GNAS activant la mutation (protéine Gα_s)
Vue déterministe de l'entité source de la LJAM. L'autorité clinique demeure avec les ID de la source cités et l'état d'approbation de l ́examinateur.
| ID | BIO-GNAS |
|---|---|
| Type | Biomarqueur |
| Alias | mutation GNAS / mutation Gαs activantАктивуюча мутація GNAS (Gα_s протеїн) |
| État | reviewed 2026-05-04 | pending_clinical_signoff |
| Maladies | DIS-PDAC |
| Sources | SRC-ESMO-PANCREATIC-2024 SRC-NCCN-PANCREATIC-2025 |
Données biomarqueurs
| Type de biomarqueur | gene_mutation |
|---|---|
| Détails de la mutation | {"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)"} |
| Mesure | MéthodeTumeur NGS (cytologie du liquide du kyste pancréatique + NGL, aspiration d'aiguille fine guidée par ultrasons); tissu standard NGG pour d'autres contextes |
| Recherche de la faisabilité | {"générique": "GNAS", "variante":"R201"} |
| Biomarqueurs connexes | BIO-KRAS-G12C BIO-KRAS-G12D |
Notes
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...
Utilisé par
Pertinence thérapeutique
BMA-GNAS-IPMN- Les mutations du GNAS R201 sont détectées dans environ 40 à 70 % des NIPM (principalement le...