Progress in diagnosis and treatment of uveal melanoma_West China Medical Journal

Authors：

XIANG Zhongzheng ,  LIU Lei

Department of Head and Neck Oncology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China;

Corresponding author：

LIU Lei, Email: liuleihx@gmail.com

Keywords：

Uveal melanoma; Gene; Therapy; Prognosis

DOI：

10.7507/1002-0179.201810077

Video：

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Abstract Full text Figures/Tables Video References Cited by

Uveal melanoma is the most common primary intraocular malignancy in adults. Although it is relatively rare, it is extremely malignant, with poor treatment effect. The current treatment for primary lesions can achieve ideal local control, but there are still nearly half of the patients with distant metastasis. This article reviews the epidemiology, genetic status, diagnosis, treatment and prognosis of uveal melanoma in combination with recent advances in diagnostic and therapeutic techniques.

Citation： XIANG Zhongzheng, LIU Lei. Progress in diagnosis and treatment of uveal melanoma. West China Medical Journal, 2018, 33(11): 1433-1440. doi: 10.7507/1002-0179.201810077 Copy

1.	Mclaughlin CC, Wu XC, Jemal A, et al. Incidence of noncutaneous melanomas in the U. S. Cancer, 2005, 103(5): 1000-1007.
2.	Singh AD, Topham A. Incidence of uveal melanoma in the United States: 1973-1997. Ophthalmology, 2003, 110(5): 956-961.
3.	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.
4.	Shields CL, Furuta M, Thangappan A, et al. Metastasis of uveal melanoma millimeter-by-millimeter in 8033 consecutive eyes. Arch Ophthalmol, 2009, 127(8): 989-998.
5.	Liu YM, Li Y, Wei WB, et al. Clinical characteristics of 582 patients with uveal melanoma in China. PLoS One, 2015, 10(12): e0144562.
6.	Cerbone L, Van Ginderdeuren R, Van den Oord JA, et al. Clinical presentation, pathological features and natural course of metastatic uveal melanoma, an orphan and commonly fatal disease. Oncology, 2014, 86(3): 185-189.
7.	Virgili G, Gatta G, Ciccolallo L, et al. Survival in patients with uveal melanoma in Europe. Arch Ophthalmol, 2008, 126(10): 1413-1418.
8.	Kujala E, Mäkitie T, Kivelä T. Very long-term prognosis of patients with malignant uveal melanoma. Invest Ophthalmol Vis Sci, 2003, 44(11): 4651-4659.
9.	Rietschel P, Panageas KS, Hanlon C, et al. Variates of survival in metastatic uveal melanoma. J Clin Oncol, 2005, 23(31): 8076-8080.
10.	Singh AD, Turell ME, Topham AK. Uveal melanoma: trends in incidence, treatment, and survival. Ophthalmology, 2011, 118(9): 1881-1885.
11.	Virgili G, Gatta G, Ciccolallo L, et al. Incidence of uveal melanoma in Europe. Ophthalmology, 2007, 114(12): 2309-2315.
12.	Hu DN, Yu GP, Mccormick SA, et al. Population-based incidence of uveal melanoma in various races and ethnic groups. Am J Ophthalmol, 2005, 140(4): 612-617.
13.	Andreoli MT, Mieler WF, Leiderman YI. Epidemiological trends in uveal melanoma. Br J Ophthalmol, 2015, 99(11): 1550-1553.
14.	Shields CL, Kaliki S, Arepalli S, et al. Uveal melanoma in children and teenagers. Saudi J Ophthalmol, 2013, 27(3): 197-201.
15.	Singh AD, Schoenfield LA, Bastian BC, et al. Congenital uveal melanoma?. Surv Ophthalmol, 2016, 61(1): 59-64.
16.	Shields CL, Kaliki S, Cohen MN, et al. Prognosis of uveal melanoma based on race in 8100 patients: the 2015 Doyne Lecture. Eye (Lond), 2015, 29(8): 1027-1035.
17.	Vajdic CM, Kricker A, Giblin M, et al. Eye color and cutaneous nevi predict risk of ocular melanoma in Australia. Int J Cancer, 2001, 92(6): 906-912.
18.	Weis E, Shah CP, Lajous M, et al. The association between host susceptibility factors and uveal melanoma: a meta-analysis. Arch Ophthalmol, 2006, 124(1): 54-60.
