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Genetic analysis of paired diagnosis and relapse neuroblastomas

Neuroblastoma is the most common extracranial paediatric solid tumour. Patients with high-risk neuroblastoma often relapse, with a dismal chance of survival (<10%). Here we studied 38 paired diagnosis or post-chemotherapy and relapse neuroblastoma cases from all risk groups to elucidate the genetic basis of relapse. We assessed structural variations, mutational data and in a subset clonal evolution.

Type: Cancer Genomics
Archive: European Genome-phenome Archive (EGA)

2 Datasets

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Dataset ID	Description	Technology	Samples
EGAD50000002882	Whole exome sequencing (WES) data was analysed for 81 neuroblastoma samples from 35 patients at different timepoints, including at diagnosis (D), post-chemotherapy (PC), and/or relapse (R). Seventy-five samples were sequenced using the Illumina TruSeq Rapid Exome kit and NextSeq500 platform at 90x, while the Nextera Library Prep Kit and Illumina’s NovaSeq platform at 90x was used for the 6 remaining samples. Somatic variants were called using GATK HaplotypeCaller v. 4.0.11.0. VCF files from the analyses are included in this dataset.	NextSeq 500	81
EGAD50000002883	Whole exome sequencing (WES) germline data was analysed for 21 samples (G) from 20 neuroblastoma patients. Seventeen samples were sequenced using the Illumina TruSeq Rapid Exome kit and NextSeq500 platform at 30x, while the Nextera Library Prep Kit and Illumina’s NovaSeq platform at 90x was used for the 4 remaining samples. Germline variants were called using GATK HaplotypeCaller v. 4.0.11.0. VCF files from the analyses are included in this dataset.	Illumina NovaSeq 6000 NextSeq 500	21