, Damato BE, Pe'er J, et al., eds. Philadelphia, PA: Saunders Elsevier, 2007. pp 232–240
   Google Scholar
• Damato BE. Local resection of uveal melanoma. Bulletin de la Societe Belge d'Ophtalmologie 1993;248:11-17
   PubMedGoogle Scholar
• Jampol LM, Moy CS, Murray TG, et al. The COMS randomized trial of iodine 125 brachytherapy for choroidal melanoma: IV. Local treatment failure and enucleation in the first 5 years after brachytherapy. COMS report no. 19. Ophthalmology 2002;109(12):2197–2206
   PubMed Web of Science ®Google Scholar
• Singh AD, Topham A. Incidence of uveal melanoma in the United States: 1973-1997. Ophthalmology 2003;110(5):956-961
   PubMed Web of Science ®Google Scholar
• Singh AD, Topham A. Survival rates with uveal melanoma in the United States: 1973-1997. Ophthalmology 2003;110(5):962–965
   PubMed Web of Science ®Google Scholar
• Diener-West M, Reynolds SM, Agugliaro DJ, et al. Development of metastatic disease after enrollment in the COMS trials for treatment of choroidal melanoma: Collaborative Ocular Melanoma Study Group Report No. 26. Arch Ophthalmol 2005;123(12):1639–1643
   PubMed Web of Science ®Google Scholar
• Diener-West M, Hawkins BS, Markowitz JA, et al. A review of mortality from choroidal melanoma. II. A meta-analysis of 5-year mortality rates following enucleation, 1966 through 1988. Arch Ophthalmol 1992;110(2):245–250
   PubMedGoogle Scholar
• Kujala E, Makitie T, Kivela T. Very long-term prognosis of patients with malignant uveal melanoma. Invest Ophthalmol Vis Sci 2003;44(11):4651–4659
   PubMed Web of Science ®Google Scholar
• Eskelin S, Pyrhonen S, Summanen P, et al. Tumor doubling times in metastatic malignant melanoma of the uvea: Tumor progression before and after treatment. Ophthalmology 2000;107(8):1443–1449
   PubMed Web of Science ®Google Scholar
• Shields JA, Augsburger JJ, Donoso LA, et al. Hepatic metastasis and orbital recurrence of uveal melanoma after 42 years. Am J Ophthalmol 1985;100(5):666–668
   PubMed Web of Science ®Google Scholar
• Coupland SE, Sidiki S, Clark BJ, et al. Metastatic choroidal melanoma to the contralateral orbit 40 years after enucleation. Arch Ophthalmol 1996;114(6):751–756
   PubMedGoogle Scholar
• Midena E, de Belvis V, Dei Tos AP, et al. Isolated brain metastasis of malignant choroidal melanoma 27 years after enucleation. Arch Ophthalmol 1999;117(11):1553–1556
   PubMedGoogle Scholar
• Flocks M, Gerende JH, Zimmerman LE. The size and shape of malignant melanomas of the choroid and ciliary body in relation to prognosis and histologic characteristics: A statistical study of 210 tumors. Trans - Am Acad Ophthalmol Otolaryngol 1955;59(6):740–758
   PubMedGoogle Scholar
• Augsburger JJ, Gamel JW. Clinical prognostic factors in patients with posterior uveal malignant melanoma. Cancer 1990;66(7):1596–1600
   PubMedGoogle Scholar
• Shields CL, Ganguly A, Materin MA, et al. Chromosome 3 analysis of uveal melanoma using fine-needle aspiration biopsy at the time of plaque radiotherapy in 140 consecutive cases. Trans Am Ophthalmol Soc 2007;105:43–52 ; discussion-3
   PubMedGoogle Scholar
• Prescher G, Bornfeld N, Hirche H, et al. Prognostic implications of monosomy 3 in uveal melanoma. Lancet 1996;347(9010):1222–1225
   PubMed Web of Science ®Google Scholar
