Uveal MelanomaRSS

Last Updated: August 14, 2017

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What is uveal melanoma?

Uveal melanoma develops in the pigment cells of the uvea, which is the middle layer of the eye. The uvea consists of three main parts: the iris, ciliary body, and choroid. Compared to tumors of the iris, tumors of the ciliary body and choroid tend to be larger and more likely to spread to other parts of the body. TCGA is studying tumors from all three parts of the uvea.

Although uveal melanoma is rare, it is the most common eye cancer in adults.1 In the United States, approximately 1,700 people are diagnosed each year.2 When uveal melanoma becomes metastatic (spreads to other parts of the body), almost all patients die within one year.2 Individuals who are Caucasian, are older, have fair skin that tans easily, or have light eye color tend to be more at risk of uveal melanoma.3

View additional information on melanoma.

Uveal melanoma is part of an effort to characterize rare tumor types. Read more about the Rare Tumor Projects.

TCGA researchers have:

  • Comprehensively analyzed 80 uveal melanoma tumors and confirmed previous research findings, such as the clinical significance of the monosomy 3 (M3) and disomy 3 (D3) subtypes

  • Employed novel DNA-seq and RNA-seq assembly methods to identify long and complex alterations to the BAP1 gene

  • Characterized the importance of BAP1 mutations in M3, metastasis-prone, uveal melanoma:

    • 83.3% of M3 tumors studied harbor an alteration to BAP1

    • BAP1 mutated tumors are associated with a unique global DNA methylation profile

    • Though BAP1 mutations may be acquired early on during cancer development, the altered gene may also play a key role during later genetic events driving metastasis

  • Determined that uveal melanoma is molecularly distinct from cutaneous melanoma, with a lower somatic mutation density, no ultraviolet radiation mutational signature, and a discrete set of significantly mutated genes
  • Determined the gene expression patterns and molecular pathways associated with differential time to metastasis

  • Assessed how distinct global DNA methylation profiles, copy number alterations, and cellular pathway activity profiles can distinguish certain subtypes of the cancer

See more about TCGA's study on uveal melanoma.

Where can I find more information about the TCGA Research Network’s studies or studies using TCGA data?

View a list of TCGA scientific publications.

Where can I find clinical trials to treat uveal melanoma that are supported by the National Cancer Institute (NCI)?

View a list of NCI-supported uveal melanoma clinical trials that are now accepting patients.

Selected References 

1 Nagarkatti-Gude N, Wang Y, Ali MJ, Honavar SG, Jager MJ, and Chan CC. (2012) Genetics of primary intraocular tumors. Ocul Immunol Inflamm. 20(4): 244-254. doi: 10.3109/09273948.2012.702843 Read the full article.  

2 Singh, A.D., Turell, M.E., and Topham, A.K. (2011) Uveal melanoma: Trends in incidence, treatment, and survival. Ophthalmology. 118(9): 1881-1885. doi: 10.1016/j.ophtha.2011.01.040. View PubMed abstract.

3 Intraocular (Uveal) Melanoma Treatment (PDQ®). (2012) The National Cancer Institute. Read the full article.