Genetic Biomarkers in Melanoma of the Ocular Region: What the Medical Oncologist Should Know

Int J Mol Sci. 2020 Jul 23;21(15):5231. doi: 10.3390/ijms21155231.

Abstract

Melanoma of the ocular region (ocular melanoma) comprises about 5% of all patients with melanoma and covers posterior uveal melanoma, iris melanoma, and conjunctival melanoma. The risk of metastasis is much higher in patients with ocular melanoma compared to a primary melanoma of the skin. The subtypes of ocular melanoma have distinct genetic features, which should be taken into consideration when making clinical decisions. Most relevant for current practice is the absence of BRAF mutations in posterior uveal melanoma, although present in some iris melanomas and conjunctival melanomas. In this review, we discuss the genetic biomarkers of the subtypes of ocular melanoma and their impacts on the clinical care of these patients.

Keywords: BRAF mutation; conjunctival melanoma; genetic biomarkers; iris melanoma; ocular melanoma; posterior uveal melanoma.

Publication types

  • Review

MeSH terms

  • Humans
  • Melanoma* / enzymology
  • Melanoma* / genetics
  • Melanoma* / therapy
  • Mutation*
  • Proto-Oncogene Proteins B-raf* / genetics
  • Proto-Oncogene Proteins B-raf* / metabolism
  • Uveal Neoplasms* / enzymology
  • Uveal Neoplasms* / genetics
  • Uveal Neoplasms* / therapy

Substances

  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf

Supplementary concepts

  • Uveal melanoma