GNAS-Aktivierungsmutation (Gα_s-Protein)
Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.
| ID | BIO-GNAS |
|---|---|
| Art | Biomarker |
| Aliase | GNAS-Mutation / Gαs-AktivierungsmutationАктивуюча мутація GNAS (Gα_s протеїн) |
| Status | reviewed 2026-05-04 | pending_clinical_signoff |
| Erkrankungen | DIS-PDAC |
| Quellen | SRC-ESMO-PANCREATIC-2024 SRC-NCCN-PANCREATIC-2025 |
Biomarker-Fakten
| Biomarker-Typ | gene_mutation |
|---|---|
| Angaben zur 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)"} |
| Messung | VerfahrenTumor-NGS (Pankreaszystenflüssigkeitszytologie + NGS, endoskopisch Ultraschall-geführte feine Nadelaspiration); Standardgewebe-NGS für andere Kontexte |
| Nachschlagewerk für die Aktionsfähigkeit | "Gen": "GNAS", "Variante":"R201"} |
| Verwandte Biomarker | BIO-KRAS-G12C BIO-KRAS-G12D |
Anmerkungen
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...
Verwendet von
Therapeutische Relevanz
BMA-GNAS-IPMN- GNAS R201 Mutationen werden in ~40–70% der IPMNs nachgewiesen (vorwiegend Haupt- und Misch-t...