19.	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.
20.	Field MG, Harbour JW. Recent developments in prognostic and predictive testing in uveal melanoma. Curr Opin Ophthalmol, 2014, 25(3): 234-239.
21.	Harbour JW, Onken MD, Roberson ED, et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science, 2010, 330(69): 1410-1413.
22.	Harbour JW, Roberson ED, Anbunathan HA, et al. Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nat Genet, 2013, 45(2): 133-135.
23.	Onken MD, Worley LA, Long MD, et al. Oncogenic mutations in GNAQ occur early in uveal melanoma. Invest Ophthalmol Vis Sci, 2008, 49(12): 5230-5234.
24.	van Raamsdonk CD, Bezrookove V, Green GA, et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature, 2009, 457(7229): 599-602.
25.	Van Raamsdonk CD, Griewank KG, Crosby MB, et al. Mutations in GNA11 in uveal melanoma. N Engl J Med, 2010, 363(23): 2191-2199.
26.	Martin M, Maßhöfer L, Temming P, et al. Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3. Nat Genet, 2013, 45(8): 933-936.
27.	Jensen DE, Proctor M, Marquis ST, et al. BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. Oncogene, 1998, 16(9): 1097-1112.
28.	Johansson P, Aoude LG, Wadt K, et al. Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4. Oncotarget, 2016, 7(4): 4624-4631.
29.	Dono M, Angelini G, Cecconi M, et al. Mutation frequencies of GNAQ, GNA11, BAP1, SF3B1, EIF1AX and TERT in uveal melanoma: detection of an activating mutation in the TERT gene promoter in a single case of uveal melanoma. Br J Cancer, 2014, 110(4): 1058-1065.
30.	Koopmans AE, Verdijk RM, Brouwer RW, et al. Clinical significance of immunohistochemistry for detection of BAP1 mutations in uveal melanoma. Mod Pathol, 2014, 27(10): 1321-1330.
31.	van de Nes JA, Nelles J, Kreis S, et al. Comparing the prognostic value of BAP1 mutation pattern, chromosome 3 status, and BAP1 immunohistochemistry in uveal melanoma. Am J Surg Pathol, 2016, 40(6): 796-805.
32.	Decatur CL, Ong E, Garg N, et al. Driver mutations in uveal melanoma associations with gene expression profile and patient outcomes. JAMA Ophthalmol, 2016, 134(7): 728-733.
33.	Ewens KG, Kanetsky PA, Richards-Yutz JA, et al. Chromosome 3 status combined with BAP1 and EIF1AX mutation profiles are associated with metastasis in uveal melanoma. Invest Ophthalmol Vis Sci, 2014, 55(8): 5160-5167.
34.	Xu C, Wu QX, Tan LJ, et al. Combined PKC and MEK inhibition in uveal melanoma with GNAQ and GNA11 mutations. Oncogene, 2014, 33(39): 4724-4734.
35.	Daniels AB, Lee JE, Macconaill LE, et al. High throughput mass spectrometrybased mutation profiling of primary uveal melanoma. Invest Ophthalmol Vis Sci, 2012, 53(11): 6991-6996.
36.	Bauer J, Kilic E, Vaarwater J, et al. Oncogenic GNAQ mutations are not correlated with disease-free survival in uveal melanoma. Br J Cancer, 2009, 101(5): 813-815.
37.	Koopmans AE, Vaarwater J, Paridaens D, et al. Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11. Br J Cancer, 2013, 109(2): 493-496.
38.	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, 2003, 83(12): 1771-1776.
39.	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. Br J Cancer, 2005, 92(11): 2032-2038.
40.	von Euw E, Atefi M, Attar N, et al. Antitumor effects of the investigational selective MeK inhibitor TAK733 against cutaneous and uveal melanoma cell lines. Mol Cancer, 2012, 11: 22.
41.	Mahipal A, Tijani L, Chan K, et al. A pilot study of sunitinib malate in patients with metastatic uveal melanoma. Melanoma Res, 2012, 22(6): 440-446.
42.	Carvajal RD, Sosman JA, Quevedo JF, et al. Effect of selumetinib vs chemotherapy on progression-free survival in uveal melanoma a randomized clinical trial. JAMA, 2014, 311(23): 2397-2405.
