Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer

Nat Med. 2020 Nov;26(11):1742-1753. doi: 10.1038/s41591-020-1072-4. Epub 2020 Oct 5.

Abstract

The Zero Childhood Cancer Program is a precision medicine program to benefit children with poor-outcome, rare, relapsed or refractory cancer. Using tumor and germline whole genome sequencing (WGS) and RNA sequencing (RNAseq) across 252 tumors from high-risk pediatric patients with cancer, we identified 968 reportable molecular aberrations (39.9% in WGS and RNAseq, 35.1% in WGS only and 25.0% in RNAseq only). Of these patients, 93.7% had at least one germline or somatic aberration, 71.4% had therapeutic targets and 5.2% had a change in diagnosis. WGS identified pathogenic cancer-predisposing variants in 16.2% of patients. In 76 central nervous system tumors, methylome analysis confirmed diagnosis in 71.1% of patients and contributed to a change of diagnosis in two patients (2.6%). To date, 43 patients have received a recommended therapy, 38 of whom could be evaluated, with 31% showing objective evidence of clinical benefit. Comprehensive molecular profiling resolved the molecular basis of virtually all high-risk cancers, leading to clinical benefit in some patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • DNA Methylation / genetics
  • Epigenome / genetics*
  • Exome Sequencing
  • Female
  • Humans
  • Infant
  • Male
  • Mutation / genetics
  • Neoplasm Proteins / genetics*
  • Neoplasms / classification
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Pediatrics
  • Precision Medicine
  • Risk Factors
  • Transcriptome / genetics*
  • Whole Genome Sequencing

Substances

  • Neoplasm Proteins