Analysis of GNAQ mutations, proliferation and MAPK pathway activation in uveal melanomas

• Type: Article in International Scientific Journal
• Date: 2011

Authors

Helena Populo (Author) Other; Joao Vinagre (Author) Other; Jose Manuel Lopes (Author) FMUP; Paula Soares (Author) FMUP

Journal

Title: British Journal of Ophthalmology

Vol. 95

Pages: 715-719

ISSN: 0007-1161

Publisher: BMJ PUBLISHING GROUP

Indexing

ISI Web of Knowledge - 34 Citations

Scopus - 39 Citations

Scientific classification

FOS: Medical and Health sciences > Clinical medicine

Other information

Authenticus ID: P-002-S2N

DOI: 10.1136/bjo.2009.174417

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 5