Conjunctival melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas

Clinical Cancer Research

Volumn 19, Issue 12, 2013, Pages 3143-3152

  Griewank, Klaus G ^a   Westekemper, Henrike ^b   Murali, Rajmohan ^b   Mach, Monika ^d   Schilling, Bastian ^a   Wiesner, Thomas ^f   Schimming, Tobias ^a   Livingstone, Elisabeth ^a   Sucker, Antje ^a   Grabellus, Florian ^c   Metz, Claudia ^b   Süsskind, Daniela ^g   Hillen, Uwe ^a   Speicher, Michael R ^d   Woodman, Scott E ^e   Steuhl, Klaus Peter ^b   Schadendorf, Dirk ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b Department of Ophthalmology ^*  (United States)

^c UNIVERSITY OF DUISBURG ESSEN   (Germany)

^d MEDICAL UNIVERSITY OF GRAZ   (Austria)

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

^f MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^g UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE;

ADULT; AGED; ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONJUNCTIVA TUMOR; CONJUNCTIVAL MELANOMA; CONTROLLED STUDY; COPY NUMBER VARIATION; CUTANEOUS MELANOMA; DISTANT METASTASIS FREE SURVIVAL; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MELANOCYTIC NEVUS; MELANOMA; MUCOSAL MELANOMA; ONCOGENE BRAF; ONCOGENE N RAS; PRIORITY JOURNAL; UVEA MELANOMA;

ADULT; AGED; AGED, 80 AND OVER; COMPARATIVE GENOMIC HYBRIDIZATION; CONJUNCTIVAL NEOPLASMS; DNA COPY NUMBER VARIATIONS; FEMALE; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MELANOMA; MEMBRANE PROTEINS; MIDDLE AGED; MUCOUS MEMBRANE; MUTATION; PROTO-ONCOGENE PROTEINS B-RAF; SEQUENCE ANALYSIS, DNA; SKIN;

EID: 84879466800     PISSN: 10780432     EISSN: 15573265     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-13-0163     Document Type: Article

References (53)

