NF2 germline pathogenic variants drive Neurofibromatosis Type 2 (NF2 / NF2- related schwa...
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BMA-NF2-GERMLINE-VESTIBULAR-SCHWANNOMA |
|---|---|
| Type | Actionability |
| Status | reviewed 2026-05-18 | pending_clinical_signoff | actionability review required |
| Diseases | DIS-MENINGIOMA |
| Sources | SRC-NCCN-CNS-2025 |
Actionability Facts
| Biomarker | BIO-NF2-GERMLINE |
|---|---|
| Variant | NF2 germline pathogenic (merlin/schwannomin loss-of-function) |
| Disease | DIS-MENINGIOMA |
| ESCAT tier | IIA |
| Recommended combinations | bevacizumab 5-7.5 mg/kg q2-3w — growing or symptomatic vestibular schwannoma in NF2 (off-label, evidence-supported per Plotkin et al. 2012), stereotactic radiosurgery — selected vestibular schwannomas, cautious (malignant transformation risk in NF2), microsurgical resection — symptomatic / brainstem-compressing schwannomas, meningiomas, multidisciplinary NF2 clinic (otology, neurosurgery, neuro-oncology, genetics) |
| Evidence summary | NF2 germline pathogenic variants drive Neurofibromatosis Type 2 (NF2 / NF2- related schwannomatosis) — characterized by bilateral vestibular schwannomas, meningiomas (often multiple), spinal schwannomas, ependymomas, and juvenile posterior subcapsular cataract. Confirmed-carrier surveillance protocol (per NCCN CNS / Manchester NF2 Consensus): brain MRI with contrast (thin slices through IAC) starting at age 10-12 (earlier if symptomatic) q1-2y for vestibular schwannoma and intracranial meningioma, whole-spine MRI q2-3y for spinal schwannomas and meningiomas, annual neurological exam, annual audiology (pure-tone + speech discrimination + ABR), ophthalmology exam q1-2y. Bevacizumab is active for growing or symptomatic vestibular schwannoma (hearing preservation / volume reduction in ~40-60% per Plotkin et al.) — surveillance-triggered, not prophylactic. Surgery + radiosurgery remain mainstays for accessible lesions; radiosurgery use is cautious due to malignant transformation risk in NF2. ESCAT IIA. |
Notes
STUB — Wave A+B germline expansion. Linked Indication: none (no NF2-specific Indication entity exists yet). Two-Clinical-Co-Lead signoff queued. Disease anchor uses DIS-MENINGIOMA as the most clinically relevant tumor in the spectrum; vestibular schwannoma is the pathognomonic feature but lacks a Disease entity. Mosaic NF2 (somatic mosaicism, ~25-33% of cases) requires deep sequencing of tumor + blood for diagnosis.
Used By
No reverse references found in the YAML corpus.