Evidence map›Paper›PMID 34997020›Full record

ArticleScientific reports2022

Genome-wide aberrant methylation in primary metastatic UM and their matched metastases.

Kyra N Smit, Ruben Boers, Jolanda Vaarwater, Joachim Boers, Tom Brands, Hanneke Mensink, Robert M Verdijk, Wilfred F J van IJcken, Joost Gribnau, Annelies de Klein and 1 more

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
5.1field-weighted citation impact, top 4% of its field
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

23 citing papers in PubMed, 26 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. New perspectives on DNA methylation modifications in ocular diseases.International journal of ophthalmology · 2025
    Review
  11. Review
  12. Review
  13. Article
  14. Review
  15. Pathological and Molecular Diagnosis of Uveal Melanoma.Diagnostics (Basel, Switzerland) · 2024
    Review
  16. Machine Learning Methods for Gene Selection in Uveal Melanoma.International journal of molecular sciences · 2024
    Article
  17. Review
  18. Review
  19. Review
  20. Cancers · 2022
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 4 institutions in 1 country.

Kyra N SmitDepartment of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.
Ruben BoersOncode Institute, Department of Developmental Biology, Erasmus MC, Rotterdam, The Netherlands.
Jolanda VaarwaterDepartment of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.
Joachim BoersOncode Institute, Department of Developmental Biology, Erasmus MC, Rotterdam, The Netherlands.
Tom BrandsDepartment of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
Hanneke MensinkThe Rotterdam Eye Hospital, Rotterdam, The Netherlands.
Robert M VerdijkDepartment of Pathology, Section Ophthalmic Pathology, Erasmus MC, Rotterdam, The Netherlands.
Wilfred F J van IJckenCenter for Biomics, Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands.
Joost GribnauOncode Institute, Department of Developmental Biology, Erasmus MC, Rotterdam, The Netherlands.
Annelies de KleinDepartment of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
Emine KilicDepartment of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands. e.kilic@erasmusmc.nl.
Erasmus MC · NLErasmus University Rotterdam · NLOncode Institute · NLRotterdam Eye Hospital · NL

Funding

Stichting Combined Ophthalmic Research Rotterdam 4.2.0
6 · The paper itself

Abstract

Uveal melanoma (UM) is an aggressive intra-ocular cancer with a strong tendency to metastasize. Metastatic UM is associated with mutations in BAP1 and SF3B1, however only little is known about the epigenetic modifications that arise in metastatic UM. In this study we aim to unravel epigenetic changes contributing to UM metastasis using a new genome-wide methylation analysis technique that covers over 50% of all CpG's. We identified aberrant methylation contributing to BAP1 and SF3B1-mediated UM metastasis. The methylation data was integrated with expression data and surveyed in matched UM metastases from the liver, skin and bone. UM metastases showed no commonly shared novel epigenetic modifications, implying that epigenetic changes contributing to metastatic spreading and colonization in distant tissues occur early in the development of UM and epigenetic changes that occur after metastasis are mainly patient-specific. Our findings reveal a plethora of epigenetic modifications in metastatic UM and its metastases, which could subsequently result in aberrant repression or activation of many tumor-related genes. This observation points towards additional layers of complexity at the level of gene expression regulation, which may explain the low mutational burden of UM.

Indexed as

DNA Mutational AnalysisEpigenesis, GeneticGene Expression Regulation, NeoplasticHumansMelanomaMethylationNeoplasm MetastasisPhosphoproteinsRNA Splicing FactorsTumor Suppressor ProteinsUbiquitin ThiolesteraseUveal MelanomaUveal NeoplasmsBAP1 protein, humanPhosphoproteinsRNA Splicing FactorsSF3B1 protein, humanTumor Suppressor ProteinsUbiquitin Thiolesterase

Identifiers

PMID34997020
PMCPMC8742000
OpenAlexW4206692082

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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.