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Mechanisms of Molecular Carcinogenesis – Volume 1 pp 151–174Cite as

Molecular Carcinogenesis of Uveal Melanoma

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Abstract

Melanocytes are derived from the neural crest and enter the eye during embryogenesis. Uveal melanoma of the eye is a rare but deadly disease. About 50% of patients will eventually develop metastatic disease with an inevitable fatal end. Predisposing factors are race, skin and hair color, and familial tumor predisposition syndromes.

Although clinically uveal melanoma phenotype gives the impression of one disease, genetically uveal melanoma can be classified into at least two subgroups which can be distinguished by DNA-based and mRNA-based technologies. While patients with disomy 3 and gene expression profile class 1 have only a low risk of developing metastatic disease, patients with monosomy 3 and/or class 2 gene expression profile are likely to die from metastases. In addition to prognostic information, genetic testing also provides new insights into molecular pathobiology of uveal melanoma. Mutations in GNAQ, GNA11, and BAP1 have been found to be the crucial steps in tumor development.

Those insights raise the hope for targeted therapies and improved prognoses for uveal melanoma patients in the near future.

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Authors and Affiliations

  1. Department of Ophthalmology, Medical University Graz, Graz, Austria

    Werner Wackernagel, Lisa Tarmann & Gerald Langmann

  2. Department of Ophthalmic Oncology, Cleveland Clinic Foundation, Cole Eye Insitute, Cleveland, OH, USA

    Arun D. Singh

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  1. Werner Wackernagel
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  1. Department of Pathology, Medical Faculty, Otto von Guericke University Magdeburg, Magdeburg, Germany

    Johannes Haybaeck

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Wackernagel, W., Tarmann, L., Langmann, G., Singh, A.D. (2017). Molecular Carcinogenesis of Uveal Melanoma. In: Haybaeck, J. (eds) Mechanisms of Molecular Carcinogenesis – Volume 1. Springer, Cham. https://doi.org/10.1007/978-3-319-53659-0_9

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