Need Help?

The clinical utility of genomics in childhood cancer extends beyond targetable mutations - Cancer Panel data

We deeply sequenced 864 cancer-associated genes and the complete genomes and transcriptomes for 300 pediatric and adolescent/young adult (AYA) patients with poor prognosis or rare tumors. Using integrative somatic-germline analyses, we assessed the clinical utility of cancer genomics in this population. Clinically actionable variants were identified in 56% of patients. Improved diagnostic accuracy led to modified management in a subset. Therapeutically targetable variants, found in 54% of patients, were of unanticipated timing and type, with over 20% of these derived from the germline. Enrichment in corroborating mutational signature 3 (‘BRCAness’) in patients with germline homologous recombination defects suggests they are drivers of pediatric cancers and potential targets for PARP inhibition. Comprehensive somatic-germline cancer genomic profiling is useful at multiple points in the care trajectory for pediatric/AYA patients, supporting its integration into early clinical management. Re-biopsy at the time of relapse should be considered, and specific attention to the mutational burden is indicated. Defective DNA repair genes in the germline may represent important targetable drivers.

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
EGAD00001009733 Illumina HiSeq 2500 3
EGAD00001009734 Illumina HiSeq 2500 NextSeq 500 521
Publications Citations
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Nat Cancer 4: 2023 203-221
Synchronous T-lymphoblastic lymphoma and neuroblastoma in a 3-yr-old with novel germline <i>SMARCA4</i> and <i>EZH2</i> variants.
Cold Spring Harb Mol Case Stud 9: 2023 a006286