HNF1A-Mutation (somatisch oder keimförmig)
Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.
| ID | BIO-HNF1A |
|---|---|
| Art | Biomarker |
| Aliase | HNF1A-MutationМутація HNF1A (соматична або зародкової лінії) |
| Status | reviewed 2026-05-04 | pending_clinical_signoff |
| Erkrankungen | DIS-HCC |
| Quellen | SRC-AASLD-HCC-2023 SRC-NCCN-HCC-2025 |
Biomarker-Fakten
| Biomarker-Typ | gene_mutation |
|---|---|
| Angaben zur Mutation | {"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"} |
| Messung | VerfahrenGermline NGS (Blut) für MODY3-Verdacht; Tumor-NGS-Panel für somatische HCC/HCA; IHC (LFABP/Leber FABP-Verlust als HNF1A-inaktivierte HCA-Ersatz) |
| Nachschlagewerk für die Aktionsfähigkeit | {"gene": "HNF1A", "variant": "loss_of_function"} |
| Verwandte Biomarker | None declared |
Anmerkungen
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).
Verwendet von
Therapeutische Relevanz
BMA-HNF1A-HCC- HNF1A somatisch inaktivierende Mutationen treten in ~10% HCC und ~35–40%...