NF2 loss-of-function mutation (merlin/schwannomin)
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-NF2 |
|---|---|
| Type | Biomarker |
| Aliases | NF2 mutation / merlin lossМутація втрати функції NF2 (мерлін/швановмін) |
| Status | reviewed 2026-05-04 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-EANO-MENINGIOMA-2024 SRC-NCCN-CNS-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"exon": "multiple (exons 1–17)", "functional_impact": "loss-of-function", "gene": "NF2", "variant_type": "loss-of-function (frameshift, nonsense, splice, missense inactivating; large deletion)"} |
| Measurement | MethodTumor NGS panel or IHC (merlin/NF2 loss of expression); germline NGS (blood) for NF2 syndrome; FISH for 22q11 deletion |
| Actionability lookup | {"gene": "NF2", "variant": "loss_of_function"} |
| Related biomarkers | None declared |
Notes
NF2 encodes merlin (moesin-ezrin-radixin-like protein), a tumor suppressor that links the actin cytoskeleton to membrane receptor signaling. NF2 loss deregulates multiple oncogenic pathways: mTORC1, RAC1/PAK, Hippo/YAP, FAK, MAPK. Loss of NF2 defines the most common sporadic meningioma driver (~50%) and is the defining germline defect in Neurofibromatosis Type 2 (NF2 syndrome). NF2 syndrome features: bilateral vestibular schwannomas (pathognomonic), multiple intracranial/spinal meningiomas, spinal schwannomas, and peripheral neuropathy. Therapeutic relevance: no FDA-approved targeted therapy specifically for NF2-mutant tumors (2026). Investigational: selumetinib (MEK inhibitor; FDA-approved for NF1 pediatric plexiform neurofibroma) being evaluated for NF2 vestibular schwannomas (phase II ACTR-4 trial — limited activity); bevacizumab (anti-VEGF) used off-label for NF2-related vestibular schwannomas (hearing preservation in some patients); FAK inhibitors (defactinib) in NF2-deficient mesothelioma (phase I/II). In mesothelioma: NF2 loss (~50% of pleural mesothelioma) is being evaluated as biomarker for FAK inhibitor sensitivity.
Used By
Actionability
BMA-NF2-MENINGIOMA- NF2 loss is the most common molecular driver in meningioma (~50% of grade I; higher propo...
Diseases
DIS-MENINGIOMA- Meningioma