Click here for full article.


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. 

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.

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