Oncogenic GNAQ and GNA11 mutations in uveal melanoma in Chinese.

Abstract

PURPOSE:

To examine whether GNAQ and GNA11 somatic mutations previously identified in uveal melanomas of Caucasians are associated with uveal melanomas in Chinese patients.

METHODS:

Uveal melanomas treated by primary enucleation in Chinese patients underwent a mutation analysis of GNAQ and GNA11 with sequencing of exon 5 and exon 4.

RESULTS:

The study included 50 patients with uveal melanoma and with a mean age of 47.6±13.0 years. During the follow-up of at least 3 years, 20 (40%) patients developed extraocular metastases. The frequencies of GNAQ and GNA11 somatic mutations in uveal melanoma were 18% (9/50) and 20% (10/50), respectively. The mutations occurred exclusively in codon 209 of exon 5. No mutations were detected in exon 4. Mutations affecting codon 209 in GNAQ were c.626A>C(Q209P) (78%) and c.626A>T(Q209L) (22%). Mutations affecting codon 209 in GNA11 were exclusively c.626A>T(Q209L) (100%). In none of the tumors, mutations of BRAF and NRAS were detected. GNAQ/11 mutations were marginally (P = 0.045) associated with optic disc involvement. In Kaplan-Meier analysis, metastasis-free survival was not significantly (P = 0.94) associated with GNAQ/11 mutations.

CONCLUSIONS:

Mutations of GNAQ and GNA11 can be found in Chinese patients as in Caucasian patients with uveal melanoma, with a higher frequency reported for Caucasian patients.

• Authors: Xiaolin Xu, Wen Bin Wei, Bin Li, Fei Gao, Zhibao Zhang, Jost B Jonas
• Journal: PloS one (PLoS One) Vol. 9 Issue 10 Pg. e109699 ( 2014) ISSN: 1932-6203 [Electronic] United States
• PMID: 25280020 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• GNA11 protein, human
• GNAQ protein, human
• GTP-Binding Protein alpha Subunits
• GTP-Binding Protein alpha Subunits, Gq-G11

Topics

• Adult
• Aged
• Asian People (genetics)
• DNA Mutational Analysis
• Female
• Follow-Up Studies
• GTP-Binding Protein alpha Subunits (genetics)
• GTP-Binding Protein alpha Subunits, Gq-G11
• Humans
• Male
• Melanoma (genetics, mortality, pathology)
• Middle Aged
• Mutation (genetics)
• Neoplasm Staging
• Prognosis
• Survival Rate
• Uveal Neoplasms (genetics, mortality, pathology)
• Young Adult