• Shields CL, Kaliki S, Furuta M, et al. Clinical spectrum and prognosis of uveal melanoma based on age at presentation in 8,033 cases. Retina 2012;32(7):1363–1372
   PubMed Web of Science ®Google Scholar
• Coupland SE, Campbell I, Damato B. Routes of extraocular extension of uveal melanoma: Risk factors and influence on survival probability. Ophthalmology 2008;115(10):1778–1785
   PubMed Web of Science ®Google Scholar
• McLean IW, Foster WD, Zimmerman LE, et al. Modifications of Callender's classification of uveal melanoma at the Armed Forces Institute of Pathology. Am J Ophthalmol 1983;96(4):502–509
   PubMedGoogle Scholar
• Seddon JM, Polivogianis L, Hsieh CC, et al. Death from uveal melanoma: Number of epithelioid cells and inverse SD of nucleolar area as prognostic factors. Arch Ophthalmol 1987;105(6):801–806
   PubMedGoogle Scholar
• Gamel JW, McLean IW, Foster WD, et al. Uveal melanomas: Correlation of cytologic features with prognosis. Cancer 1978;41(5):1897–1901
   PubMedGoogle Scholar
• Folberg R, Pe'er J, Gruman LM, et al. The morphologic characteristics of tumor blood vessels as a marker of tumor progression in primary human uveal melanoma: A matched case-control study. Hum Pathol 1992;23(11):1298–1305
   PubMedGoogle Scholar
• de la Cruz PO Jr, Specht CS, McLean IW. Lymphocytic infiltration in uveal malignant melanoma. Cancer 1990;65(1):112–115
   PubMed Web of Science ®Google Scholar
• Harbour JW, Onken MD, Roberson ED, et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 2010;330(6009):1410–1413
   PubMed Web of Science ®Google Scholar
• Onken MD, Worley LA, Long MD, et al. Oncogenic mutations in GNAQ occur early in uveal melanoma. Invest Ophthalmol Visual Sci 2008;49(12):5230–5234
   PubMed Web of Science ®Google Scholar
• Van Raamsdonk CD, Griewank KG, Crosby MB, et al. Mutations in GNA11 in uveal melanoma. N Engl J Med 2010;363(23):2191–2199
   PubMed Web of Science ®Google Scholar
• Ehlers JP, Harbour JW. NBS1 expression as a prognostic marker in uveal melanoma. Clin Cancer Res 2005;11(5):1849–1853
   PubMedGoogle Scholar
• Singh AD, Sisley K, Xu Y, et al. Reduced expression of autotaxin predicts survival in uveal melanoma. British J Ophthalmol 2007;91(10):1385–1392
   PubMedGoogle Scholar
• Chang SH, Worley LA, Onken MD, et al. Prognostic biomarkers in uveal melanoma: Evidence for a stem cell-like phenotype associated with metastasis. Melanoma Res 2008;18(3):191–200
   PubMed Web of Science ®Google Scholar
• Brantley MA, Jr Harbour JW. Deregulation of the Rb and p53 pathways in uveal melanoma. Am J Pathol 2000;157(6):1795–1801
   PubMedGoogle Scholar
• Chana JS, Wilson GD, Cree IA, et al. c-myc, p53, and Bcl-2 expression and clinical outcome in uveal melanoma. British J Ophthalmol 1999;83(1):110–114
   PubMed Web of Science ®Google Scholar
• Saraiva VS, Caissie AL, Segal L, et al. Immunohistochemical expression of phospho-Akt in uveal melanoma. Melanoma Res 2005;15(4):245–250
   PubMed Web of Science ®Google Scholar
• Weber A, Hengge UR, Urbanik D, et al. Absence of mutations of the BRAF gene and constitutive activation of extracellular-regulated kinase in malignant melanomas of the uvea. Lab Invest: A J Tech Methods Pathol 2003;83(12):1771–1776
   PubMed Web of Science ®Google Scholar
• Zuidervaart W, van Nieuwpoort F, Stark M, et al. Activation of the MAPK pathway is a common event in uveal melanomas although it rarely occurs through mutation of BRAF or RAS. British J Cancer 2005;92(11):2032–2038
