Clinical application of genetic testing for posterior uveal melanoma

Victoria J. Schopper, Zelia M. Correa

Research output: Contribution to journalReview articlepeer-review


Uveal melanoma is the most common primary intraocular tumor in adults, and it has a strong potential to metastasize. Traditionally, clinicopathological features of these tumors were used to provide a limited prediction of the metastatic risk. However, early genetic studies using karyotype analysis, fluorescence in situ hybridization, and comparative genetic hybridization of posterior uveal melanoma samples identified multiple chromosomal abnormalities associated with a higher risk of fatal metastasis. This correlation between specific genetic abnormalities in uveal melanoma and a patient's risk for development of metastasis has recently been widely studied, and the development of new prognostic tests has allowed clinicians to predict this metastatic risk with increased accuracy. Such novel tests include gene expression profiling, which analyzes the RNA expression patterns of tumor cells, and multiplex ligation-dependent probe amplification, which detects deletions or and amplifications of DNA in tumor cells. This review discusses the current status of prognostic testing techniques available to clinicians and patients for posterior uveal melanomas.

Original languageEnglish (US)
Article number4
JournalInternational Journal of Retina and Vitreous
Issue number1
StatePublished - Dec 12 2016
Externally publishedYes


  • Choroidal melanoma
  • GEP
  • Gene expression profiling
  • MLPA
  • Multiplex ligation-dependent probe amplification
  • Primary ocular tumors
  • Prognostic testing
  • Uveal melanoma

ASJC Scopus subject areas

  • Ophthalmology


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