Ocular melanoma and the BAP1 hereditary cancer syndrome: Implications for the dermatologist

International Journal of Dermatology

Volumn 53, Issue 6, 2014, Pages 657-663

  Martorano, Lisa M ^a   Winkelmann, Richard R ^b   Cebulla, Colleen M ^c   Abdel Rahman, Mohamed H ^c   Campbell, Shannon M ^c  

^a UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^b OHIO UNIVERSITY   (United States)

^c THE OHIO STATE UNIVERSITY WEXNER MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE 4; CYCLIN DEPENDENT KINASE INHIBITOR 2A; BAP1 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN; UBIQUITIN THIOLESTERASE;

BRACHYTHERAPY; BRCA1 ASSOCIATED PROTEIN 1 GENE; CANCER EPIDEMIOLOGY; CANCER PROGNOSIS; CANCER RADIOTHERAPY; CANCER RISK; CANCER SIZE; CANCER SURVIVAL; CHARGED PARTICLE IRRADIATION; CHOROID MELANOMA; CHROMOSOME 10; CHROMOSOME 3; CHROMOSOME 3P; CHROMOSOME 6; CILIARY BODY MELANOMA; CILIARY BODY TUMOR; CLINICAL FEATURE; CUTANEOUS MELANOMA; CYCLIN DEPENDENT KINASE 4 GENE; CYCLIN DEPENDENT KINASE INHIBITOR 2A GENE; DERMATOLOGIST; DYSPLASTIC NEVUS; ECHOGRAPHY; EYE SURGERY; FAMILIAL CANCER; FLUORESCENCE ANGIOGRAPHY; GENE OVEREXPRESSION; GENETIC PREDISPOSITION; GENETIC RISK; GENOTYPE; GERMLINE MUTATION; GNAQ GENE; HUMAN; IMMUNOHISTOCHEMISTRY; INCIDENCE; IRIS MELANOMA; IRIS TUMOR; IRRADIATION; LOCAL EXCISION; MELANOCYTE; METASTASIS POTENTIAL; MONOSOMY; MONOSOMY 3; ONCOGENE; OPHTHALMOSCOPY; OTA NEVUS; PATHOGENESIS; PROTON THERAPY; REVIEW; SCOTOMA; SLIT LAMP; SOMATIC MUTATION; SURVIVAL RATE; TRANSPUPILLARY THERMOTHERAPY; UVEA MELANOMA; VISUAL DISORDER; VITREOUS FLOATERS; CONJUNCTIVAL NEOPLASMS; EPIDEMIOLOGY; FEMALE; GENE EXPRESSION REGULATION; GENETICS; MALE; MELANOMA; MIDDLE AGED; PROGNOSIS; RISK ASSESSMENT; SKIN NEOPLASMS; SYNDROME; TREATMENT OUTCOME; UVEAL NEOPLASMS;

CONJUNCTIVAL NEOPLASMS; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INCIDENCE; MALE; MELANOMA; MIDDLE AGED; PROGNOSIS; RISK ASSESSMENT; SKIN NEOPLASMS; SYNDROME; TREATMENT OUTCOME; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN THIOLESTERASE; UVEAL NEOPLASMS;

EID: 84900808212     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/ijd.12386     Document Type: Review

References (58)