   PubMed Web of Science ®Google Scholar
• Papadopoulos S, Benter T, Anastassiou G, et al. Assessment of genomic instability in breast cancer and uveal melanoma by random amplified polymorphic DNA analysis. Int J Cancer, J Int du Cancer 2002;99(2):193–200
   PubMedGoogle Scholar
• Cross NA, Murray AK, Rennie IG, et al. Instability of microsatellites is an infrequent event in uveal melanoma. Melanoma Res 2003;13(5):435–440
   PubMedGoogle Scholar
• Coleman K, Baak JP, van Diest PJ, et al. DNA ploidy status in 84 ocular melanomas: A study of DNA quantitation in ocular melanomas by flow cytometry and automatic and interactive static image analysis. Hum Pathol 1995;26(1):99–105
   PubMedGoogle Scholar
• Scholes AG, Damato BE, Nunn J, et al. Monosomy 3 in uveal melanoma: Correlation with clinical and histologic predictors of survival. Invest Ophthalmol Vis Sci 2003;44(3):1008–1011
   PubMed Web of Science ®Google Scholar
• Sisley K, Rennie IG, Parsons MA, et al. Abnormalities of chromosomes 3 and 8 in posterior uveal melanoma correlate with prognosis. Genes, Chromosomes Cancer 1997;19(1):22–28
   PubMed Web of Science ®Google Scholar
• Damato B, Dopierala J, Klaasen A, et al. Multiplex ligation-dependent probe amplification of uveal melanoma: Correlation with metastatic death. Invest Ophthalmol Visual Sci 2009;50(7):3048–3055
   PubMed Web of Science ®Google Scholar
• Kilic E, Naus NC, van Gils W, et al. Concurrent loss of chromosome arm 1p and chromosome 3 predicts a decreased disease-free survival in uveal melanoma patients. Invest Ophthalmol Visual Sci 2005;46(7):2253–2257
   PubMed Web of Science ®Google Scholar
• Hausler T, Stang A, Anastassiou G, et al. Loss of heterozygosity of 1p in uveal melanomas with monosomy 3. Int J Cancer, J Int du Cancer 2005;116(6):909–913
   PubMedGoogle Scholar
• White VA, Chambers JD, Courtright PD, et al. Correlation of cytogenetic abnormalities with the outcome of patients with uveal melanoma. Cancer 1998;83(2):354–359
   PubMed Web of Science ®Google Scholar
• Hoglund M, Gisselsson D, Hansen GB, et al. Dissecting karyotypic patterns in malignant melanomas: Temporal clustering of losses and gains in melanoma karyotypic evolution. Int J Cancer, J Int du Cancer 2004;108(1):57–65
   PubMedGoogle Scholar
• Tschentscher F, Prescher G, Horsman DE, et al. Partial deletions of the long and short arm of chromosome 3 point to two tumor suppressor genes in uveal melanoma. Cancer Res 2001;61(8):3439–3442
   PubMedGoogle Scholar
• Damato B, Dopierala JA, Coupland SE. Genotypic profiling of 452 choroidal melanomas with multiplex ligation-dependent probe amplification. Clin Cancer Res: An Official J Am Assoc Cancer Res 2010;16(24):6083–6092
   PubMed Web of Science ®Google Scholar
• White VA, McNeil BK, Thiberville L, et al. Acquired homozygosity (isodisomy) of chromosome 3 during clonal evolution of a uveal melanoma: Association with morphologic heterogeneity. Genes, Chromosomes Cancer 1996;15(2):138–143
   PubMedGoogle Scholar
• Onken MD, Worley LA, Person E, et al. Loss of heterozygosity of chromosome 3 detected with single nucleotide polymorphisms is superior to monosomy 3 for predicting metastasis in uveal melanoma. Clin Cancer Research: An Official J Am Assoc Cancer Res 2007;13(10):2923–2927
   PubMed Web of Science ®Google Scholar
