Schwannomatosis can be diagnosed if certain criteria are present.
Clinical criteria - one of the following:
(1) >= 2 nondermal biopsy-proven schwannomas AND no evidence of bilateral vestibular schwannomas on high-quality MRI
(2) (>=1 biopsy-proven nondermal schwannoma OR intracranial meningioma) AND first-degree relative with schwannomatosis
Molecular criteria - one of the following:
(1) (>=1 biopsy-proven nondermal schwannoma OR intracranial meningioma) AND a germline SMARCB1 or LZTR1 mutation
(2) >=2 tumors (biopsy-proven nondermal schwannoma OR intracranial meningiomas) with shared SMARCB1 mutation and differing NF2 mutations
Exclusion criteria:
(1) diagnosis of neurofibromatosis 2
(2) a germline NF2 pathogenic variant
(3) schwannoma only within a radiation treatment field
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Specialty: Hematology Oncology, Genetics, Neurology
