Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC)

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

Purpose: Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 and SWN by incorporating recent advances in genetics, ophthalmology, neuropathology, and neuroimaging. Methods: We used a multistep process, beginning with a Delphi method involving global disease experts and subsequently involving non-neurofibromatosis clinical experts, patients, and foundations/patient advocacy groups. Results: We reached consensus on the minimal clinical and genetic criteria for diagnosing NF2 and SWN. These criteria incorporate mosaic forms of these conditions. In addition, we recommend updated nomenclature for these disorders to emphasize their phenotypic overlap and to minimize misdiagnosis with neurofibromatosis type 1. Conclusion: The updated criteria for NF2 and SWN incorporate clinical features and genetic testing, with a focus on using molecular data to differentiate the 2 conditions. It is likely that continued refinement of these new criteria will be necessary as investigators study the diagnostic properties of the revised criteria and identify new genes associated with SWN. In the revised nomenclature, the term “neurofibromatosis 2” has been retired to improve diagnostic specificity.

Original languageEnglish (US)
Pages (from-to)1967-1977
Number of pages11
JournalGenetics in Medicine
Volume24
Issue number9
DOIs
StatePublished - Sep 2022

Keywords

  • lztr1
  • Neurofibromatosis
  • NF2
  • Schwannomatosis
  • SMARCB1

ASJC Scopus subject areas

  • Genetics(clinical)

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