• Becher R, Korn WM, Prescher G. Use of fluorescence in situ hybridization and comparative genomic hybridization in the cytogenetic analysis of testicular germ cell tumors and uveal melanomas. Cancer Genet Cytogenetics 1997;93(1):22–28
   PubMedGoogle Scholar
• Prescher G, Bornfeld N, Friedrichs W, et al. Cytogenetics of twelve cases of uveal melanoma and patterns of nonrandom anomalies and isochromosome formation. Cancer Genet Cytogenet 1995;80(1):40–46
   PubMedGoogle Scholar
• Speicher MR, Prescher G, du Manoir S, et al. Chromosomal gains and losses in uveal melanomas detected by comparative genomic hybridization. Cancer Res 1994;54(14):3817–3823
   PubMedGoogle Scholar
• Parrella P, Caballero OL, Sidransky D, et al. Detection of c-myc amplification in uveal melanoma by fluorescent in situ hybridization. Invest Ophthalmol Vis Sci 2001;42(8):1679–1684
   PubMed Web of Science ®Google Scholar
• Ehlers JP, Worley L, Onken MD, et al. DDEF1 is located in an amplified region of chromosome 8q and is overexpressed in uveal melanoma. Clin Cancer Res 2005;11(10):3609–3613
   PubMedGoogle Scholar
• 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(12):3737–3745
   PubMed Web of Science ®Google Scholar
• Kilic E, Bruggenwirth HT, Meier M, et al. Increased expression of p73Deltaex2 transcript in uveal melanoma with loss of chromosome 1p. Melanoma Res 2008;18(3):208–213
   PubMedGoogle Scholar
• Ehlers JP, Worley L, Onken MD, et al. Integrative genomic analysis of aneuploidy in uveal melanoma. Clin Cancer Res 2008;14(1):115–122
   PubMedGoogle Scholar
• Parrella P, Sidransky D, Merbs SL. Allelotype of posterior uveal melanoma: Implications for a bifurcated tumor progression pathway. Cancer Res 1999;59(13):3032–3037
   PubMedGoogle Scholar
• Tschentscher F, Husing J, Holter T, et al. Tumor classification based on gene expression profiling shows that uveal melanomas with and without monosomy 3 represent two distinct entities. Cancer Research 2003;63(10):2578–2584
   PubMed Web of Science ®Google Scholar
• Onken MD, Worley LA, Ehlers JP, et al. Gene expression profiling in uveal melanoma reveals two molecular classes and predicts metastatic death. Cancer Res 2004;64(20):7205–7209
   PubMed Web of Science ®Google Scholar
• Onken MD, Worley LA, Tuscan MD, et al. An accurate, clinically feasible multi-gene expression assay for predicting metastasis in uveal melanoma. J Mol Diagn 2010;12(4):461–468
   PubMed Web of Science ®Google Scholar
• Jakobiec FA, Coleman DJ, Chattock A, et al. Ultrasonically guided needle biopsy and cytologic diagnosis of solid intraocular tumors. Ophthalmol 1979;86(9):1662–1681
   PubMedGoogle Scholar
• Aronow M, Sun Y, Saunthararajah Y, et al. Monosomy 3 by FISH in uveal melanoma: Variability in techniques and results. Surv Ophthalmol 2012;57(5):463–473
   PubMedGoogle Scholar
• Maat W, Jordanova ES, van Zelderen-Bhola SL, et al. The heterogeneous distribution of monosomy 3 in uveal melanomas: implications for prognostication based on fine-needle aspiration biopsies. Arch Pathol Lab Med 2007;131(1):91–96
   PubMedGoogle Scholar
• Schoenfield L, Pettay J, Tubbs RR, et al. Variation of monosomy 3 status within uveal melanoma. Arch Pathol Lab Med 2009;133(8):1219–1222
   PubMedGoogle Scholar
• Dopierala J, Damato BE, Lake SL, et al. Genetic heterogeneity in uveal melanoma assessed by multiplex ligation-dependent probe amplification. Invest Ophthalmol Vis Sci 2010;51(10):4898–4905