43.	Golas MM, Sander B, Will CL, et al. Molecular architecture of the multiprotein splicing factor SF3b. Science, 2003, 300(5621): 980-984.
44.	te Raa GD, Derks I, Navrkalova V, et al. The impact of SF3B1 mutations in CLL on the DNA-damage response. Leukemia, 2015, 29(5): 1133-1142.
45.	Furney SJ, Pedersen M, Gentien D, et al. SF3B1 mutations are associated with alternative splicing in uveal melanoma. Cancer Discov, 2013, 3(10): 1122-1129.
46.	Yavuzyigitoglu S, Koopmans AE, Verdijk RM, et al. Uveal melanomas with SF3B1 mutations a distinct subclass associated with late-onset metastases. Ophthalmology, 2016, 123(5): 1118-1128.
47.	Eskelin S, Kivela T. Mode of presentation and time to treatment of uveal melanoma in Finland. Br J Ophthalmol, 2002, 86(3): 333-338.
48.	The Collaborative Ocular Melanoma Study Group. Factors predictive of growth and treatment of small choroidal melanoma: COMS Report. Arch Ophthalmol, 1997, 115(12): 1537-1544.
49.	Collaborative Ocular Melanoma Study Group. Accuracy of diagnosis of choroidal melanomas in the Collaborative Ocular Melanoma Study. COMS report no. 1. Arch Ophthalmol, 1990, 108(9): 1268-1273.
50.	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.
51.	Yarovoy AA, Magaramov DA, Bulgakova ES. The comparison of ruthenium brachytherapy and simultaneous transpupillary thermotherapy of choroidal melanoma with brachytherapy alone. Brachytherapy, 2012, 11(3): 224-229.
52.	Tarmann L, Wackernagel W, Avian A, et al. Ruthenium-106 plaque brachytherapy for uveal melanoma. Br J Ophthalmol, 2015, 99(12): 1644-1649.
53.	Collaborative Ocular Melanoma Study Group. The COMS randomized trial of iodine 125 brachytherapy for choroidal melanoma: V. Twelve-year mortality rates and prognostic factors: COMS report No. 28. Arch Ophthalmol, 2006, 124(12): 1684-1693.
54.	Sagoo MS, Shields CL, Mashayekhi AA, et al. Plaque radiotherapy for juxtapapillary choroidal melanoma tumor control in 650 consecutive cases. Ophthalmology, 2011, 118(2): 402-407.
55.	Gragoudas E, Li WJ, Goitein M, et al. Evidence-based estimates of outcome in patients irradiated for intraocular melanoma. Arch Ophthalmol, 2002, 120(12): 1665-1671.
56.	Mishra KK, Quivey JM, Daftari IK, et al. Long-term results of the UCSF-LBNL randomized trial: charged particle with helium ion versus iodine-125 plaque therapy for choroidal and ciliary body melanoma. Int J Radiat Oncol Biol Phys, 2015, 92(2): 376-383.
57.	Walker TM, Van Ginkel PR, Gee RL, et al. Expression of angiogenic factors Cyr61 and tissue factor in uveal melanoma. Arch Ophthalmol, 2002, 120(12): 1719-1725.
58.	Desjardins L, Dorval T, Lévy C, et al. Randomised study on adjuvant therapy by DTIC in choroidal melanoma. Ophtalmogie, 1998, 12(3): 168-173.
59.	Lane AM, Egan KM, Harmon D, et al. Adjuvant interferon therapy for patients with uveal melanoma at high risk of metastasis. Ophthalmology, 2009, 116(11): 2206-2212.
60.	Voelter V, Schalenbourg A, Pampallona S, et al. Adjuvant intra-arterial hepatic fotemustine for high-risk uveal melanoma patients. Melanoma Res, 2008, 18(3): 220-224.
61.	Surriga O, Rajasekhar VK, Ambrosini GA, et al. Crizotinib, a c-Met inhibitor, prevents metastasis in a metastatic uveal melanoma model. Mol Cancer Ther, 2013, 12(12): 2817-2826.
62.	Valsecchi ME, Orloff M, Sato R, et al. Adjuvant sunitinib in high-risk patients with uveal melanoma comparison with institutional controls. Ophthalmology, 2018, 125(2): 210-217.
63.	Landreville S, Agapova OA, Matatall KA, et al. Histone deacetylase inhibitors induce growth arrest and differentiation in uveal melanoma. Clin Cancer Res, 2012, 18(2): 408-416.
