Mutação de perda de função NF1
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| ID | BIO-NF1-MUTATION |
|---|---|
| Tipo | Biomarcador |
| Alegais | NF1 LOFMutação NF1perda de neurofibrominaМутація NF1 (втрата функції) |
| Estado | reviewed 2026-04-29 | pending_clinical_signoff |
| Doenças | Nenhuma declaração |
| Fontes | SRC-CIVIC SRC-NCCN-MELANOMA-2025 |
Fatos de biomarcadores
| Tipo de biomarcador | gene_mutation |
|---|---|
| Detalhes da mutação | {"functional_impact": "loss_of_function", "gene": "NF1", "variant_type": "loss-of-function — frameshift / nonsense / splice / large deletion (germline NF1 syndrome or somatic)"} |
| Medição | MétodoNGS painel (tumor ou linha germinativa) detetando truncação / eclipses / eventos CNV; IHC para a perda de neurofibromina é apenas de grau de pesquisa Unidadescategorical (mutated | wild-type) |
| Biomarcadores relacionados | BIO-BRAF-V600E |
Notas
NF1 encodes neurofibromin, a RAS-GAP tumor suppressor. Loss-of-function events activate RAS/MAPK signaling. **Melanoma sub-classification (TCGA Cell 2015):** four genomic subtypes — BRAF-mutant, RAS-mutant, NF1-mutant, triple wild-type. NF1-mutant melanomas (~14%) are typically: - cutaneous, sun-exposed sites with high UV signature mutational burden - older patients - frequently co-occur with RASopathy-pattern alterations - generally lack canonical BRAF V600 / NRAS Q61 drivers **Therapeutic relevance:** - No tumor-type-agnostic NF1-directed targeted therapy approved (2026). - MEK inhibitor sensitivity reported in plexiform neurofibroma (selumetinib FDA-approved for pediatric NF1 plexiform NF, 2020) and explored in NF1-mutant cutaneous melanoma (off-label, evidence emerging). - High TMB common in UV-driven NF1-mutant melanoma → ICI candidate. Outside melanoma: NF1 mutation is the defining lesion in neurofibromatosis type 1 (germline) and recurs somatically in glioblastoma, MPNST, juvenile myelomonocytic leukemia (JMML), AML, ovarian, lung adenocarcinoma. Lineage drives interpretation. multi_allele_mvp skip-reason: tumor-suppressor with no single canonical actionable variant — many...
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