Stage IV perihilar cholangiocarcinoma with loss of expression of MSH2 and MSH6: hereditary cancer syndrome?

Rev Esp Enferm Dig. 2024 Apr;116(4):234-235. doi: 10.17235/reed.2023.9724/2023.

Abstract

We present the case of a 69-year-old male diagnosed with stage IV perihilar cholangiocarcinoma with loss of expression of MSH2 and MSH6 proteins, but somatic wild type MSH2 and MSH6 genes with Oncomine Comprehensive Assay (OCA) genomic sequencing panel. In his cancer family history, there was a maternal aunt with sigmoid colon adenocarcinoma also missing MSH2 and MSH6 protein expression. Subsequently, we will discuss whether or not we are facing a hereditary cancer syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma* / pathology
  • Aged
  • Bile Duct Neoplasms* / genetics
  • Colonic Neoplasms*
  • Colorectal Neoplasms, Hereditary Nonpolyposis* / diagnosis
  • Colorectal Neoplasms, Hereditary Nonpolyposis* / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis* / pathology
  • Humans
  • Klatskin Tumor* / genetics
  • Male
  • MutS Homolog 2 Protein / genetics
  • Neoplastic Syndromes, Hereditary*

Substances

  • MutS Homolog 2 Protein
  • MSH2 protein, human