HNF1A somatic inactivating mutations occur in ~10% of HCC and ~35–40% of hepatocellular a...
Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.
| ID | BMA-HNF1A-HCC |
|---|---|
| Тип | Клінічна застосовність |
| Статус | переглянуто 2026-05-04 | очікує клінічного підпису | потрібне рев’ю клінічної застосовності |
| Хвороби | DIS-HCC |
| Джерела | SRC-AASLD-HCC-2023 SRC-NCCN-HCC-2025 |
Дані про клінічну застосовність
| Біомаркер | BIO-HNF1A |
|---|---|
| Варіант | HNF1A somatic mutation in hepatocellular carcinoma and hepatocellular adenoma (H-subtype); diagnostic/risk-stratification marker; no HNF1A-directed systemic therapy |
| Хвороба | DIS-HCC |
| Рівень ESCAT | IIB |
| Рекомендовані комбінації | Atezolizumab 1200 mg + bevacizumab 15 mg/kg IV q3w — preferred 1L advanced HCC (Child-Pugh A, ECOG 0–1; IMbrave150 OS HR 0.66; not HNF1A-specific), Lenvatinib 12 mg (≥60 kg) or 8 mg (<60 kg) PO QD — 1L alternative HCC (REFLECT; non-inferior to sorafenib; not HNF1A-specific), Hepatic surveillance (MRI liver q6m) ± resection for H-HCA >5 cm or growth — HNF1A-inactivated HCA management (LFABP IHC surrogate; low malignant risk) |
| Підсумок доказів | HNF1A somatic inactivating mutations occur in ~10% of HCC and ~35–40% of hepatocellular adenoma (H-subtype, H-HCA). Clinical utility: (1) HCA subtyping: biallelic HNF1A inactivation defines the H-HCA subtype characterized by steatotic hepatocytes, LFABP (liver fatty acid binding protein) loss by IHC, and very low malignant transformation risk (<1%). H-HCA management: surveillance rather than resection for lesions <5 cm in women who discontinue oral contraceptives; resection for >5 cm or persistent growth. (2) HCC context: somatic HNF1A mutation in HCC is associated with preserved hepatocyte differentiation phenotype (low AFP, well-differentiated histology) but does not select systemic therapy. Standard HCC management applies: lenvatinib or sorafenib 1L; atezolizumab + bevacizumab (IMbrave150) preferred 1L for Child-Pugh A patients without contraindications. (3) Germline HNF1A (MODY3): not an HCC risk factor; separate clinical context (diabetes management), not oncologically relevant in HCC. ESCAT IIB: HNF1A mutation is a validated diagnostic/risk-stratification marker for HCA subtyp... |
Нотатки
ESCAT IIB: HNF1A mutation is a diagnostic/risk-stratification marker primarily for hepatocellular adenoma subtyping, with secondary relevance in HCC phenotyping. Practical notes: (1) For HCA: LFABP IHC (loss of staining) is the validated surrogate for HNF1A inactivation — available in most pathology labs; NGS confirmation adds specificity but is not mandatory if IHC is negative. (2) For HCC on NGS: HNF1A somatic mutation is incidental finding; does not alter NCCN/AASLD treatment algorithm; may correlate with better-differentiated tumor biology. (3) Germline HNF1A (MODY3): sulfonylurea treatment is highly effective; recommend endocrinology referral if germline HNF1A found incidentally in an HCC patient. (4) HNF1A is NOT in routine comprehensive NGS panels for HCC biomarker eligibility (which focuses on VEGF pathway, PD-L1, TMB, MSI for immunotherapy eligibility). DIS-HCC is used as the disease_id for both HCC (~10%) and HCA contexts; HCA has no dedicated disease entity in the KB.
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