mutation HNF1A (somatique ou germinale)
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-HNF1A |
|---|---|
| Type | Biomarqueur |
| Alias | Mutation HNF1AМутація HNF1A (соматична або зародкової лінії) |
| État | reviewed 2026-05-04 | pending_clinical_signoff |
| Maladies | DIS-HCC |
| Sources | SRC-AASLD-HCC-2023 SRC-NCCN-HCC-2025 |
Données biomarqueurs
| Type de biomarqueur | gene_mutation |
|---|---|
| Détails de la 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"} |
| Mesure | MéthodeGNS gémliné (sang) pour soupçon MODY3; panel NGS tumoral pour HCC somatique/HCA; IHC (perte de FABP LFABP/Févère sous forme de substitut HNF1A inactivé HCA) |
| Recherche de la faisabilité | {"gene": "HNF1A", "variant": "loss_of_function"} |
| Biomarqueurs connexes | Aucune déclaration |
Notes
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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Pertinence thérapeutique
BMA-HNF1A-HCC- HNF1A somatic inactivating mutations occur in ~10% of HCC and ~35–40% of hepatocellular a...