64.	Collaborative Ocular Melanoma Study Group. Assessment of metastatic disease status at death in 435 patients with large choroidal melanoma in the Collaborative Ocular Melanoma Study (COMS): COMS report no. 15. Arch Ophthalmol, 2001, 119(15): 670-676.
65.	Mariani P, Piperno-Neumann S, Servois V, et al. Surgical management of liver metastases from uveal melanoma: 1.6 years’ experience at the Institut Curie. Eur J Surg Oncol, 2009, 35(11): 1192-1197.
66.	Frenkel S, Nir I, Hendler K, et al. Long-term survival of uveal melanoma patients after surgery for liver metastases. Br J Ophthalmol, 2009, 93(8): 1042-1046.
67.	Leyvraz S, Piperno-Neumann S, Suciu S, et al. Hepatic intra-arterial versus intravenous fotemustine in patients with liver metastases from uveal melanoma: a multicentric randomized trial. Ann Oncol, 2014, 25(EORTC 18021): 742-746.
68.	Pingpank JF, Hughes MS, Faries HR, et al. A phase Ⅲ random assignment trial comparing percutaneous hepatic perfusion with melphalan (PHP-mel) to standard of care for patients with hepatic metastases from metastatic ocular or cutaneous melanoma. J Clin Oncol, 2010, 28(18_Suppl): LBA8512-LBA8512.
69.	Bedikian AY, Legha SS, Mavligit G, et al. Treatment of uveal melanoma metastatic to the liver: a review of the M. D. Anderson Cancer Center experience and prognostic factors. Cancer, 1995, 76(9): 1665-1670.
70.	Zimmer L, Vaubel J, Mohr P, et al. Phase Ⅱ DeCOG-study of ipilimumab in pretreated and treatment-naive patients with metastatic uveal melanoma. PLoS One, 2015, 10(3): e0118564.
71.	Joshua AM, Monzon JG, Mihalcioiu C, et al. A phase 2 study of tremelimumab in patients with advanced uveal melanoma. Melanoma Res, 2015, 25(4): 342-347.
72.	Piperno-Neumann S, Servois V, Mariani P. Activity of anti-PD1 drugs in uveal melanoma patients. J Clin Oncol, 2016, 34(15_Suppl): 9588.
73.	Sato T, Nathan PD, Hernandez-Aya LF, et al. Intra-patient escalation dosing strategy with IMCgp100 results in mitigation of T-cell based toxicity and preliminary efficacy in advanced uveal melanoma. J Clin Oncol, 2017, 35(15_Suppl): 9531.
74.	Shoushtari AN, Kudchadkar RR, Panageas K, et al. A randomized phase 2 study of trametinib with or without GSK2141795 in patients with advanced uveal melanoma. J Clin Oncol, 2016, 34(15_Suppl): 9511.
75.	Piperno-Neumann S, Kapiteijn E, Larkin JM, et al. Phase Ⅰ dose-escalation study of the protein kinase C (PKC) inhibitor AEB071 in patients with metastatic uveal melanoma. J Clin Oncol, 2014, 32(15_Suppl): 9030.
76.	Komatsubara KM, Shoushtari AN, Feun L. A phase Ⅰb study of AEB071, a PKC inhibitor, and BYL719, a PI3Ka inhibitor, in patients with metastatic uveal melanoma (UM)//14th International Congress of the Society for Melanoma Research. Brisbane, Australia: Society for Melanoma Research, 2017.
77.	Shields CL, Kaliki S, Furuta M, et al. American joint committee on cancer classification of posterior uveal melanoma (tumor size category) predicts prognosis in 7731 patients. Ophthalmology, 2013, 120(10): 2066-2071.
78.	Khoja L, Atenafu EG, Joshua AM. Meta-analysis of phase Ⅱ trials in metastatic uveal melanoma (MUM) to determine progression-free (PFS) and overall survival (OS) benchmarks for future phase Ⅱ trials: an irci-ocular melanoma initiative. J Clin Oncol, 2016, 34(15_Suppl): 9567.
79.	Versluis M, de Lange MJ, van Pelt SI, et al. Digital PCR validates 8q dosage as prognostic tool in uveal melanoma. PLoS One, 2015, 10: e0116371.
80.	Field MG, Decatur CL, Kurtenbach SA, et al. PRAME as an Independent biomarker for metastasis in uveal melanoma. Clin Cancer Res, 2016, 22(5): 1234-1242.
81.	Robertson AG, Shih J, Yau C, et al. Integrative analysis identifies four molecular and clinical subsets in uveal melanoma. Cancer Cell, 2017, 32(2): 204-220.

