Mutation par perte de fonction NF2 (merlin/schwannomin)
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| ID | BIO-NF2 |
|---|---|
| Type | Biomarqueur |
| Alias | Mutation NF2 / perte de merlineМутація втрати функції NF2 (мерлін/швановмін) |
| État | reviewed 2026-05-04 | pending_clinical_signoff |
| Maladies | DIS-MENINGIOMA |
| Sources | SRC-EANO-MENINGIOMA-2024 SRC-NCCN-CNS-2025 |
Données biomarqueurs
| Type de biomarqueur | gene_mutation |
|---|---|
| Détails de la mutation | {"exon": "multiple (exons 1–17)", "functional_impact": "loss-of-function", "gene": "NF2", "variant_type": "loss-of-function (frameshift, nonsense, splice, missense inactivating; large deletion)"} |
| Mesure | MéthodePanneaux NGS tumoraux ou IHC (perte d'expression de la mérline/NF2); NGL germinale (sang) pour le syndrome NF2; FISH pour la délétion 22q11 |
| Recherche de la faisabilité | {"gene": "NF2", "variant": "loss_of_function"} |
| Biomarqueurs connexes | Aucune déclaration |
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.
Utilisé par
Pertinence thérapeutique
BMA-NF2-MENINGIOMA- La perte de NF2 est le facteur moléculaire le plus courant dans le méningiome (~50% du grade I; ...
Biomarqueur
BIO-NF2-GERMLINE- NF2 (merlin) germline pathogenic variant
Maladie
DIS-MENINGIOMA- Méningiome