1. Lozano R, Naghavi M, Foreman K, Lim S, Shibuya K, Aboyans V, et al. Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 2010. Lancet 2013;380: 2095-128.
2. Siegel R, Naishadham D, Jemal A. Cancer statistics, 2012. CA Cancer J Clin 2012;62:10-29.
3. Hodi FS, O'Day SJ, McDermott DF, Weber RW, Sosman JA, Haanen JB, et al. Improved survival with ipilimumab in patients with metastatic melanoma. N Engl J Med 2010;363:711-23.
4. Chapman PB, Hauschild A, Robert C, Haanen JB, Ascierto P, Larkin J, et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med 2011;364:2507-16.
5. Flaherty KT, Robert C, Hersey P, Nathan P, Garbe C, Milhem M, et al. Improved survival with MEK inhibition in BRAF-mutated melanoma. N Engl J Med 2012;367:107-14.
6. Flaherty KT, Puzanov I, Kim KB, Ribas A, McArthur GA, Sosman JA, et al. Inhibition of mutated, activated BRAF in metastatic melanoma. N Engl J Med 2010;363:809-19.
7. Carvajal RD, Antonescu CR, Wolchok JD, Chapman PB, Roman RA, Teitcher J, et al. KIT as a therapeutic target in metastatic melanoma. JAMA 2011;305:2327-34.
8. Harooni H, Schoenfield LR, Singh AD. Current appraisal of conjunctival melanocytic tumors: classification and treatment. Future Oncol 2011;7:435-46.
9. Triay E, Bergman L, Nilsson B, All-Ericsson C, Seregard S. Time trends in the incidence of conjunctival melanoma in Sweden. Br J Ophthalmol 2009;93:1524-8.
10. Tuomaala S, Eskelin S, Tarkkanen A, Kivela T. Population-based assessment of clinical characteristics predicting outcome of conjunctival melanoma in whites. Invest Ophthalmol Vis Sci 2002;43: 3399-408.
11. 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;83:1664-78.
12. Yu GP, Hu DN, McCormick S, Finger PT. Conjunctival melanoma: is it increasing in the United States? Am J Ophthalmol 2003;135: 800-6.
13. Hu DN, Yu G, McCormick SA, Finger PT. Population-based incidence of conjunctival melanoma in various races and ethnic groups and comparison with other melanomas. Am J Ophthalmol 2008;145: 418-23.
14. Tuomaala S, Kivela T. Conjunctival melanoma: is it increasing in the United States? Am J Ophthalmol 2003;136:1189-90; author reply 1190.
15. Shields CL, Shields JA, Gunduz K, Cater J, Mercado GV, Gross N, et al. Conjunctival melanoma: risk factors for recurrence, exenteration, metastasis, and death in 150 consecutive patients. Arch Ophthalmol 2000;118:1497-507.
16. Paridaens AD, McCartney AC, Minassian DC, Hungerford JL. Orbital exenteration in 95 cases of primary conjunctival malignant melanoma. Br J Ophthalmol 1994;78:520-8.
17. Werschnik C, Lommatzsch PK. Long-term follow-up of patients with conjunctival melanoma. Am J Clin Oncol 2002;25:248-55.
18. Missotten GS, Keijser S, De Keizer RJ, De Wolff-Rouendaal D. Conjunctival melanoma in the Netherlands: a nationwide study. Invest Ophthalmol Vis Sci 2005;46:75-82.
19. Shildkrot Y, Wilson MW. Conjunctival melanoma: pitfalls and dilemmas in management. Curr Opin Ophthalmol 2010;21:380-6.
20. Folberg R, McLean IW, Zimmerman LE. Conjunctival melanosis and melanoma. Ophthalmology 1984;91:673-8.
21. Zembowicz A, Mandal RV, Choopong P. Melanocytic lesions of the conjunctiva. Arch Pathol Lab Med 2010;134:1785-92.
22. Shields CL, Markowitz JS, Belinsky I, Schwartzstein H, George NS, Lally SE, et al. Conjunctival melanoma: outcomes based on tumor origin in 382 consecutive cases. Ophthalmology 2011;118:389-95. e1-2.
23. Paridaens AD, Minassian DC, McCartney AC, Hungerford JL. Prognostic factors in primary malignant melanoma of the conjunctiva: a clinicopathological study of 256 cases. Br J Ophthalmol 1994;78: 252-9.
24. Ko JM, Fisher DE. A new era: melanoma genetics and therapeutics. J Pathol 2011;223:241-50.
25. Sekulic A, Haluska P Jr, Miller AJ, Genebriera De Lamo J, Ejadi S, Pulido JS, et al. Malignant melanoma in the 21st century: the emerging molecular landscape. Mayo Clin Proc 2008;83:825-46.
26. 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.
27. Spendlove HE, Damato BE, Humphreys J, Barker KT, Hiscott PS, Houlston RS. BRAF mutations are detectable in conjunctival but not uveal melanomas. Melanoma Res 2004;14:449-52.
28. 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.
29. Van Raamsdonk CD, Griewank KG, Crosby MB, Garrido MC, Vemula S, Wiesner T, et al. Mutations in GNA11 in uveal melanoma. N Engl J Med 2010;363:2191-9.
