Complex structural variation patterns in pediatric solid tumors

In this study, we performed systematic characterization of chromoplexy, chromothripsis and extrachromosomal DNA across five types of pediatric solid tumors: neuroblastoma, Ewing sarcoma, Wilms tumor, hepatoblastoma and rhabdomyosarcoma. Almost half of all tumors had at least one complex SV and we identified candidate pathogenic events that affect genes or chromosomal alterations known to be relevant in these cancer types. In conclusion, complex SVs are prevalent and highly pathogenic in pediatric solid tumors.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

2 Datasets 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001011378	Paired tumor-normal whole genome sequencing data from primary tumors of patients diagnosed with neuroblastoma, Ewing sarcoma, Wilms tumor, hepatoblastoma and rhabdomyosarcoma		1
EGAD00001015418	Creation of living organoid biobank for ewing and ewing-like sarcomas	Illumina NovaSeq 6000	11

Publications	Citations
Complex structural variation is prevalent and highly pathogenic in pediatric solid tumors. van Belzen IAEM, van Tuil M, Badloe S, Janse A, Verwiel ETP, Santoso M, de Vos S, Baker-Hernandez J, Kerstens HHD, Solleveld-Westerink N, Meister MT, Drost J, van den Heuvel-Eibrink MM, Merks JHM, Molenaar JJ, Peng WC, Tops BBJ, Holstege FCP, Kemmeren P, Hehir-Kwa JY. Cell Genom 4: 2024 100675	0