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Case Reports in Oncological Medicine
Volume 2018, Article ID 4256365, 5 pages
Case Report

GNQ-209P Mutation in Metastatic Uveal Melanoma and Treatment Outcome

1Department of Hematology-Oncology, University of Cincinnati, Cincinnati, OH, USA
2Department of Interventional Radiology, University of Cincinnati, Cincinnati, OH, USA
3Department of Ophthalmology, University of Cincinnati, Cincinnati, OH, USA

Correspondence should be addressed to Ihab Eldessouki; moc.oohay@led_bahi

Received 28 November 2017; Accepted 11 March 2018; Published 4 April 2018

Academic Editor: Raffaele Palmirotta

Copyright © 2018 Nagla Abdel Karim et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Metastatic prognosis in uveal melanoma is assessed by gene expression profiling (GEP) testing of the tumor cells, usually obtained by fine needle aspiration (FNA). GEP has demonstrated high accuracy in distinguishing class I and II tumors, both having different metastatic potential. Transcriptomic studies identified distinct mutations including somatic mutations in GNAQ and GNA11, detected in more than 80%, and contribute to the upregulation of the mitogen-activated protein kinase (MAPK) pathway and the development of uveal melanoma (UM). The role of these mutations in treatment selection and possible benefit from targeted therapy are somewhat unclear. However, until the discovery of novel agents, local versus systemic therapies remain options for treatment that can still be considered for disease control in certain cases. We report a series of patients with metastatic UM with distinct mutational profiles. One had significant liver metastases with proven GNQ-209P mutation on tissue biopsy while peripheral blood molecular profiling did not show these mutations. The other three cases had no GNQ-209P mutation. All cases received nab-paclitaxel (Abraxane) as a treatment drug, and we record their responses to treatment and their molecular-profiling results.