A molecular revolution in uveal melanoma: implications for patient care and targeted therapy

Ophthalmology. 2014 Jun;121(6):1281-8. doi: 10.1016/j.ophtha.2013.12.014. Epub 2014 Jan 28.


Uveal melanoma is the most common primary intraocular malignancy and has a strong propensity for fatal metastasis. Recent advances in the molecular genetics of uveal melanoma are revolutionizing our understanding of this cancer and the care of patients. The development of a new molecular classification of uveal melanoma based on a widely available 15-gene expression profile now allows patients at high risk of metastasis to be identified early so that individualized management can be offered. The recent discovery of major driver mutations in uveal melanoma provide a rational basis for development of new targeted therapies. Taken together, these advances are transforming our understanding and management of uveal melanoma with the ultimate goal of improving patient outcomes.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Antineoplastic Agents / administration & dosage
  • DNA Mutational Analysis
  • DNA, Neoplasm / genetics*
  • GTP-Binding Protein alpha Subunits / genetics
  • GTP-Binding Protein alpha Subunits, Gq-G11
  • Gene Expression Profiling
  • Humans
  • Melanoma / classification
  • Melanoma / genetics*
  • Melanoma / therapy*
  • Molecular Targeted Therapy*
  • Mutation
  • Neoplasm Proteins / genetics*
  • Oligonucleotide Array Sequence Analysis
  • Patient Care*
  • Phosphoproteins / genetics
  • RNA Splicing Factors
  • Ribonucleoprotein, U2 Small Nuclear / genetics
  • Tumor Suppressor Proteins / genetics
  • Ubiquitin Thiolesterase / genetics
  • Uveal Neoplasms / classification
  • Uveal Neoplasms / genetics*
  • Uveal Neoplasms / therapy*


  • Antineoplastic Agents
  • BAP1 protein, human
  • DNA, Neoplasm
  • GNA11 protein, human
  • GNAQ protein, human
  • GTP-Binding Protein alpha Subunits
  • Neoplasm Proteins
  • Phosphoproteins
  • RNA Splicing Factors
  • Ribonucleoprotein, U2 Small Nuclear
  • SF3B1 protein, human
  • Tumor Suppressor Proteins
  • Ubiquitin Thiolesterase
  • GTP-Binding Protein alpha Subunits, Gq-G11

Supplementary concepts

  • Uveal melanoma