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|Ref Type||Journal Article|
|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.|
|Date||2016 Mar 09|
|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.|
|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|