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Scientific Evidence
Molecular research in uveal melanoma: ushering in a new standard of care
Jan 2022
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.
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.
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.
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.
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).
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.
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.
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.
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): BAP1, EIF1AX, GNA11, GNAQ, and SF3B1. Understanding the prognostic significance of these mutations could facilitate their use in precision medicine.
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.
Publication: JAMA Ophthalmol.