"Pure" hepatoid tumors of the pancreas harboring CTNNB1 somatic mutations: a new entity among solid pseudopapillary neoplasms

Virchows Arch. 2022 Jul;481(1):41-47. doi: 10.1007/s00428-022-03317-4. Epub 2022 Mar 31.

Abstract

Hepatoid tumors (HTs) represent a rare group of neoplasms that are histologically similar to hepatocellular carcinoma but arise outside the liver. The current World Health Organization classification recognizes the hepatoid morphology of pancreatic tumors only as a possible variant of pancreatic ductal adenocarcinoma (PDAC). Here, we describe two cases of "pure" HT of the pancreas showing common features and characterized by indolent biological behavior. These tumors were roundish nodules with pushing borders, hyaline globules, and pure hepatoid histology; they were diffusely positive for β-catenin and LEF1 on immunohistochemistry. At next-generation sequencing, both neoplasms harbored only one pathogenic somatic mutation that affected the CTNNB1 gene at exon 3 and showed a loss of heterozygosity on chromosomes 18 and 21. By integrating macroscopic and microscopic features, along with their molecular profiles, we advocate that such tumors represent a distinct entity from PDAC and should be considered a new variant of solid pseudopapillary neoplasms. The recognition of this new neoplastic category may have immediate implications not only for tumor taxonomy but also for clinical practice.

Keywords: CTNNB1; Hep Par-1; Hepatoid; PDAC; Pancreas; Pancreatic; Pancreatic ductal adenocarcinoma; Solid pseudopapillary.

MeSH terms

  • Biomarkers, Tumor / genetics
  • Carcinoma, Pancreatic Ductal* / genetics
  • Carcinoma, Pancreatic Ductal* / pathology
  • Humans
  • Liver Neoplasms* / genetics
  • Liver Neoplasms* / pathology
  • Mutation / genetics
  • Pancreas / pathology
  • Pancreatic Neoplasms* / genetics
  • Pancreatic Neoplasms* / pathology
  • beta Catenin* / genetics

Substances

  • Biomarkers, Tumor
  • CTNNB1 protein, human
  • beta Catenin