GNAS ativando a mutação (proteína Gα_s)
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| ID | BIO-GNAS |
|---|---|
| Tipo | Biomarcador |
| Alegais | Mutação GNAS / Gαs activando a mutaçãoАктивуюча мутація GNAS (Gα_s протеїн) |
| Estado | reviewed 2026-05-04 | pending_clinical_signoff |
| Doenças | DIS-PDAC |
| Fontes | SRC-ESMO-PANCREATIC-2024 SRC-NCCN-PANCREATIC-2025 |
Fatos de biomarcadores
| Tipo de biomarcador | gene_mutation |
|---|---|
| Detalhes da mutação | {"exon": "8 (codon 201: R201C, R201H, R201S) or exon 9 (codon 227: Q227L, Q227R)", "functional_impact": "activating", "gene": "GNAS", "variant_type": "missense activating (R201 mutations impair GTPase activity; Q227L similar mechanism)"} |
| Medição | MétodoTumor NGS (citologia do líquido do cisto pancreático + NGs, aspiração fina guiada por ultrassonografia); tecido padrão NGG para outros contextos |
| Procura de ação | {"gene": "GNAS", "variante":"R201"} |
| Biomarcadores relacionados | BIO-KRAS-G12C BIO-KRAS-G12D |
Notas
GNAS encodes the Gα stimulatory subunit (Gα_s) that couples G-protein-coupled receptors to adenylyl cyclase. Activating mutations at R201 or Q227 impair intrinsic GTPase activity, leading to constitutive cAMP signaling. Key clinical contexts: (1) Intraductal papillary mucinous neoplasm (IPMN): GNAS R201 mutations in ~40–70% of IPMNs (predominantly main-duct and mixed-type). GNAS mutation in cyst fluid provides evidence of mucinous (vs serous) neoplasm when combined with KRAS mutation and elevated CEA (>192 ng/mL). GNAS alone does not distinguish high-grade from low-grade IPMN. GNAS + KRAS double mutation associated with higher malignant risk (NCCN/IAP guidelines recommend surgical resection more strongly). Used in Pancrasite and other multi-analyte cyst fluid panels. (2) Pancreatic ductal adenocarcinoma (PDAC): GNAS mutations in ~10% — typically arising from IPMN-associated PDAC (mucinous pathway). (3) Fibrous dysplasia / McCune-Albright syndrome: post-zygotic somatic GNAS R201 mutations in a mosaic distribution cause fibrous dysplasia (bone) and, in McCune-Albright, also café-au-lait spots, precocious puberty, and hormone hypersecretion. Not oncology- relevant unless malignant tr...
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BMA-GNAS-IPMN- As mutações do GNAS R201 são detectadas em ~40–70% dos IPMNs (predominantemente, o...