Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations

Nat Commun. 2020 Oct 14;11(1):5183. doi: 10.1038/s41467-020-18987-4.

Abstract

Neuroblastoma is a pediatric malignancy with heterogeneous clinical outcomes. To better understand neuroblastoma pathogenesis, here we analyze whole-genome, whole-exome and/or transcriptome data from 702 neuroblastoma samples. Forty percent of samples harbor at least one recurrent driver gene alteration and most aberrations, including MYCN, ATRX, and TERT alterations, differ in frequency by age. MYCN alterations occur at median 2.3 years of age, TERT at 3.8 years, and ATRX at 5.6 years. COSMIC mutational signature 18, previously associated with reactive oxygen species, is the most common cause of driver point mutations in neuroblastoma, including most ALK and Ras-activating variants. Signature 18 appears early and is continuous throughout disease evolution. Signature 18 is enriched in neuroblastomas with MYCN amplification, 17q gain, and increased expression of mitochondrial ribosome and electron transport-associated genes. Recurrent FGFR1 variants in six patients, and ALK N-terminal structural alterations in five samples, identify additional patients potentially amenable to precision therapy.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Anaplastic Lymphoma Kinase / genetics
  • Biomarkers, Tumor / genetics*
  • Child
  • Child, Preschool
  • Cohort Studies
  • DNA Copy Number Variations
  • DNA Mutational Analysis
  • Datasets as Topic
  • Electron Transport / genetics
  • Exome / genetics
  • Female
  • Gene Expression Regulation, Neoplastic*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mitochondrial Ribosomes
  • Mutation
  • Neuroblastoma / genetics*
  • Neuroblastoma / pathology
  • Receptor, Fibroblast Growth Factor, Type 1 / genetics
  • Ribosomal Proteins / genetics
  • Transcriptome / genetics
  • Whole Genome Sequencing
  • Young Adult

Substances

  • Biomarkers, Tumor
  • Ribosomal Proteins
  • ALK protein, human
  • Anaplastic Lymphoma Kinase
  • FGFR1 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1