1. Watson M, Johnson CJ, Chen VW, et al. Melanoma surveillance in the United States: overview of methods. J Am Acad Dermatol 2011; 65: S6-S16.
2. Hurst EA, Harbour W, Cornelius LA. Ocular melanoma: a review and the relationship to cutaneous melanoma. Arch Dermatol 2003; 139: 1067-1073.
3. van den Bosch T, Kilic E, Paridaens D, et al. Genetics of uveal melanoma and cutaneous melanoma: two of a kind? Dermatol Res Pract 2010; 2010: 360136.
4. Grin JM, Grant-Kels JM, Grin CM, et al. Ocular melanomas and melanocytic lesions of the eye. J Am Acad Dermatol 1998; 38: 716-730.
5. Shields CL, Markowitz JS, Belinsky I, et al. Conjunctival melanoma. Ophthalmology 2011; 14: 389-395.
6. Farber M, Schutzer P, Mihm MC Jr. Pigmented lesions of the conjunctiva. J Am Acad Dermatol 1998; 38: 971-978.
7. Singh AD, Turell ME, Topham AK. Uveal melanoma: trends in incidence, treatment and survival. Ophthalmology 2011; 118: 1881-1885.
8. Hu D-N, Yu G-P, McCormick SA, et al. Population-based incidence of uveal melanoma in various races and ethnic groups. Am J Ophthalmol 2005; 140: 612-617.
9. Shields CL, Shields JA. Ocular melanoma: relatively rare but requiring respect. Clin Dermatol 2009; 27: 122-133.
10. American Joint Committee on Cancer. Malignant melanoma of the uvea. AJCC Cancer Staging Manual, 7th edn. Chicago, IL: Springer, 2010: 547-553.
11. Shields CL, Shields JA, Kiratli H, et al. Risk factors for growth and metastasis of small choroidal melanocytic lesions. Ophthalmology 1995; 102: 1351-1361.
12. Shields CL, Furuta M, Berman EL, et al. Choroidal nevus transformation into melanoma. Arch Ophthalmol 2009; 127: 981-987.
13. Shields CL, Demirci H, Materin MA, et al. Clinical factors in the identification of small choroidal melanoma. Can J Ophthamol 2004; 39: 351-357.
14. Mashayekhi A, Siu S, Shields CL, et al. Slow enlargement of choroidal nevi: a long-term follow-up study. Ophthalmology 2011; 14: 382-388.
15. Gragoudas ES, Egan KM, Seddon JM, et al. Survival of patients with metastases from uveal melanoma. Ophthalmology 1991; 98: 383-389.
16. Damato B, Duke C, Coupland SE, et al. Cytogenetics of uveal melanoma. Ophthalmology 2007; 114: 1925-1931.
17. Reiniger IW, Wolf A, Welge-Lüssen U, et al. Osteopontin as a serologic marker for metastatic uveal melanoma: results of a pilot study. Am J Ophthalmol 2007; 143: 705-707.
18. 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: 1639-1643.
19. Augsburger JJ, Corrêa ZM, Trichopoulos N. Surveillance testing for metastasis from primary uveal melanoma and effect on patient survival. Am J Ophthalmol 2011; 152: 5-9.
20. Buzzacco DM, Abdel-Rahman MH, Park S, et al. Long-term survivors with metastatic uveal melanoma. Open Ophthalmol J 2012; 6: 49-53.
21. Rietschel P, Panageas KS, Hanlon C, et al. Variates of survival in metastatic uveal melanoma. J Clin Oncol 2005; 23: 8076-8080.
22. 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: 1042-1046.
23. Aoyama T, Mastrangelo MJ, Berd D, et al. Protracted survival after resection of metastatic uveal melanoma. Cancer 2000; 89: 1561-1568.
24. Eskelin S, Pyrhönen S, Hahka-Kemppinen M. A prognostic model and staging for metastatic uveal melanoma. Cancer 2003; 97: 465-475.
25. Eskelin S, Pyrhönen S, Summanen P, et al. Tumor doubling times in metastatic malignant melanoma of the uvea: tumor progression before and after treatment. Ophthalmology 2000; 107: 1443-1449.
26. Singh AD. Uveal melanoma: implications of tumor doubling time. Ophthalmology 2001; 108: 829-831.
27. Shah CP, Weis E, Lajous M, et al. Intermittent and chronic ultraviolet light exposure and uveal melanoma. Ophthalmology 2005; 112: 1599-1607.
28. Van Raamsdonk CD, Griewank KG, Crosby MB, et al. Mutations in GNA11 in uveal melanoma. N Engl J Med 2010; 363: 2191-2199.
29. Van Raamsdonk CD, Bezrookove V, Green G, et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue nevi. Nature 2009; 457: 599-602.
