Abstract Details

Title Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Topic Neuro-oncology

Presentation(s) S27 - Innovations in Neuro-oncology (1:12 PM-1:24 PM)

Poster/Presentation
Number 002

Background NF1 is characterized by multiple café-au-lait macules, skinfold freckling, iris Lisch nodules, tumors of the nervous system, learning disability, and other features. Legius syndrome is phenotypically similar to NF1 but has a distinct genetic etiology.

Objective By incorporating major developments in genetics, ophthalmology, dermatology and neuroimaging: to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS).

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

Results We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended.

Conclusions The revised criteria for NF1 incorporate new clinical features and genetic testing, whereas the criteria for LGSS were created to differentiate the two conditions. It is likely that continued refinement of these new criteria will be necessary as investigators (1) study the diagnostic properties of the revised criteria; (2) reconsider criteria not included in this process; and (3) identify new clinical and other features of these conditions. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF1 and LGSS.

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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