Large solid-pseudopapillary neoplasm of the pancreas with aberrant protein expression and mutation of β-catenin: a case report and literature review of the distribution of β-catenin mutation

Intern Med. 2013;52(18):2051-6. doi: 10.2169/internalmedicine.52.9512.

Abstract

Solid-pseudopapillary neoplasms (SPN) are rare pancreatic tumors. The etiology of SPN involves mutations in the gene that encodes β-catenin (CTNNB1). We herein report the case of a 23-year-old woman with a large SPN with proliferating tumor cells that displayed both solid and pseudo-papillary patterns. The simultaneous nuclear accumulation and loss of membrane localization of β-catenin and E-cadherin was specifically observed in the tumor cells. Further, the tumor cells were shown to harbor a missense mutation in exon 3 of CTNNB1. We also present a review of the literature describing the clustering of CTNNB1 mutations in patients with SPN.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Cadherins / metabolism
  • Carcinoma, Papillary / diagnosis
  • Carcinoma, Papillary / genetics*
  • Carcinoma, Papillary / metabolism*
  • Cell Nucleus / metabolism
  • DNA Mutational Analysis
  • Female
  • Humans
  • Mutation
  • Pancreatic Neoplasms / diagnosis
  • Pancreatic Neoplasms / genetics*
  • Pancreatic Neoplasms / metabolism*
  • Young Adult
  • beta Catenin / genetics*
  • beta Catenin / metabolism*

Substances

  • CTNNB1 protein, human
  • Cadherins
  • beta Catenin