Abstract Details

Title Revised diagnostic criteria and nomenclature for neurofibromatosis 2 and schwannomatosis: an international consensus recommendation

Topic Neuro-oncology

Presentation(s) S27 - Innovations in Neuro-oncology (1:24 PM-1:36 PM)

Poster/Presentation
Number 003

Background NF2 and SWN are genetically distinct tumor predisposition syndromes with overlapping phenotypes that includes schwannomas and meningiomas.

Objective We sought to update the diagnostic criteria for neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) by incorporating recent advances in genetics, ophthalmology, neuropathology, and neuroimaging.

Design/Methods

We used a multi-step process, beginning with a Delphi method involving global disease experts and subsequently involving non-NF clinical experts, patients, and foundations/patient advocacy groups.

Results We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF2 and SWN. These criteria incorporate mosaic forms of these conditions. In addition, we recommend updated nomenclature for these disorders to minimize misdiagnosis of neurofibromatosis type 1 (NF1).

Conclusions The revised criteria for NF2 and SWN incorporate clinical features and genetic testing, with a focus on using molecular data to differentiate the two 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. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF2 and SWN.

Authors/Disclosures
Scott R. Plotkin, MD, PhD, FAAN (Mass General Cancer Center) PRESENTER	Dr. Plotkin has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for NFlection Therapeutics. Dr. Plotkin has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Akouos. Dr. Plotkin has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for SonALAsense. Dr. Plotkin has stock in NFlection Therapeutics. Dr. Plotkin has stock in NF2 Therapeutics. Dr. Plotkin has stock in SonALAsense. Dr. Plotkin has received research support from Children's Tumor Foundation. Dr. Plotkin has received research support from Department of Defense. Dr. Plotkin has received research support from National Institutes of Health. Dr. Plotkin has received intellectual property interests from a discovery or technology relating to health care.
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