Mutación HNF1A (somática o gérmica)
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-HNF1A |
|---|---|
| Tipo | Biomarcador |
| Aliaces | Mutación HNF1AМутація HNF1A (соматична або зародкової лінії) |
| Situación | reviewed 2026-05-04 | pending_clinical_signoff |
| Enfermedades | DIS-HCC |
| Fuentes | SRC-AASLD-HCC-2023 SRC-NCCN-HCC-2025 |
Datos sobre biomarcadores
| Tipo de biomarcador | gene_mutation |
|---|---|
| Detalles de la mutación | {"exon": "multiple; homeodomain (exons 1–4) for germline MODY3; diverse somatic in HCC/HCA", "functional_impact": "loss-of-function (HNF1A controls hepatocyte differentiation, glycolysis, lipid metabolism, albumin/AFP expression)", "gene": "HNF1A", "variant_type": "loss-of-function (germline: MODY3); inactivating somatic (HCC subtype H-HCA); frameshift, nonsense, missense"} |
| Medición | MétodoGermlina NGS (sangre) para sospecha de MODY3; panel de NGL tumor para HCC/HCA somático; IHC (Pérdida de FABP/Fígado como sustituto de HNF1A inactivado) |
| Consulta de la capacidad de acción | {"gene": "HNF1A", "variant": "loss_of_function"} |
| Productos químicos y químicos | Ninguna declarada |
Notas
HNF1A (Hepatocyte Nuclear Factor 1 Alpha) is a homeodomain transcription factor critical for liver and pancreatic beta-cell differentiation. Clinical contexts: (1) Germline MODY3: ~30% of MODY cases; autosomal dominant; mild fasting hyperglycaemia; excellent sulfonylurea response; diagnosis changes management (avoid insulin first-line). (2) Hepatocellular Adenoma (HCA), H-subtype: biallelic somatic HNF1A inactivation in ~35–40% of HCA; steatotic hepatocytes, absent LFABP IHC; low malignant transformation risk (<1%); management is surveillance rather than resection for <5 cm lesions. (3) HCC: somatic HNF1A mutations in ~10% of HCC; associated with better hepatocyte differentiation (lower AFP, preserved liver function); no specific therapy implication beyond standard HCC management. ESCAT IIB for HCC: diagnostic/risk-stratification context (HCA subtype identification) rather than a therapeutic target. LFABP IHC (L-FABP/liver fatty acid binding protein) loss is a validated surrogate for HNF1A-inactivated HCA (available in most pathology labs).
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Relevancia terapéutica
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