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


CONCLUSIONS
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.
Bauer
J
J
Department of Dermatology, University of Tübingen Medical Center, Liebermeisterstr. 25, Tübingen 72076, Germany. mail@j-bauer.de
Kilic
E
E
Vaarwater
J
J
Bastian
B C
BC
Garbe
C
C
de Klein
A
A
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D055028:Comparative Genomic Hybridization; D018572:Disease-Free Survival; D005260:Female; D005500:Follow-Up Studies; D043802:GTP-Binding Protein alpha Subunits, Gq-G11 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008545:Melanoma / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D015999:Multivariate Analysis; D009154:Mutation / Q000235:genetics*; D014604:Uveal Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology
D043802:GTP-Binding Protein alpha Subunits, Gq-G11