Las mutaciones del GNAS R201 se detectan en ~40–70% de las NPI (principalmente el...
Vista determinista de la entidad fuente YAML. La autoridad clínica sigue con los ID de fuente citados y estado de firma del revisor.
| ID | BMA-GNAS-IPMN |
|---|---|
| Tipo | Relevancia terapéutica |
| Situación | reviewed 2026-05-04 | pending_clinical_signoff | actionability review required |
| Enfermedades | DIS-PDAC |
| Fuentes | SRC-ESMO-PANCREATIC-2024 SRC-NCCN-PANCREATIC-2025 |
Hechos relativos a la posibilidad de adoptar medidas
| Biomarcador | BIO-GNAS |
|---|---|
| Variante | GNAS R201 activating mutation (R201C, R201H) in pancreatic cyst fluid or tissue — intraductal papillary mucinous neoplasm (IPMN); diagnostic/risk-stratification marker for cyst malignant potential |
| Enfermedad | DIS-PDAC |
| El nivel de ESCAT | IIB |
| Combinaciones recomendadas | Pancreaticoduodenectomía o pancreatectomía distal — para el IPMN con estigmas de alto riesgo (ictericia obstructiva, nódulo mural ≥5 mm, dilatación del conducto principal ≥10 mm, citología positiva) independientemente del estado del GNAS, Vigilancia (IRM/MRCP o EUS q6m–3yr dependiendo del tamaño/las características) — para IPMNE sin estigmatas de alto nivel de riesgo; la positividad del GNS + KRAS informa una vigilancia más frecuente |
| Resumen de las pruebas | GNAS R201 mutations are detected in ~40–70% of IPMNs (predominantly main-duct and mixed-type) and in a subset of GNAS-driven mucinous cystic neoplasms (MCNs). GNAS mutation is a key component of multi-analyte pancreatic cyst fluid analysis (alongside KRAS mutation, CEA level, cytology) used to classify cysts as mucinous vs non-mucinous and to stratify malignant potential. Clinical utility: (1) Diagnostic: GNAS R201 mutation in cyst fluid confirms mucinous neoplasm (IPMN or MCN) with high specificity (>95%). Used in Pancrasite and other commercial cyst analysis panels. (2) Risk stratification: GNAS + KRAS double-positive cysts have higher malignant risk than GNAS or KRAS single-positive. Per NCCN/IAP (International Association of Pancreatology) 2022 guidelines, worrisome features and high-risk stigmata drive surgical referral, but molecular markers (GNAS + KRAS + TP53/SMAD4/CDKN2A) in cyst fluid are increasingly incorporated into risk models. (3) No treatment is directed at GNAS per se — management is surgical resection for high-risk features. GNAS mutation does not select systemic t... |
Notas
ESCAT IIB: GNAS mutation is a diagnostic/risk-stratification tool in IPMN management, not a therapeutic target. The disease_id DIS-PDAC is used as the closest match, since IPMN is a pre-malignant precursor to PDAC; no dedicated IPMN disease entity exists in the KB. Clinical workflow for pancreatic cysts: (1) Imaging characterization: MRI/MRCP (preferred), CT for mural nodule detection. (2) EUS-FNA with cyst fluid analysis for cysts ≥2 cm or with concerning features. (3) Cyst fluid CEA (>192 ng/mL = mucinous), amylase (low in serous), cytology (atypical/ malignant cells = immediate surgery), GNAS/KRAS NGS panel. (4) GNAS+ (or KRAS+) confirms mucinous → enter IAP/NCCN surveillance protocol. (5) Additional molecular markers (TP53, SMAD4, CDKN2A mutations in cyst fluid) may indicate high-grade dysplasia requiring resection even without imaging high-risk stigmata. GNAS R201 testing: requires dedicated pancreatic cyst fluid NGS panel (e.g., Pancrasite by LabCorp, or institutional panel); not covered by standard tumor tissue NGS panels.
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