1. Mclaughlin CC, Wu XC, Jemal A, et al. Incidence of noncutaneous melanomas in the U. S. Cancer, 2005, 103(5): 1000-1007.
2. Singh AD, Topham A. Incidence of uveal melanoma in the United States: 1973-1997. Ophthalmology, 2003, 110(5): 956-961.
3. 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.
4. Shields CL, Furuta M, Thangappan A, et al. Metastasis of uveal melanoma millimeter-by-millimeter in 8033 consecutive eyes. Arch Ophthalmol, 2009, 127(8): 989-998.
5. Liu YM, Li Y, Wei WB, et al. Clinical characteristics of 582 patients with uveal melanoma in China. PLoS One, 2015, 10(12): e0144562.
6. Cerbone L, Van Ginderdeuren R, Van den Oord JA, et al. Clinical presentation, pathological features and natural course of metastatic uveal melanoma, an orphan and commonly fatal disease. Oncology, 2014, 86(3): 185-189.
7. Virgili G, Gatta G, Ciccolallo L, et al. Survival in patients with uveal melanoma in Europe. Arch Ophthalmol, 2008, 126(10): 1413-1418.
8. Kujala E, Mäkitie T, Kivelä T. Very long-term prognosis of patients with malignant uveal melanoma. Invest Ophthalmol Vis Sci, 2003, 44(11): 4651-4659.
9. Rietschel P, Panageas KS, Hanlon C, et al. Variates of survival in metastatic uveal melanoma. J Clin Oncol, 2005, 23(31): 8076-8080.
10. Singh AD, Turell ME, Topham AK. Uveal melanoma: trends in incidence, treatment, and survival. Ophthalmology, 2011, 118(9): 1881-1885.
11. Virgili G, Gatta G, Ciccolallo L, et al. Incidence of uveal melanoma in Europe. Ophthalmology, 2007, 114(12): 2309-2315.
12. Hu DN, Yu GP, Mccormick SA, et al. Population-based incidence of uveal melanoma in various races and ethnic groups. Am J Ophthalmol, 2005, 140(4): 612-617.
13. Andreoli MT, Mieler WF, Leiderman YI. Epidemiological trends in uveal melanoma. Br J Ophthalmol, 2015, 99(11): 1550-1553.
14. Shields CL, Kaliki S, Arepalli S, et al. Uveal melanoma in children and teenagers. Saudi J Ophthalmol, 2013, 27(3): 197-201.
15. Singh AD, Schoenfield LA, Bastian BC, et al. Congenital uveal melanoma?. Surv Ophthalmol, 2016, 61(1): 59-64.
16. Shields CL, Kaliki S, Cohen MN, et al. Prognosis of uveal melanoma based on race in 8100 patients: the 2015 Doyne Lecture. Eye (Lond), 2015, 29(8): 1027-1035.
17. Vajdic CM, Kricker A, Giblin M, et al. Eye color and cutaneous nevi predict risk of ocular melanoma in Australia. Int J Cancer, 2001, 92(6): 906-912.
18. Weis E, Shah CP, Lajous M, et al. The association between host susceptibility factors and uveal melanoma: a meta-analysis. Arch Ophthalmol, 2006, 124(1): 54-60.
19. 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.
20. Field MG, Harbour JW. Recent developments in prognostic and predictive testing in uveal melanoma. Curr Opin Ophthalmol, 2014, 25(3): 234-239.
21. Harbour JW, Onken MD, Roberson ED, et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science, 2010, 330(69): 1410-1413.
22. Harbour JW, Roberson ED, Anbunathan HA, et al. Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nat Genet, 2013, 45(2): 133-135.
23. Onken MD, Worley LA, Long MD, et al. Oncogenic mutations in GNAQ occur early in uveal melanoma. Invest Ophthalmol Vis Sci, 2008, 49(12): 5230-5234.
24. van Raamsdonk CD, Bezrookove V, Green GA, et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature, 2009, 457(7229): 599-602.
25. Van Raamsdonk CD, Griewank KG, Crosby MB, et al. Mutations in GNA11 in uveal melanoma. N Engl J Med, 2010, 363(23): 2191-2199.