   PubMed Web of Science ®Google Scholar
• Cook JR. Fluorescence in situ hybridization. In: Cell and Tissue Based Molecular Pathology. Tubbs RR, Stoler MH, eds. Vol. 1; Philadelphia, PA: Churchill Livingstone, 2009
   Google Scholar
• Damato B, Duke C, Coupland SE, et al. Cytogenetics of uveal melanoma: A 7-year clinical experience. Ophthalmol 2007;114(10):1925–1931
   PubMed Web of Science ®Google Scholar
• McNamara M, Felix C, Davison EV, et al. Assessment of chromosome 3 copy number in ocular melanoma using fluorescence in situ hybridization. Cancer Genet Cytogenet 1997;98(1):4–8
   PubMedGoogle Scholar
• Midena E, Bonaldi L, Parrozzani R, et al. In vivo monosomy 3 detection of posterior uveal melanoma: 3-year follow-up. Graefe's Arch Clin Exp Ophthalmol: Albrecht von Graefes Archiv fur Klinische und Experimentelle Ophthalmol 2008;246(4):609–614
   PubMedGoogle Scholar
• Snijders AM, Nowak N, Segraves R, et al. Assembly of microarrays for genome-wide measurement of DNA copy number. Nature Genet 2001;29(3):263–264
   PubMed Web of Science ®Google Scholar
• Worley LA, Onken MD, Person E, et al. Transcriptomic versus chromosomal prognostic markers and clinical outcome in uveal melanoma. Clin Cancer Res: An Official J Am Assoc Cancer Res 2007;13(5):1466–1471
   PubMedGoogle Scholar
• Tschentscher F, Prescher G, Zeschnigk M, et al. Identification of chromosomes 3, 6, and 8 aberrations in uveal melanoma by microsatellite analysis in comparison to comparative genomic hybridization. Cancer Genet Cytogenet 2000;122(1):13–17
   PubMedGoogle Scholar
• Thomas S, Putter C, Weber S, et al. Prognostic significance of chromosome 3 alterations determined by microsatellite analysis in uveal melanoma: A long-term follow-up study. British J Cancer 2012;106(6):1171–1176
   PubMed Web of Science ®Google Scholar
• Hoque MO, Lee CC, Cairns P, et al. Genome-wide genetic characterization of bladder cancer: A comparison of high-density single-nucleotide polymorphism arrays and PCR-based microsatellite analysis. Cancer Res 2003;63(9):2216–2222
   PubMedGoogle Scholar
• Tai AL, Mak W, Ng PK, et al. High-throughput loss-of-heterozygosity study of chromosome 3p in lung cancer using single-nucleotide polymorphism markers. Cancer Res 2006;66(8):4133–4138
   PubMedGoogle Scholar
• Coupland SE, Lake SL, Zeschnigk M, et al. Molecular pathology of uveal melanoma. Eye 2013;27(2):230–242
   PubMed Web of Science ®Google Scholar
• Onken MD, Worley LA, Davila RM, et al. Prognostic testing in uveal melanoma by transcriptomic profiling of fine needle biopsy specimens. J Mol Diagn 2006;8(5):567–573
   PubMedGoogle Scholar
• Petrausch U, Martus P, Tonnies H, et al. Significance of gene expression analysis in uveal melanoma in comparison to standard risk factors for risk assessment of subsequent metastases. Eye 2008;22(8):997–1007
   PubMedGoogle Scholar
• van Gils W, Lodder EM, Mensink HW, et al. Gene expression profiling in uveal melanoma: Two regions on 3p related to prognosis. Invest Ophthalmol Visual Sci 2008;49(10):4254–4262
   PubMedGoogle Scholar
• Cook SA, Damato B, Marshall E, et al. Psychological aspects of cytogenetic testing of uveal melanoma: Preliminary findings and directions for future research. Eye 2009;23(3):581–585
   PubMedGoogle Scholar