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

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

J Bauer  1 , E Kilic, J Vaarwater, B C Bastian, C Garbe, A de Klein
Affiliations

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

J Bauer et al. Br J Cancer. .

Abstract

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.

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Figures

Figure 1
Figure 1
Kaplan–Meier survival curve of tumours harbouring mutated vs wild-type GNAQ. The black line represents mutated, and the grey line represents wild type. The table shows the number of events and cases at risk over time at the respective time points.
Figure 2
Figure 2
Kaplan–Meier survival curve of GNAQ mutations vs wild type stratified for loss of chromosome 3. Black line represents mutated GNAQ, and the grey line represents wild type. The table shows the number of events and cases at risk over time at the respective time points.
See this image and copyright information in PMC

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