Alternative lengthening of telomeres in childhood neuroblastoma from genome to proteome

Nat Commun. 2021 Feb 24;12(1):1269. doi: 10.1038/s41467-021-21247-8.

Abstract

Telomere maintenance by telomerase activation or alternative lengthening of telomeres (ALT) is a major determinant of poor outcome in neuroblastoma. Here, we screen for ALT in primary and relapsed neuroblastomas (n = 760) and characterize its features using multi-omics profiling. ALT-positive tumors are molecularly distinct from other neuroblastoma subtypes and enriched in a population-based clinical sequencing study cohort for relapsed cases. They display reduced ATRX/DAXX complex abundance, due to either ATRX mutations (55%) or low protein expression. The heterochromatic histone mark H3K9me3 recognized by ATRX is enriched at the telomeres of ALT-positive tumors. Notably, we find a high frequency of telomeric repeat loci with a neuroblastoma ALT-specific hotspot on chr1q42.2 and loss of the adjacent chromosomal segment forming a neo-telomere. ALT-positive neuroblastomas proliferate slowly, which is reflected by a protracted clinical course of disease. Nevertheless, children with an ALT-positive neuroblastoma have dismal outcome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Western
  • Exons / genetics
  • Flow Cytometry
  • Humans
  • Proteome / metabolism
  • Retrospective Studies
  • Sequence Analysis, RNA / methods
  • Telomere / genetics
  • Telomere / metabolism
  • Telomere Homeostasis / genetics
  • Whole Genome Sequencing / methods*
  • X-linked Nuclear Protein / genetics

Substances

  • Proteome
  • X-linked Nuclear Protein