30. Harbour JW, Onken MD, Roberson ED, Duan S, Cao L, Worley LA, et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 2010;330:1410-3.
31. Lake SL, Jmor F, Dopierala J, Taktak AF, Coupland SE, Damato BE. Multiplex ligation-dependent probe amplification of conjunctival melanoma reveals common BRAF V600E gene mutation and gene copy number changes. Invest Ophthalmol Vis Sci 2011;52:5598-604.
32. Goldenberg-Cohen N, Cohen Y, Rosenbaum E, Herscovici Z, Chowers I, Weinberger D, et al. T1799A BRAF mutations in conjunctival melanocytic lesions. Invest Ophthalmol Vis Sci 2005;46: 3027-30.
33. Gear H, Williams H, Kemp EG, Roberts F. BRAF mutations in conjunctival melanoma. Invest Ophthalmol Vis Sci 2004;45:2484-8.
34. Dratviman-Storobinsky O, Cohen Y, Frenkel S, Pe'er J, Goldenberg-Cohen N. Lack of oncogenic GNAQ mutations in melanocytic lesions of the conjunctiva as compared to uveal melanoma. Invest Ophthalmol Vis Sci 2010;51:6180-2.
35. Beadling C, Jacobson-Dunlop E, Hodi FS, Le C, Warrick A, Patterson J, et al. KIT gene mutations and copy number in melanoma subtypes. Clin Cancer Res 2008;14:6821-8.
36. Wallander ML, Layfield LJ, Emerson LL, Mamalis N, Davis D, Tripp SR, et al. KIT mutations in ocular melanoma: frequency and anatomic distribution. Mod Pathol 2011;24:1031-5.
37. El-Shabrawi Y, Radner H, Muellner K, Langmann G, Hoefler G. The role of UV-radiation in the development of conjunctival malignant melanoma. Acta Ophthalmol Scand 1999;77:31-2.
38. Vajdic CM, Hutchins AM, Kricker A, Aitken JF, Armstrong BK, Hayward NK, et al. Chromosomal gains and losses in ocular melanoma detected by comparative genomic hybridization in an Australian population-based study. Cancer Genet Cytogenet 2003; 144:12-7.
39. Wiesner T, Obenauf AC, Murali R, Fried I, Griewank KG, Ulz P, et al. Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet 2011;43:1018-21.
40. Beroukhim R, Getz G, Nghiemphu L, Barretina J, Hsueh T, Linhart D, et al. Assessing the significance of chromosomal aberrations in cancer: methodology and application to glioma. Proc Natl Acad Sci U S A 2007;104:20007-12.
41. Beroukhim R, Mermel CH, Porter D, Wei G, Raychaudhuri S, Donovan J, et al. The landscape of somatic copy-number alteration across human cancers. Nature 2010;463:899-905.
42. Mermel CH, Schumacher SE, Hill B, Meyerson ML, Beroukhim R, Getz G. GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers. Genome Biol 2011;12:R41.
43. Geigl JB, Speicher MR. Single-cell isolation from cell suspensions and whole genome amplification from single cells to provide templates for CGH analysis. Nat Protoc 2007;2:3173-84.
44. Griewank KG, Yu X, Khalili J, Sozen MM, Stempke-Hale K, Bernatchez C, et al. Genetic and molecular characterization of uveal melanoma cell lines. Pigment Cell Melanoma Res 2012;25:182-7.
45. Houben R, Becker JC, Kappel A, Terheyden P, Brocker EB, Goetz R, et al. Constitutive activation of the Ras-Raf signaling pathway in metastatic melanoma is associated with poor prognosis. J Carcinog 2004;3:6.
46. Ehlers JP, Worley L, Onken MD, Harbour JW. Integrative genomic analysis of aneuploidy in uveal melanoma. Clin Cancer Res 2008;14: 115-22.
47. Prescher G, Bornfeld N, Horsthemke B, Becher R. Chromosomal aberrations defining uveal melanoma of poor prognosis. Lancet 1992;339:691-2.
48. Prescher G, Bornfeld N, Hirche H, Horsthemke B, Jockel KH, Becher R. Prognostic implications of monosomy 3 in uveal melanoma. Lancet 1996;347:1222-5.
49. Tyner JW, Fletcher LB, Wang EQ, Yang WF, Rutenberg-Schoenberg ML, Beadling C, et al. MET receptor sequence varian
50. Gast A, Scherer D, Chen B, Bloethner S, Melchert S, Sucker A, et al. Somatic alterations in the melanoma genome: a high-resolution arraybased comparative genomic hybridization study. Genes Chromosomes Cancer 2010;49:733-45.
51. Lazar V, Ecsedi S, Vizkeleti L, Rakosy Z, Boross G, Szappanos B, et al. Marked genetic differences between BRAF and NRAS mutated primary melanomas as revealed by array comparative genomic hybridization. Melanoma Res 2012;22:202-14.
52. Curtin JA, Busam K, Pinkel D, Bastian BC. Somatic activation of KIT in distinct subtypes of melanoma. J Clin Oncol 2006;24: 4340-6.
53. Flaherty KT, Infante JR, Daud A, Gonzalez R, Kefford RF, Sosman J, et al. Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations. N Engl J Med 2012;367:1694-703.