26. Martin M, Maßhöfer L, Temming P, et al. Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3. Nat Genet, 2013, 45(8): 933-936.
27. Jensen DE, Proctor M, Marquis ST, et al. BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. Oncogene, 1998, 16(9): 1097-1112.
28. Johansson P, Aoude LG, Wadt K, et al. Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4. Oncotarget, 2016, 7(4): 4624-4631.
29. Dono M, Angelini G, Cecconi M, et al. Mutation frequencies of GNAQ, GNA11, BAP1, SF3B1, EIF1AX and TERT in uveal melanoma: detection of an activating mutation in the TERT gene promoter in a single case of uveal melanoma. Br J Cancer, 2014, 110(4): 1058-1065.
30. Koopmans AE, Verdijk RM, Brouwer RW, et al. Clinical significance of immunohistochemistry for detection of BAP1 mutations in uveal melanoma. Mod Pathol, 2014, 27(10): 1321-1330.
31. van de Nes JA, Nelles J, Kreis S, et al. Comparing the prognostic value of BAP1 mutation pattern, chromosome 3 status, and BAP1 immunohistochemistry in uveal melanoma. Am J Surg Pathol, 2016, 40(6): 796-805.
32. Decatur CL, Ong E, Garg N, et al. Driver mutations in uveal melanoma associations with gene expression profile and patient outcomes. JAMA Ophthalmol, 2016, 134(7): 728-733.
33. Ewens KG, Kanetsky PA, Richards-Yutz JA, et al. Chromosome 3 status combined with BAP1 and EIF1AX mutation profiles are associated with metastasis in uveal melanoma. Invest Ophthalmol Vis Sci, 2014, 55(8): 5160-5167.
34. Xu C, Wu QX, Tan LJ, et al. Combined PKC and MEK inhibition in uveal melanoma with GNAQ and GNA11 mutations. Oncogene, 2014, 33(39): 4724-4734.
35. Daniels AB, Lee JE, Macconaill LE, et al. High throughput mass spectrometrybased mutation profiling of primary uveal melanoma. Invest Ophthalmol Vis Sci, 2012, 53(11): 6991-6996.
36. Bauer J, Kilic E, Vaarwater J, et al. Oncogenic GNAQ mutations are not correlated with disease-free survival in uveal melanoma. Br J Cancer, 2009, 101(5): 813-815.
37. Koopmans AE, Vaarwater J, Paridaens D, et al. Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11. Br J Cancer, 2013, 109(2): 493-496.
38. 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, 2003, 83(12): 1771-1776.
39. 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. Br J Cancer, 2005, 92(11): 2032-2038.
40. von Euw E, Atefi M, Attar N, et al. Antitumor effects of the investigational selective MeK inhibitor TAK733 against cutaneous and uveal melanoma cell lines. Mol Cancer, 2012, 11: 22.
41. Mahipal A, Tijani L, Chan K, et al. A pilot study of sunitinib malate in patients with metastatic uveal melanoma. Melanoma Res, 2012, 22(6): 440-446.
42. Carvajal RD, Sosman JA, Quevedo JF, et al. Effect of selumetinib vs chemotherapy on progression-free survival in uveal melanoma a randomized clinical trial. JAMA, 2014, 311(23): 2397-2405.
43. Golas MM, Sander B, Will CL, et al. Molecular architecture of the multiprotein splicing factor SF3b. Science, 2003, 300(5621): 980-984.
44. te Raa GD, Derks I, Navrkalova V, et al. The impact of SF3B1 mutations in CLL on the DNA-damage response. Leukemia, 2015, 29(5): 1133-1142.
45. Furney SJ, Pedersen M, Gentien D, et al. SF3B1 mutations are associated with alternative splicing in uveal melanoma. Cancer Discov, 2013, 3(10): 1122-1129.
46. Yavuzyigitoglu S, Koopmans AE, Verdijk RM, et al. Uveal melanomas with SF3B1 mutations a distinct subclass associated with late-onset metastases. Ophthalmology, 2016, 123(5): 1118-1128.
