Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11

A E Koopmans, J Vaarwater, D Paridaens, N C Naus, E Kilic, A de Klein, Rotterdam Ocular Melanoma Study Group

Research output: Contribution to journalArticleResearchpeer-review

Abstract

BACKGROUND: Mutations in GNAQ and GNA11, encoding the oncogenic G-protein alpha subunit q and 11, respectively, occur frequently in the majority of uveal melanomas.

METHODS: Exons 4 and 5 from GNAQ and GNA11 were amplified and sequenced from 92 ciliary body and choroidal melanomas. The mutation status was correlated with disease-free survival (DFS) and other parameters.

RESULTS: None of the tumours harboured a GNAQ exon 4 mutation. A GNAQ mutation in exon 5 codon 209 was found in 46 out of 92 (50.0%) of the tumours. Only 1 out of 92 (1.1%) melanomas showed a mutation in GNA11 exon 4 codon 183, whereas 39 out of 92 (42.4%) harboured a mutation in exon 5 of GNA11 codon 209. Six tumours did not show any mutations in exons 4 and 5 of these genes. Univariate analyses showed no correlation between DFS and the mutation status.

CONCLUSION: GNAQ and GNA11 mutations are, in equal matter, not associated with patient outcome.

Original languageEnglish
Pages (from-to)493-6
Number of pages4
JournalBritish Journal of Cancer
Volume109
Issue number2
DOIs
Publication statusPublished - 23 Jul 2013

Keywords

  • Adult
  • Aged
  • Aged, 80 and over
  • DNA Mutational Analysis
  • Female
  • GTP-Binding Protein alpha Subunits/genetics
  • GTP-Binding Protein alpha Subunits, Gq-G11
  • Humans
  • Male
  • Melanoma/genetics
  • Middle Aged
  • Mutation/physiology
  • Oncogenes
  • Survival Analysis
  • Uveal Neoplasms/genetics
  • Young Adult

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