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Ref Type Journal Article
PMID (26961851)
Authors Margolskee E, Bao F, de Gonzalez AK, Moreira RK, Lagana S, Sireci AN, Sepulveda AR, Remotti H, Lefkowitch JH, Salomao M
Title Hepatocellular adenoma classification: a comparative evaluation of immunohistochemistry and targeted mutational analysis.
Journal Diagnostic pathology
Vol 11
Issue
Date 2016 Mar 09
URL
Abstract Text Four subtypes of hepatocellular adenomas (HCA) are recognized: hepatocyte-nuclear-factor-1α mutated (H-HCA), β-catenin-mutated type with upregulation of glutamine synthetase (b-HCA), inflammatory type (IHCA) with serum-amyloid-A overexpression, and unclassified type. Subtyping may be useful since b-HCA appear to have higher risk of malignant transformation. We sought to apply subtype analysis and assess histological atypia, correlating these with next-generation sequencing analysis.Twenty-six HCA were stained with serum amyloid A (SAA), liver fatty acid-binding protein (LFABP), glutamine synthetase (GS), and β-catenin IHC, followed by analysis with a targeted multiplex sequencing panel.By IHC, 4 HCA (15.4 %) were classified as b-HCA, 11 (42.3 %) as IHCA, 9 (34.6 %) as H-HCA, and two (7.7 %) unclassifiable. Eight HCA (30.8 %) showed atypia (3 b-HCA, 4 IHCA and 1 H-HCA). Targeted sequencing confirmed HNF1A mutations in all H-HCA, confirming reliability of LFABP IHC in identifying these lesions. CTNNB1 mutations were detected in 1 of 4 (25 %) of GS/β-catenin-positive cases, suggesting that positive GS stain does not always correlate with CTNNB1 mutations.Immunohistochemistry does not consistently identify b-HCA. Mutational analysis improves the diagnostic accuracy of β-catenin-mutated HCA and is an important tool to assess risk of malignancy in HCA.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
HNF1A N237S missense unknown HNF1A N237S lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). N237S has been identified in sequencing studies (PMID: 26961851, PMID: 24735922, PMID: 20393147), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, May 2020).
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
HNF1A inact mut hepatocellular adenoma not applicable N/A Clinical Study Diagnostic Inactivating mutations in HNF1A (TCF1) are used in the diagnosis of the HCA-H subtype of hepatocellular adenoma (PMID: 25076298, PMID: 26961851, PMID: 25434466). 25076298 25434466 26961851