47. Eskelin S, Kivela T. Mode of presentation and time to treatment of uveal melanoma in Finland. Br J Ophthalmol, 2002, 86(3): 333-338.
48. The Collaborative Ocular Melanoma Study Group. Factors predictive of growth and treatment of small choroidal melanoma: COMS Report. Arch Ophthalmol, 1997, 115(12): 1537-1544.
49. Collaborative Ocular Melanoma Study Group. Accuracy of diagnosis of choroidal melanomas in the Collaborative Ocular Melanoma Study. COMS report no. 1. Arch Ophthalmol, 1990, 108(9): 1268-1273.
50. 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.
51. Yarovoy AA, Magaramov DA, Bulgakova ES. The comparison of ruthenium brachytherapy and simultaneous transpupillary thermotherapy of choroidal melanoma with brachytherapy alone. Brachytherapy, 2012, 11(3): 224-229.
52. Tarmann L, Wackernagel W, Avian A, et al. Ruthenium-106 plaque brachytherapy for uveal melanoma. Br J Ophthalmol, 2015, 99(12): 1644-1649.
53. Collaborative Ocular Melanoma Study Group. The COMS randomized trial of iodine 125 brachytherapy for choroidal melanoma: V. Twelve-year mortality rates and prognostic factors: COMS report No. 28. Arch Ophthalmol, 2006, 124(12): 1684-1693.
54. Sagoo MS, Shields CL, Mashayekhi AA, et al. Plaque radiotherapy for juxtapapillary choroidal melanoma tumor control in 650 consecutive cases. Ophthalmology, 2011, 118(2): 402-407.
55. Gragoudas E, Li WJ, Goitein M, et al. Evidence-based estimates of outcome in patients irradiated for intraocular melanoma. Arch Ophthalmol, 2002, 120(12): 1665-1671.
56. Mishra KK, Quivey JM, Daftari IK, et al. Long-term results of the UCSF-LBNL randomized trial: charged particle with helium ion versus iodine-125 plaque therapy for choroidal and ciliary body melanoma. Int J Radiat Oncol Biol Phys, 2015, 92(2): 376-383.
57. Walker TM, Van Ginkel PR, Gee RL, et al. Expression of angiogenic factors Cyr61 and tissue factor in uveal melanoma. Arch Ophthalmol, 2002, 120(12): 1719-1725.
58. Desjardins L, Dorval T, Lévy C, et al. Randomised study on adjuvant therapy by DTIC in choroidal melanoma. Ophtalmogie, 1998, 12(3): 168-173.
59. Lane AM, Egan KM, Harmon D, et al. Adjuvant interferon therapy for patients with uveal melanoma at high risk of metastasis. Ophthalmology, 2009, 116(11): 2206-2212.
60. Voelter V, Schalenbourg A, Pampallona S, et al. Adjuvant intra-arterial hepatic fotemustine for high-risk uveal melanoma patients. Melanoma Res, 2008, 18(3): 220-224.
61. Surriga O, Rajasekhar VK, Ambrosini GA, et al. Crizotinib, a c-Met inhibitor, prevents metastasis in a metastatic uveal melanoma model. Mol Cancer Ther, 2013, 12(12): 2817-2826.
62. Valsecchi ME, Orloff M, Sato R, et al. Adjuvant sunitinib in high-risk patients with uveal melanoma comparison with institutional controls. Ophthalmology, 2018, 125(2): 210-217.
63. Landreville S, Agapova OA, Matatall KA, et al. Histone deacetylase inhibitors induce growth arrest and differentiation in uveal melanoma. Clin Cancer Res, 2012, 18(2): 408-416.
64. Collaborative Ocular Melanoma Study Group. Assessment of metastatic disease status at death in 435 patients with large choroidal melanoma in the Collaborative Ocular Melanoma Study (COMS): COMS report no. 15. Arch Ophthalmol, 2001, 119(15): 670-676.
65. Mariani P, Piperno-Neumann S, Servois V, et al. Surgical management of liver metastases from uveal melanoma: 1.6 years’ experience at the Institut Curie. Eur J Surg Oncol, 2009, 35(11): 1192-1197.
