Evidence map›Paper›PMID 39406233›Full record

ArticleCell genomics2024

Complex structural variation is prevalent and highly pathogenic in pediatric solid tumors.

Ianthe A E M van Belzen, Marc van Tuil, Shashi Badloe, Alex Janse, Eugène T P Verwiel, Marcel Santoso, Sam de Vos, John Baker-Hernandez, Hindrik H D Kerstens, Nienke Solleveld-Westerink and 10 more

Abstract read
In one paragraph

Article in Cell genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Review
  8. Review
  9. The landscape of structural variation in pediatric cancer.bioRxiv : the preprint server for biology · 2025
    Article
  10. Review
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

20 authors.

Ianthe A E M van BelzenPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Marc van TuilPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Shashi BadloePrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Alex JansePrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Eugène T P VerwielPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Marcel SantosoPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Sam de VosPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
John Baker-HernandezPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Hindrik H D KerstensPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Nienke Solleveld-WesterinkDepartment of Pathology, UMC Utrecht, Utrecht, the Netherlands.
Michael T MeisterPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Oncode Institute, Utrecht, the Netherlands.
Jarno DrostPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Oncode Institute, Utrecht, the Netherlands.
Marry M van den Heuvel-EibrinkPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; UMC Utrecht-Wilhelmina Children's Hospital-Child Health, Utrecht, the Netherlands.
Johannes H M MerksPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Division of Imaging and Oncology, UMC Utrecht and Utrecht University, Utrecht, the Netherlands.
Jan J MolenaarPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Department of Pharmaceutical Sciences, Utrecht University, Utrecht, the Netherlands.
Weng Chuan PengPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Bastiaan B J TopsPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Frank C P HolstegePrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Patrick KemmerenPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Center for Molecular Medicine, UMC Utrecht and Utrecht University, Utrecht, the Netherlands. Electronic address: p.kemmeren@prinsesmaximacentrum.nl.
Jayne Y Hehir-KwaPrincess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands. Electronic address: j.y.hehirkwa@prinsesmaximacentrum.nl.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In pediatric cancer, structural variants (SVs) and copy-number alterations contribute to cancer initiation as well as progression, thereby aiding diagnosis and treatment stratification. Although suggested to be of importance, the prevalence and biological relevance of complex genomic rearrangements (CGRs) across pediatric solid tumors is largely unexplored. In a cohort of 120 primary tumors, we systematically characterized patterns of extrachromosomal DNA, chromoplexy, and chromothripsis across five pediatric solid cancer types. CGRs were identified in 56 tumors (47%), and in 42 of these tumors, CGRs affect cancer driver genes or result in unfavorable chromosomal alterations. This demonstrates that CGRs are prevalent and pathogenic in pediatric solid tumors and suggests that selection likely contributes to the structural variation landscape. Moreover, carrying CGRs is associated with more adverse clinical events. Our study highlights the potential for CGRs to be incorporated in risk stratification or exploited for targeted treatments.

Indexed as

NeoplasmsChildChild, PreschoolChromothripsisDNA Copy Number VariationsFemaleGenomic Structural VariationHumansMaleCGRschromoplexychromothripsiscomplex genomic rearrangementscomplex structural variationecDNAextrachromosomal DNApediatric solid tumorsWGSwhole-genome sequencing

Identifiers

PMID39406233
PMCPMC11605687

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

None linked

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.