Hepatocellular adenoma classification: a comparative evaluation of immunohistochemistry and targeted mutational analysis

Diagn Pathol. 2016 Mar 9:11:27. doi: 10.1186/s13000-016-0475-5.

Abstract

Background: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

Publication types

  • Comparative Study
  • Evaluation Study

MeSH terms

  • Adenoma, Liver Cell / chemistry
  • Adenoma, Liver Cell / classification
  • Adenoma, Liver Cell / diagnosis*
  • Adenoma, Liver Cell / genetics
  • Adenoma, Liver Cell / pathology
  • Adolescent
  • Adult
  • Aged
  • Biomarkers, Tumor / analysis*
  • Biomarkers, Tumor / genetics*
  • Child
  • DNA Mutational Analysis*
  • Fatty Acid-Binding Proteins / analysis
  • Female
  • Glutamate-Ammonia Ligase / analysis
  • Hepatocyte Nuclear Factor 1-alpha / genetics
  • Humans
  • Immunohistochemistry*
  • Liver Neoplasms / chemistry
  • Liver Neoplasms / classification
  • Liver Neoplasms / diagnosis*
  • Liver Neoplasms / genetics
  • Liver Neoplasms / pathology
  • Male
  • Middle Aged
  • Mutation*
  • Predictive Value of Tests
  • Reproducibility of Results
  • Retrospective Studies
  • Serum Amyloid A Protein / analysis
  • Young Adult
  • beta Catenin / genetics

Substances

  • Biomarkers, Tumor
  • CTNNB1 protein, human
  • FABP1 protein, human
  • Fatty Acid-Binding Proteins
  • HNF1A protein, human
  • Hepatocyte Nuclear Factor 1-alpha
  • Serum Amyloid A Protein
  • beta Catenin
  • Glutamate-Ammonia Ligase