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.

• Overview of the assessment of genomic findings in the diagnostic workup of CNS neoplasia. • Technical and organizational approaches to genomic assessment of copy number aberrations. • A comprehensive yet concise review of the most important genomic findings in select CNS tumors. • Annotations regarding diagnostic relevance as established by the WHO and other organizations. • Multiple illustrations to demonstrate techniques in the genomic assessment of CNS neoplasia. 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. [ABSTRACT FROM AUTHOR]