Copy number assessment in the genomic analysis of CNS neoplasia: An evidence-based review from the cancer genomics consortium (CGC) working group on primary CNS tumors

Cancer Genet. 2020 May:243:19-47. doi: 10.1016/j.cancergen.2020.02.004. Epub 2020 Feb 26.

Abstract

The period from the 1990s to the 2010s has witnessed a burgeoning sea change in the practice of surgical neuropathology due to the incorporation of genomic data into the assessment of a range of central nervous system (CNS) neoplasms. This change has since matured into the adoption of genomic information into the definition of several World Health Organization (WHO)-established diagnostic entities. The data needed to accomplish the modern diagnosis of CNS neoplasia includes DNA copy number aberrations that may be assessed through a variety of mechanisms. Through a review of the relevant literature and professional practice guidelines, here we provide a condensed and scored overview of the most critical DNA copy number aberrations to assess for a selection of primary CNS neoplasms.

Publication types

  • Review

MeSH terms

  • Central Nervous System Neoplasms / diagnosis*
  • Central Nervous System Neoplasms / genetics
  • Central Nervous System Neoplasms / mortality
  • Central Nervous System Neoplasms / therapy
  • Clinical Decision-Making
  • DNA Copy Number Variations*
  • Genomics / standards*
  • Humans
  • Medical Oncology / standards*
  • Patient Selection
  • Practice Guidelines as Topic
  • Prognosis
  • Progression-Free Survival
  • Risk Assessment / methods
  • Risk Assessment / standards