66. Frenkel S, Nir I, Hendler K, et al. Long-term survival of uveal melanoma patients after surgery for liver metastases. Br J Ophthalmol, 2009, 93(8): 1042-1046.
67. Leyvraz S, Piperno-Neumann S, Suciu S, et al. Hepatic intra-arterial versus intravenous fotemustine in patients with liver metastases from uveal melanoma: a multicentric randomized trial. Ann Oncol, 2014, 25(EORTC 18021): 742-746.
68. Pingpank JF, Hughes MS, Faries HR, et al. A phase Ⅲ random assignment trial comparing percutaneous hepatic perfusion with melphalan (PHP-mel) to standard of care for patients with hepatic metastases from metastatic ocular or cutaneous melanoma. J Clin Oncol, 2010, 28(18_Suppl): LBA8512-LBA8512.
69. Bedikian AY, Legha SS, Mavligit G, et al. Treatment of uveal melanoma metastatic to the liver: a review of the M. D. Anderson Cancer Center experience and prognostic factors. Cancer, 1995, 76(9): 1665-1670.
70. Zimmer L, Vaubel J, Mohr P, et al. Phase Ⅱ DeCOG-study of ipilimumab in pretreated and treatment-naive patients with metastatic uveal melanoma. PLoS One, 2015, 10(3): e0118564.
71. Joshua AM, Monzon JG, Mihalcioiu C, et al. A phase 2 study of tremelimumab in patients with advanced uveal melanoma. Melanoma Res, 2015, 25(4): 342-347.
72. Piperno-Neumann S, Servois V, Mariani P. Activity of anti-PD1 drugs in uveal melanoma patients. J Clin Oncol, 2016, 34(15_Suppl): 9588.
73. Sato T, Nathan PD, Hernandez-Aya LF, et al. Intra-patient escalation dosing strategy with IMCgp100 results in mitigation of T-cell based toxicity and preliminary efficacy in advanced uveal melanoma. J Clin Oncol, 2017, 35(15_Suppl): 9531.
74. Shoushtari AN, Kudchadkar RR, Panageas K, et al. A randomized phase 2 study of trametinib with or without GSK2141795 in patients with advanced uveal melanoma. J Clin Oncol, 2016, 34(15_Suppl): 9511.
75. Piperno-Neumann S, Kapiteijn E, Larkin JM, et al. Phase Ⅰ dose-escalation study of the protein kinase C (PKC) inhibitor AEB071 in patients with metastatic uveal melanoma. J Clin Oncol, 2014, 32(15_Suppl): 9030.
76. Komatsubara KM, Shoushtari AN, Feun L. A phase Ⅰb study of AEB071, a PKC inhibitor, and BYL719, a PI3Ka inhibitor, in patients with metastatic uveal melanoma (UM)//14th International Congress of the Society for Melanoma Research. Brisbane, Australia: Society for Melanoma Research, 2017.
77. Shields CL, Kaliki S, Furuta M, et al. American joint committee on cancer classification of posterior uveal melanoma (tumor size category) predicts prognosis in 7731 patients. Ophthalmology, 2013, 120(10): 2066-2071.
78. Khoja L, Atenafu EG, Joshua AM. Meta-analysis of phase Ⅱ trials in metastatic uveal melanoma (MUM) to determine progression-free (PFS) and overall survival (OS) benchmarks for future phase Ⅱ trials: an irci-ocular melanoma initiative. J Clin Oncol, 2016, 34(15_Suppl): 9567.
79. Versluis M, de Lange MJ, van Pelt SI, et al. Digital PCR validates 8q dosage as prognostic tool in uveal melanoma. PLoS One, 2015, 10: e0116371.
80. Field MG, Decatur CL, Kurtenbach SA, et al. PRAME as an Independent biomarker for metastasis in uveal melanoma. Clin Cancer Res, 2016, 22(5): 1234-1242.
81. Robertson AG, Shih J, Yau C, et al. Integrative analysis identifies four molecular and clinical subsets in uveal melanoma. Cancer Cell, 2017, 32(2): 204-220.

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