Oncogenic GNAQ mutations are not correlated with disease-free survival in uveal melanoma

Br J Cancer. 2009 Sep 1;101(5):813-5. doi: 10.1038/sj.bjc.6605226. Epub 2009 Aug 4.


Background: Recently, oncogenic G protein alpha subunit q (GNAQ) mutations have been described in about 50% of uveal melanomas and in the blue nevi of the skin.

Methods: GNAQ exon 5 was amplified from 75 ciliary body and choroidal melanoma DNAs and sequenced directly. GNAQ mutation status was correlated with disease-free survival (DFS), as well as other clinical and histopathological factors, and with chromosomal variations detected by FISH and CGH.

Results: Of the 75 tumour DNA samples analysed, 40 (53.3%) harboured oncogenic mutations in GNAQ codon 209. Univariate and multivariate analysis showed that GNAQ mutation status was not significantly correlated with DFS.

Conclusion: The GNAQ mutation status is not suitable to predict DFS. However, the high frequency of GNAQ mutations may render it a promising target for therapeutic intervention.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Comparative Genomic Hybridization
  • Disease-Free Survival
  • Female
  • Follow-Up Studies
  • GTP-Binding Protein alpha Subunits, Gq-G11 / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Melanoma / diagnosis*
  • Melanoma / genetics*
  • Melanoma / pathology
  • Middle Aged
  • Multivariate Analysis
  • Mutation / genetics*
  • Uveal Neoplasms / diagnosis*
  • Uveal Neoplasms / genetics*
  • Uveal Neoplasms / pathology


  • GTP-Binding Protein alpha Subunits, Gq-G11