Scientific Evidence

Molecular research in uveal melanoma: ushering in a new standard of care

Jan 2022

Author: Harbour JW, et al.

Publication: Retina Times

Instrument gauge and type in uveal melanoma fine needle biopsy: implications for diagnostic yield and molecular prognostication

Aug 2020

Purpose: To systematically evaluate and compare the effects of using small-gauge needles and vitrectors on the ability to obtain adequate diagnostic and prognostic uveal melanoma biopsy specimens.

Author: Klofas LK, et al.

Publication: American Journal of Ophthalmology

Gene expression profiling in uveal melanoma: five-year prospective outcomes and meta-analysis

Jul 2020

The prognostic 15-gene expression profile (15-GEP) test for uveal melanoma (UM) predicts metastatic risk based on primary tumor biology. Here we report outcomes from a prospective registry of 15-GEP-tested patients, and a meta-analysis with published cohorts.

Author: Aaberg TM, et al.

Publication: Ocul Oncol Pathol

Gene expression profiling prognostication of posterior uveal melanoma

Jun 2020

Investigate the influence of tumor size by American Joint Committee on Cancer (AJCC) stage, Collaborative Ocular Melanoma Study (COMS) size, tumor largest basal diameter (LBD), and tumor thickness on prognostication by gene expression profiling (GEP) class.

Author: Binkley EM, et al.

Publication: Ophthalmology Retina

Prospective evaluation of risk-appropriate management of uveal melanoma patients informed by gene expression profiling

Mar 2020

The multicenter Clinical Application of DecisionDx-UM Gene Expression Assay Results study provides prospective validation of the clinical utility of the 15-gene expression profile test in directing metastatic surveillance imaging, follow-up and referral patterns.

Publication: Melanoma Management

Next-generation sequencing of uveal melanoma for detection of genetic alterations predicting metastasis

Apr 2019

Purpose: To clinically use the UCSF500, a pancancer, next-generation sequencing assay in uveal melanoma (UM) and to correlate results with gene expression profiling (GEP) and predictive factors for metastasis.

Author: Afshar AR, et al.

Publication: Translational Vision Science & Technology

Gene expression profiling and PRAME status versus tumor-node-metastasis staging for prognostication in uveal melanoma

Aug 2018

To compare the prognostic accuracy of gene expression profiling (GEP) combined with PRAME status versus the clinical Tumor-Node-Metastasis (TNM) staging in patients with uveal melanoma (UM).

Author: Cai L, et al.

Publication: Am J Ophthalmol

Do largest basal tumor diameter and the American Joint Committee on Cancer's cancer staging influence prognostication by gene expression profiling in choroidal melanoma

Aug 2018

Purpose: to evaluate the prognostication of choroidal melanoma (CM) by the gene expression profiling (GEP) test.

Author: Demirci H, et al.

Publication: American Journal of Ophthalmology

Gene expression profiling in uveal melanoma: technical reliability and correlation of molecular class with pathologic characteristics

Aug 2017

A 15-gene expression profile test has been clinically validated and is widely utilized in newly diagnosed uveal melanoma (UM) patients to assess metastatic potentila of the tumor. As most patients are treated with eye-sparing rediotherapy, there is limited tumor tissue available for testing, and technical reliability and success of prognostic testing are critical. This study assessed the analytical performance of the 15-gene expression test for UM and the correlation of molecular class with pathologic characteristics.

Author: Plasseraud KM, et al.

Publication: Diagnostic Pathology

Epigenetic reprogramming and aberrant expression of PRAME are associated with increased metastatic risk in class 1 and class 2 uveal melanomas

Jul 2016

We previously identified PRAME as a biomarker for metastatic risk in Class 1 uveal melanomas. In this study, we sought to define a threshold value for positive PRAME expression (PRAME+) in a large dataset, identify factors associated with PRAME expression, evaluate the prognostic value of PRAME in Class 2 uveal melanomas, and determine whether PRAME expression is associated with aberrant hypomethylation of the PRAME promoter.

Author: Field MG, et al.

Publication: Oncotarget

Driver mutations in uveal melanoma: associations with gene expression profile and patient outcomes

Jul 2016

Frequent mutations have been described in the following 5 genes in uveal melanoma (UM): BAP1EIF1AXGNA11GNAQ, and SF3B1. Understanding the prognostic significance of these mutations could facilitate their use in precision medicine.

Author: Decatur CL, et al.

Publication: JAMA Ophthalmol

Prognostic implications of tumor diameter in association with gene expression profile for uveal melanoma

Jul 2016

Uveal melanoma (UM) can be divided into prognostically significant subgroups based on a prospectively validated and widely used 15-gene expression profile (GEP) test. Class 1 UMs have a low risk and class 2 UMs have a high risk for metastasis.

Author: Walter SD, et al.

Publication: JAMA Ophthalmol.