WHO 2016 classification: changes and advancements in the diagnosis of miscellaneous primary CNS tumours

F. Sahm, D. E. Reuss, Caterina Giannini

Research output: Contribution to journalReview article

16 Scopus citations

Abstract

This short review highlights significant changes and recent findings incorporated to varying extent in the WHO 2016 definition of a variety of tumours, including peripheral nerve sheath tumours, meningiomas, mesenchymal nonmeningothelial tumours, melanocytic tumours, lymphomas and histiocytic tumours, germ cell tumours and non-neuroendocrine pituitary tumours. Most notable classification changes include: adding ‘hybrid nerve sheath tumours’ to the spectrum of benign nerve sheath tumours; an updated definition of atypical meningioma (WHO grade II), including cases with brain invasion; recognizing dural solitary fibrous tumour (SFT) and haemangiopericytoma (HPC) as a single tumour entity characterized by NAB2 and STAT6 gene fusions for which the term SFT/HPC was chosen; recognizing that pituitary granular cell tumour, spindle cell oncocytoma, and pituicytoma all share nuclear expression of TTF-1, possibly representing a spectrum of a single nosological entity derived from posterior pituitary glial cells. The most significant diagnostic markers which have emerged include: inactivation of NF1, CDKN2A, and PRC2 components, SUZ12 and EED in MPNST, leading to neurofibromin and H3K27me3 expression loss; GNAQ and GNA11 mutations in CNS primary melanocytic tumours; BRAFV600E mutation in histiocytic tumours (Langerhans cell histiocytosis and Erdheim-Chester disease) and papillary craniopharyngioma, which provides both a diagnostic marker in the appropriate pathological setting and a therapeutic target. The WHO 2016 Classification has balanced cutting-edge knowledge on the molecular characteristics of the miscellaneous CNS tumours reviewed here with a practical approach for their daily diagnostic work-up. Much more progress can be expected in the classification of these neoplasms in the near future.

Original languageEnglish (US)
Pages (from-to)163-171
Number of pages9
JournalNeuropathology and Applied Neurobiology
Volume44
Issue number2
DOIs
StatePublished - Feb 1 2018

Keywords

  • craniopharyngioma
  • histiocytosis
  • melanocytic tumours
  • meningioma
  • peripheral nerve sheath tumours
  • pituitary tumours
  • solitary fibrous tumour/haemangiopericytoma
  • WHO classification

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology
  • Neurology
  • Clinical Neurology
  • Physiology (medical)

Fingerprint Dive into the research topics of 'WHO 2016 classification: changes and advancements in the diagnosis of miscellaneous primary CNS tumours'. Together they form a unique fingerprint.

  • Cite this