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Clinical performance and management outcomes with the DecisionDx-UM gene expression profile test in a prospective multicenter study
Jun 2016
Uveal melanoma management is challenging due to its metastatic propensity. DecisionDx-UM is a prospectively validated molecular test that interrogates primary tumor biology to provide objective information about metastatic potential that can be used in determining appropriate patient care. To evaluate the continued clinical validity and utility of DecisionDx-UM, beginning March 2010, 70 patients were enrolled in a prospective, multicenter, IRB-approved study to document patient management differences and clinical outcomes associated with low-risk Class 1 and high-risk Class 2 results indicated by DecisionDx-UM testing.
Publication: Journal of Oncology
Uveal melanomas with SF3B1 mutations: a distinct subclass associated with late-onset metastases
May 2016
To investigate the prevalence and prognostic value of SF3B1 and EIF1AX mutations in uveal melanoma (UM) patients.
Publication: Ophthalmology
Recurrent activating mutations of G-protein-coupled receptor CYSLTR2 in uveal melanoma
Apr 2016
We analyzed genomics data from 136 uveal melanoma samples and found a recurrent mutation in CYSLTR2 (cysteinyl leukotriene receptor 2) encoding a p.Leu129Gln substitution in 4 of 9 samples that lacked mutations in GNAQ, GNA11, and PLCB4 but in 0 of 127 samples that harbored mutations in these genes.
Publication: Nature Genetics
PRAME as an independent biomarker for metastasis in uveal melanoma
Mar 2016
Uveal melanoma (UM) can be classified by gene expression profiling (GEP) into Class 1 (low metastatic risk) and Class 2 (high metastatic risk), the latter being strongly associated with mutational inactivation of the tumor suppressor BAP1. Nevertheless, a small percentage of Class 1 tumors give rise to metastatic disease. The purpose of this study was to identify biomarkers of metastasis in Class 1 tumors.
Publication: Clinical Cancer Research
Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4
Dec 2015
Next generation sequencing of uveal melanoma (UM) samples has identified a number of recurrent oncogenic or loss-of-function mutations in key driver genes including: GNAQ, GNA11, EIF1AX, SF3B1 and BAP1. To search for additional driver mutations in this tumor type we carried out whole-genome or whole-exome sequencing of 28 tumors or primary cell lines. These samples have a low mutation burden, with a mean of 10.6 protein changing mutations per sample (range 0 to 53).
Publication: Oncotarget
Independent prognostic significance of gene expression profile class and largest basal diameter of posterior uveal melanomas
Nov 2015
Purpose: To determine whether any conventional clinical prognostic factors for metastasis from uveal melanoma retain prognostic significance in multivariate models incorporating gene expression profile (GEP) class of the tumor cells.
Publication: American Journal of Ophthalmology
Clinical characteristics of uveal melanoma in patients with germline BAP1 mutations
Aug 2015
Somatic mutations in BAP1 (BRCA1-associated protein 1 gene) are frequently identified in uveal melanoma. To date, the role of germline BAP1 mutations in uveal melanoma has not been characterized.
Publication: JAMA Ophthalmology
GNAQ and GNA11 mutations in uveal melanoma
Dec 2014
This review will discuss the multiple activated signaling targets downstream of mutant GNAQ and GNA11 in uveal melanoma, including MEK, PI3-kinase/Akt, protein kinase C, and YAP. This knowledge has led to the rapid expansion of clinical trials that are specific to patients with uveal melanoma and promises future breakthroughs in therapies.
Publication: Melanoma Res
Current clinical practice: differential management of uveal melanoma in the era of molecular tumor analyses
Dec 2014
Assess current clinical practices for uveal melanoma (UM) and the impact of molecular prognostic testing on treatment decisions.
Publication: Clin Ophthalmol
Chromosome 3 status combined with BAP1 and EIF1AX mutation profiles are associated with metastasis in Uveal Melanoma
Aug 2014
Somatic mutations in GNAQ, GNA11, SF3B1, EIF1AX, and BAP1 have been identified in uveal melanoma (UM). The aim of this study was to determine whether mutations in these genes in primary tumors were associated with metastases in individuals diagnosed with UM.
Publication: Investigative Ophthalmology & Visual Science
Recent developments in prognostic and predictive testing in uveal melanoma
May 2014
Purpose of review: To provide an update on the rapidly evolving methods for assessing prognosis and predicting response to targeted molecular therapy in uveal melanoma.
Publication: Curr Opin Ophthalmol
Sufficiency of FNAB aspirates of posterior uveal melanoma for cytologic versus GEP classification in 159 patients, and relative prognostic significance of these classifications
Nov 2013
To determine the relative sufficiency of paired aspirates of posterior uveal melanomas obtained by FNAB for cytopathology and GEP, and their prognostic significance for predicting death from metastasis.
Publication: Graefes Arch Clin Exp Ophthalmol