Evidence map›Paper›PMID 41387680›Full record

ArticleNature communications2025

Early genetic evolution of driver mutations in uveal melanoma.

James J Dollar, Christina L Decatur, Ezekiel Weis, Amy C Schefler, Miguel A Materin, Timothy S Fuller, Alison H Skalet, David A Reichstein, Ivana K Kim, Kisha D Piggott and 22 more

Abstract read
In one paragraph

Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Gene therapy for uveal melanoma.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026
    Review
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

32 authors.

James J DollarDepartment of Ophthalmology and Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.ORCID http://orcid.org/0000-0003-2416-4272
Christina L DecaturDepartment of Ophthalmology and Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.ORCID http://orcid.org/0000-0001-9125-1718
Ezekiel WeisDepartment of Ophthalmology, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.ORCID http://orcid.org/0000-0002-6862-0850
Amy C ScheflerRetina Consultants of Texas, Houston, TX, USA.
Miguel A MaterinDepartment of Ophthalmology, Duke University, Durham, NC, USA.
Timothy S FullerTexas Retina Associates, Dallas, TX, USA.
Alison H SkaletDepartment of Ophthalmology and Casey Eye Institute, Oregon Health and Science University, Portland, OR, USA.
David A ReichsteinTennessee Retina, Nashville, TN, USA.
Ivana K KimDepartment of Ophthalmology and Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0003-0310-6129
Kisha D PiggottDepartment of Ophthalmology and Visual Sciences, Washington University, St. Louis, MO, USA.
Hakan DemirciDepartment of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA.
Thomas A AabergRetina Specialists of Michigan, Grand Rapids, MI, USA.
Prithvi MruthyunjayaDepartment of Ophthalmology and Byers Eye Institute, Stanford University, Stanford, CA, USA.
Basil K WilliamsDepartment of Ophthalmology, University of Cincinnati, Cincinnati, OH, USA.
Eugene ShildkrotDepartment of Ophthalmology, University of Virginia, Charlottesville, VA, USA.ORCID http://orcid.org/0000-0003-0536-8528
Scott C N OliverDepartment of Ophthalmology and Sue Anschutz-Rodgers Eye Center, University of Colorado, Aurora, CO, USA.ORCID http://orcid.org/0000-0002-3654-6502
Devron H CharTumori Foundation, San Francisco, CA, USA.
Antonio CaponeAssociated Retina Consultants, Royal Oak, MI, USA.
John O MasonDepartment of Ophthalmology, University of Alabama, Birmingham, AL, USA.
Scott D WalterRetina Consultants, Hartford, CT, USA.
Michael M AltaweelDepartment of Ophthalmology, University of Wisconsin, Madison, WI, USA.
Jill R WellsDepartment of Ophthalmology, Emory University, Atlanta, GA, USA.
Dan S GombosSection of Ophthalmology, Department of Head and Neck Surgery, The University of Texas, MD Anderson Cancer Center, Houston, TX, USA.
Jay S DukerDepartment of Ophthalmology and New England Eye Center, Tufts University, Boston, MA, USA.
Peter G HovlandColorado Retina Associates, Denver, CO, USA.
Tony TsaiRetinal Consultants Medical Group, Sacramento, CA, USA.ORCID http://orcid.org/0000-0002-6733-9282
Cameron JavidRetina Associates, Tucson, AZ, USA.
Michael A DuranteDepartment of Ophthalmology and Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
Kyle R CovingtonCastle Biosciences, Friendswood, TX, USA.
Song ZhangO'Donnell School of Public Health, University of Texas Southwestern Medical Center, Dallas, TX, USA.ORCID http://orcid.org/0000-0002-9364-4053
Zelia M CorreaDepartment of Ophthalmology and Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
J William HarbourSimmons Comprehensive Cancer Center, University of Texas Southwestern Medical Center, Dallas, TX, USA. william.harbour@utsouthwestern.edu.ORCID http://orcid.org/0000-0002-1104-9809

Funding

UT Southwestern Medical Center Simmons Comprehensive Cancer CenterP30CA142543 · NCI · UT SOUTHWESTERN MEDICAL CENTER · PI Kathryn Ann O'Donnell · 2010 to 2026
$53.7M
Tumor Biology Research ProgramP30CA240139 · NCI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Stephen D. Nimer · 2019 to 2026
$24.1M
Proteomics CoreP30EY010572 · NEI · OREGON HEALTH & SCIENCE UNIVERSITY · PI John Peter Campbell · 1995 to 2026
$19.4M
Shared Equipment ModuleP30EY014801 · NEI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Victor L Perez · 2004 to 2026
$12.2M
Stem Cell, Organoid and Cell Phenotyping ModuleP30EY030413 · NEI · UT SOUTHWESTERN MEDICAL CENTER · PI W MATTHEW PETROLL · 2019 to 2026
$5.9M
MOLECULAR PREDICTIVE TESTING IN OCULAR MELANOMAR01CA125970 · NCI · WASHINGTON UNIVERSITY · PI CORREA, ZELIA MARIA, HARBOUR, JAMES WILLIAM · 2006 to 2021
$4.9M
Medical Scientist Training ProgramT32GM145462 · NIGMS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI ALESSIA FORNONI, Daniel Jon Liebl · 2022 to 2026
$3.9M
NCI NIH HHS P30 CA142543NCI NIH HHS P30 CA240139NCI NIH HHS R01 CA125970NEI NIH HHS P30 EY010572NEI NIH HHS P30 EY014801NEI NIH HHS P30 EY030413NIGMS NIH HHS T32 GM145462
6 · The paper itself

Abstract

Uveal melanoma (UM) is an aggressive eye cancer that frequently results in metastatic death despite successful primary tumor treatment. Subclinical micrometastasis is thought to occur early, when tumors are small and difficult to distinguish from benign nevi. However, the early genetic evolution of UM is poorly understood, and biomarkers for malignant transformation are lacking. Here, we perform integrated genetic profiling of 1140 primary UMs, including 131 small tumors. A clinically available 15-gene expression profile (15-GEP) prospectively validated by our group is more accurate than driver mutations for predicting patient survival. Small tumors are significantly more likely to be in earlier stages of genetic evolution than larger tumors. Further, the 15-GEP support vector machine discriminant score predicts small tumors undergoing transformation from low-risk Class 1 to high-risk Class 2 profile. These results shed light on the early genetic evolution of UM and move us closer to a molecular definition of malignant transformation in this cancer type.

Indexed as

Evolution, MolecularMelanomaMutationUveal NeoplasmsAdultAgedBiomarkers, TumorCell Transformation, NeoplasticFemaleGene Expression ProfilingGene Expression Regulation, NeoplasticHumansMaleMiddle AgedUveal MelanomaBiomarkers, Tumor

Identifiers

PMID41387680
PMCPMC12722419

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.