Mutación activadora del GNAS (proteína Gα_s)
Vista determinista de la entidad fuente YAML. La autoridad clínica sigue con los ID de fuente citados y estado de firma del revisor.
| ID | BIO-GNAS |
|---|---|
| Tipo | Biomarcador |
| Aliaces | Mutación GNAS / Gαs activando la mutaciónАктивуюча мутація GNAS (Gα_s протеїн) |
| Situación | reviewed 2026-05-04 | pending_clinical_signoff |
| Enfermedades | DIS-PDAC |
| Fuentes | SRC-ESMO-PANCREATIC-2024 SRC-NCCN-PANCREATIC-2025 |
Datos sobre biomarcadores
| Tipo de biomarcador | gene_mutation |
|---|---|
| Detalles de la mutación | {"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)"} |
| Medición | MétodoTumor NGS (citología del líquido del quiste pancreático + NGs, aspiración de aguja fina guiada por ultrasonido); tejido estándar NGG para otros contextos |
| Consulta de la capacidad de acción | {"gen": "GNAS", "variante":"R201"} |
| Productos químicos y químicos | 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...
Utilizado por
Relevancia terapéutica
BMA-GNAS-IPMN- Las mutaciones del GNAS R201 se detectan en ~40–70% de los IPMNs (principalmente el...