Article Text

Download PDFPDF
Original article
Analysis of GNAQ mutations, proliferation and MAPK pathway activation in uveal melanomas
  1. Helena Pópulo1,2,
  2. João Vinagre1,2,3,
  3. José Manuel Lopes1,2,4,
  4. Paula Soares1,2
  1. 1Institute of Molecular Pathology and Immunology, University of Porto (IPATIMUP), Porto, Portugal
  2. 2Medical Faculty, University of Porto, Porto, Portugal
  3. 3Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, Porto, Portugal
  4. 4Department of Pathology, Hospital São João, Porto, Portugal
  1. Correspondence to Dr Paula Soares, IPATIMUP, Rua Dr Roberto Frias s/n, 4200-465 Porto, Portugal; psoares{at}


Aim To study the GNAQ mutational status in a series of uveal melanomas and evaluate possible associations with mitogen-activated protein kinase (MAPK) pathway protein expression and tumour proliferation markers.

Methods Mutational analysis was performed by PCR/sequencing of exon 5 of the GNAQ gene in a series of 22 uveal melanomas in which total and phosphorylated extracellular signal-regulated kinase (ERK) 1/2 overexpression without coexistent BRAF and NRAS mutations had previously been observed. Expression of the cell cycle markers (Ki-67, cyclin D1 and p27) was evaluated by immunohistochemistry. The association between GNAQ mutational status, ERK1/2, phospho-ERK1/2, Ki-67, cyclin D1 and p27 expression levels and the clinicopathological prognostic parameters of uveal melanomas was also assessed.

Results GNAQ mutations were found in 36% of uveal melanomas. No associations were found between the GNAQ mutational status and prognostic parameters, the expression of ERK1/2, pERK1/2 and cell cycle markers.

Conclusion The results of this study suggest that GNAQ mutated uveal melanomas do not exhibit a higher deregulation of proliferation or higher activation of the MAPK signalling pathway than uveal melanomas without GNAQ overactivation.

  • Choroids
  • genetics
  • GNAQ
  • MAPK pathway
  • neoplasia
  • pathology
  • uveal melanoma

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.


  • Linked articles 182097.

  • Funding This study was supported by the Portuguese Foundation for Science and Technology through a PhD grant to HP (ref SFRH/BD/31369/2006) and project PTDC/SAU-OBD/69787/2006 (project 3599/PPCDT).

  • Competing interests None.

  • Provenance and peer review Not commissioned; externally peer reviewed.

Linked Articles