Primary mucinous adenocarcinoma of the epididymis: report of a rare case with molecular genetic characterization including mutation analysis of the TP53 gene

Appl Immunohistochem Mol Morphol. 2015 Apr;23(4):308-12. doi: 10.1097/PAI.0b013e3182389663.

Abstract

We report a case of primary epididymal mucinous adenocarcinoma in a 60-year-old man who presented with a scrotal mass and subsequently developed pulmonary metastases. On immunohistochemistry the tumor was positive for villin and CK20 and negative for CK7, CDX2, and thyroid transcription factor-1. Molecular genetic analysis revealed an uncommon mutation; 249: AGG →ATG in the TP53 gene, which has not been previously described in association with a primary epididymal adenocarcinoma. Mutational analysis showed KRAS, BRAF, and VHL to be wild-type. No microsatellite instability was found.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma, Mucinous / genetics*
  • Adenocarcinoma, Mucinous / metabolism
  • Adenocarcinoma, Mucinous / pathology
  • Epididymis / metabolism
  • Epididymis / pathology
  • Genital Neoplasms, Male / genetics*
  • Genital Neoplasms, Male / metabolism
  • Genital Neoplasms, Male / pathology
  • Humans
  • Lung Neoplasms / genetics*
  • Lung Neoplasms / metabolism
  • Lung Neoplasms / pathology
  • Lung Neoplasms / secondary
  • Male
  • Middle Aged
  • Mutation*
  • Neoplasm Metastasis
  • Tumor Suppressor Protein p53 / genetics*
  • Tumor Suppressor Protein p53 / metabolism

Substances

  • TP53 protein, human
  • Tumor Suppressor Protein p53