NF1
NF2/ NF2-related schwannomatosis
AKA: MISME (multiple inherited schwannomas, meningiomas, and ependymomas)
Definition
AD characterized by multiple CNS tumors
History
1992 Manchester criteria
2017 Revised Manchester
2022 NF2-related schwannomatosis
Pathophys
-22q12.2→ Merlin (tumor supressor gene)
>cytoskeletal and contact-dependent
-Schawannomas→ Antoni A & B
A→ dense (Verocay bodies)
B→ loose
Incidence
1 in 40,000 births
Dx
-NF2-SWN 2022
DDx
-Schwannomatosis→ only peripheral, no central
-If found NF2:
>Annually eval→ bMRI, ophthal, audiologic
>Every 2y→ spine-MRI
-If tumor present, more freq
-Therapies
>Bevacizumab→ good VS, poor meningioma; SAEs in 10% (HTN, thromboembolic)
>Brigatinib→ good VS and meningioma