30. Harbour JW. The genetics of uveal melanoma: an emerging framework for targeted therapy. Pigment Cell Melanoma Res 2012; 25: 171-181.
31. Harbour WJ, Onken MD, Roberson EDO, et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 2010; 330: 1410-1413.
32. Wiesner T, Obenauf AC, Murali R, et al. Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet 2011; 43: 1018-1021.
33. 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: 856-859.
34. 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.
35. Prescher G, Bornfeld N, Hirche H, et al. Prognostic implications of monosomy 3 in uveal melanoma. Lancet 1996; 347: 1222-1225.
36. 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.
37. Shields CL, Materin MA, Teixeira L, et al. Small choroidal melanoma with chromosome 3 monosomy on fine-needle aspiration biopsy. Ophthalmology 2007; 114: 1919-1924.
38. Lake SL, Jmor F, Dopierala J, et al. 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: 5598-5604.
39. Spendiove HE, Damato BE, Humphreys J, et al. BRAF mutations are detectable in conjunctival but not uveal melanomas. Melanoma Res 2004; 14: 449-452.
40. Gear H, Williams H, Kemp EG, et al. BRAF mutations in conjunctival melanoma. Invest Ophthalmol Vis Sci 2004; 45: 2482-2488.
41. 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: 2032-2038.
42. Maat W, Kilic E, Luyten GPM, et al. Pyrophosphorolysis detects B-RAF mutations in primary uveal melanoma. Invest Ophthalmol Vis Sci 2008; 49: 23-27.
43. Bauer J, Büttner P, Murali R, et al. BRAF mutations in cutaneous melanoma are independently associated with age, anatomic site of the primary tumor and the degree of solar elastosis at the primary tumor site. Pigment Cell Melanoma Res 2011; 24: 345-351.
44. Gast A, Scherer D, Chen B, et al. Somatic alterations in the melanoma genoma: a high resolution array-based comparative genomic hybridization study. Genes Chromosom Cancer 2012; 49: 733-745.
45. Abdel-Rahman MH, Pilarski R, Massengill JB, et al. Melanoma candidate genes CDKNA2A/p16/INK4A, p14ARF, and CDK4 sequencing in patients with uveal melanoma with relative high-risk for hereditary cancer predisposition. Melanoma Res 2011; 21: 175-179.
46. Höglund 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 2004; 108: 57-65.
47. Maat W, van der Velden PA, Out-Luiting C, et al. Epigenetic inactivation of RASSF1a in uveal melanoma. Invest Ophthalmol Vis Sci 2007; 48: 486-490.
48. Bronkhorst IHG, Ly LV, Jordanova EK, et al. Detection of M2-macrophages in uveal melanoma and relation with survival. Invest Ophthalmol Vis Sci 2011; 52: 643-650.
49. Abdel-Rahman MH, Pilarski R, Ezzat S, et al. Cancer family history characterization in an unselected cohort of 121 patients with uveal melanoma. Fam Cancer 2010; 9: 431-438.
50. Weis E, Shah CP, Lajous M, et al. The association of cutaneous and iris nevi with uveal melanoma: a Meta-analysis. Ophthalmology 2009; 116: 536-543.
51. Tóth-Molnár E, Oláh J, Dobozy A, et al. Ocular pigmented findings in patients with dysplastic nevus syndrome. Melanoma Res 2004; 14: 43-47.
52. Tóth-Molnár E, Hammer H, Oláh J. Cutaneous dysplastic naevi in uveal melanoma patients: markers for prognosis? Melanoma Res 2000; 10: 36-39.
53. Hammer H, Tóth-Molnár E, Oláh J, et al. Connection between uveal melanoma and dysplastic naevus syndrome. Magy Onkol 2005; 49: 15-18.
54. Bataille V, Pinney E, Hungerford JL, et al. Five cases of coexistent primary ocular and cutaneous melanoma. Arch Dermatol 1993; 129: 198-201.
55. Testa JR, Cheung M, Pei J, et al. Germaine BAP1 mutation predispose to malignant mesothelioma. Nat Genet 2011; 43: 1022-1025.
56. Mural R, Wiesner T, Scolyer RA. Tumours associated with BAP1 syndrome. Pathology 2013; 45: 116-126.
57. Njauw JC, 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: e35295.
58. Wong SL, Balch CM, Hurley P, et al. Sentinel lymph node biopsy for melanoma: american Society of Clinical Oncology and Society of Surgical Oncology joint clinical practice guideline. J Clin Oncol 2012; 30: 2912-2918.