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

  title={GNQ-209P Mutation in Metastatic Uveal Melanoma and Treatment Outcome},
  author={Nagla Abdel Karim and Ihab Eldessouki and Ahmad Taftaf and Deeb Ayham and Ola Gaber and Abouelmagd Makramalla and Z{\'e}lia Maria Corr{\^e}a},
  journal={Case Reports in Oncological Medicine},
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… 

Figures and Tables from this paper

Molecular and genetic diversity in melanoma of eye
Genetic analysis reveals wide diversity of melanoma of eye and is important for it characterization and treatment.
Mutations of GNAQ, GNA11, SF3B1, EIF1AX, PLCB4 and CYSLTR in Uveal Melanoma in Chinese Patients
The mutations in GNAQ, GNA11 and EIF1AX were not associated with metastasis, whereas SF3B1 mutations were correlated with low risk of metastasis and demonstrated a protective effect in UM patients in China.
Uveal Melanoma Cell Line Proliferation Is Inhibited by Ricolinostat, a Histone Deacetylase Inhibitor
Evaluating the efficacy of ACY-1215, a histone deacetylase inhibitor (HDACi), to attenuate growth of primary ocular uveal melanoma cell lines and, in particular, a liver MUM cell line in vitro and in vivo, and elucidate the underlying molecular mechanisms provides evidence that ACy- 1215 and ML329 are efficacious against growth and survival of OMM2.5 MUM cells.
Genomics and Interventional Oncology in Metastatic Liver Cancer
This review aims to investigate the current literature on genetic and genomic biomarkers of locoregional interventions on metastatic liver metastases and how they relate to posttreatment survival and outcomes.
Papillary renal cell carcinoma: what is missing in research? A case report and a review of literature
A case of metastatic type I papillary renal cell carcinoma treated with the anti-vascular endothelial growth factor receptor sunitinib and showing marked long-term clinical response is discussed, highlighting the importance of re-classifying papillary kidneys cell carcinomas subtypes to prioritize the clinical management of these cases.
Impact of tricyclic antidepressants, selective serotonin reuptake inhibitors, and other antidepressants on overall survival of patients with advanced lung cancer from 2004 to 2014: University of Cincinnati experience
It is found that there is no significant survival benefit for TCA use in combination with anti-cancer agents in NSCLC patients.
Retrospective Study of the Effect of Statins on the Outcome of Lung Cancer Patients, University of Cincinnati Experience
The results show that after different types of adjustments, S+ did not show survival advantage compared to the control arm and while showing an increase in overall survival in patients with advanced lung cancer, the results did not reach statistical significance.
Targeting Mutant KRAS for Anticancer Therapy.
This work highlights the emerging therapeutic approaches for inhibiting KRAS signaling and blocking KRAS functions, in hope to serve as a more effective guideline for future development of therapeutics.


Oncogenic GNAQ mutations are not correlated with disease-free survival in uveal melanoma
The GNAQ mutation status is not suitable to predict disease-free survival (DFS), however, the high frequency of GNAZ mutations may render it a promising target for therapeutic intervention.
Oncogenic mutations in GNAQ occur early in uveal melanoma.
GNAQ mutations occur in about half of UMs, representing the most common known oncogenic mutation in this cancer, and provide new insights into UM pathogenesis and could lead to new therapeutic possibilities.
Mutations in GNA11 in uveal melanoma.
Constitutive activation of the pathway involving these two genes appears to be a major contributor to the development of uveal melanoma.
Biology of advanced uveal melanoma and next steps for clinical therapeutics
The current understanding of the molecular and immunobiology of uveal melanoma is reviewed, and on‐going laboratory research into the disease is highlighted, and recent investigations relevant to clinical management via targeted and immunotherpies are reviewed.
The Mayo Clinic experience with the use of kinase inhibitors, ipilimumab, bevacizumab, and local therapies in the treatment of metastatic uveal melanoma
Overall survival rates were compared and data suggest that survival was improved in patients who were amenable to LTs; however, they had better prognostic markers at diagnosis of metastatic disease.
Molecular Pathways Mediating Liver Metastasis in Patients with Uveal Melanoma
New insights are described into the genetic and molecular pathways that may play a role in the development of liver metastases in uveal melanoma patients.
Metastatic melanoma from intraocular primary tumors: the Southwest Oncology Group experience in phase II advanced melanoma clinical trials.
Patients with advanced ocular or nonocular melanoma have similar response rates and survival in this series of cooperative group phase II trials and should not be excluded from investigational studies in advanced melanoma.
Metastatic melanoma to the liver: A contemporary and comprehensive review of surgical, systemic, and regional therapeutic options
In conclusion, hepatic resection offers the possibility of long‐term survival in carefully selected patients with liver‐limited metastases from melanoma and in patients with unresectable cutaneous melanoma, effective systemic therapy is the best treatment option.
Nab-paclitaxel in patients with metastatic melanoma
The role of nab-paclitaxel in the management of patients with advanced melanoma is summarized, which shows it continues to play a role in the salvage treatment of patients that have become refractory to immune-based or targeted therapies.
Assessment of metastatic disease status at death in 435 patients with large choroidal melanoma in the Collaborative Ocular Melanoma Study (COMS): COMS report no. 15.
Detailed mortality coding following a standard protocol provides the most accurate reporting to date of disease-related mortality in patients with choroidal melanoma and also identifies difficulties.