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Updated: Jun 10, 2025

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

Ianthe A E M van Belzen1, Marc van Tuil1, Shashi Badloe1

  • 1Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.

Cell Genomics
|October 15, 2024
PubMed
Summary
This summary is machine-generated.

Complex genomic rearrangements (CGRs) are common in pediatric solid tumors, impacting cancer driver genes and clinical outcomes. These findings suggest CGRs are important for risk stratification and targeted cancer treatments.

Keywords:
CGRsWGSchromoplexychromothripsiscomplex genomic rearrangementscomplex structural variationecDNAextrachromosomal DNApediatric solid tumorswhole-genome sequencing

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Area of Science:

  • Genomics
  • Pediatric Oncology
  • Cancer Biology

Background:

  • Structural variants (SVs) and copy-number alterations are key drivers in pediatric cancers, influencing diagnosis and treatment.
  • The role of complex genomic rearrangements (CGRs) in pediatric solid tumors remains largely uncharacterized.

Purpose of the Study:

  • To systematically investigate the prevalence and biological significance of CGRs, including extrachromosomal DNA, chromoplexy, and chromothripsis, in a cohort of pediatric solid tumors.

Main Methods:

  • Analysis of 120 primary pediatric solid tumors across five cancer types.
  • Systematic characterization of complex genomic rearrangements (CGRs).

Main Results:

  • CGRs were detected in 47% (56/120) of the pediatric tumors studied.
  • In 42 of these tumors, CGRs involved cancer driver genes or led to adverse chromosomal alterations.
  • The presence of CGRs was associated with a higher incidence of adverse clinical events.

Conclusions:

  • Complex genomic rearrangements (CGRs) are prevalent and pathogenic in pediatric solid tumors.
  • Genomic selection likely shapes the landscape of structural variation in these cancers.
  • CGRs hold potential for improving risk stratification and guiding targeted therapies in pediatric oncology.