Molecular tools for the pathologic diagnosis of central nervous system tumors

Loudy P. Priesterbach-Ackley, Pieter Wesseling, Tom J. Snijders, Filip Y.F.L. De Vos, Wendy W.J. De Leng

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)

Abstract

Molecular diagnostics currently has a crucial role in neuro-oncological patient care. (Epi)genetic assays testing for point mutations, copy number variations, gene fusions, translocations, and methylation status are of main diagnostic interest in neuro-oncology. Multiple assays have been developed for this purpose, ranging from single gene tests to high-Throughput, integrated techniques enabling detection of multiple genetic aberrations in a single workflow. This review describes the nature of the simpler and more complex assays for molecular diagnostics of tumors of the central nervous system and briefly discusses their strengths and weaknesses.

Original languageEnglish
Pages (from-to)4-16
Number of pages13
JournalNeuro-Oncology Practice
Volume6
Issue number1
DOIs
Publication statusPublished - 30 Jan 2019

Keywords

  • diagnosis
  • epigenetics
  • genetic alterations
  • molecular pathology
  • neuro-oncology

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