Scientific Evidence

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.

Author: Plasseraud KM, et al.

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.

Author: Yavuzyigitoglu S, et al.

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 GNAQGNA11, and PLCB4 but in 0 of 127 samples that harbored mutations in these genes. 

Author: Moore AR, et al.

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.

Author: Field MG, et al.

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: GNAQGNA11EIF1AXSF3B1 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). 

Author: Johansson P, et al.

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.

Author: Correa ZM, et al.

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.

Author: Gupta MP, et al.

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.

Author: Shoushtari AN, et al.

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.

Author: Aaberg TM, et al.

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 GNAQGNA11SF3B1EIF1AX, 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.

Author: Ewens KG, et al.

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.

Author: Field MG, et al.

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.

Author: Correa ZM, et al.

Publication: Graefes Arch Clin Exp Ophthalmol