TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours

Br J Cancer. 2013 Jul 23;109(2):497-501. doi: 10.1038/bjc.2013.312. Epub 2013 Jun 25.


Background: Recently, activating mutations in the TERT promoter were identified in cutaneous melanoma. We tested a cohort of ocular melanoma samples for similar mutations.

Methods: The TERT promoter region was analysed by Sanger sequencing in 47 uveal (ciliary body or choroidal) melanomas and 38 conjunctival melanomas.

Results: Mutations of the TERT promoter were not identified in uveal melanomas, but were detected in 12 (32%) conjunctival melanomas. Mutations had a UV signature and were identical to those found in cutaneous melanoma.

Conclusion: Mutations of TERT promoter with UV signatures are frequent in conjunctival melanomas and favour a pathogenetic kinship with cutaneous melanomas. Absence of these mutations in uveal melanomas emphasises their genetic distinction from cutaneous and conjunctival melanomas.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Cohort Studies
  • Conjunctival Neoplasms / diagnosis*
  • Conjunctival Neoplasms / genetics
  • Diagnosis, Differential
  • Female
  • GTP Phosphohydrolases / genetics
  • Genetic Association Studies
  • Humans
  • Male
  • Melanoma / diagnosis*
  • Melanoma / genetics
  • Membrane Proteins / genetics
  • Mutation
  • Promoter Regions, Genetic / genetics*
  • Proto-Oncogene Proteins B-raf / genetics
  • Telomerase / genetics*
  • Uveal Neoplasms / diagnosis*
  • Uveal Neoplasms / genetics


  • Membrane Proteins
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf
  • TERT protein, human
  • Telomerase
  • GTP Phosphohydrolases
  • NRAS protein, human

Supplementary concepts

  • Uveal melanoma