Mismatch Repair Protein Deficiency/Microsatellite Instability Is Rare in Cholangiocarcinomas and Associated with Distinctive Morphologies

Jennifer Y. Ju, Megan E. Dibbern, Mani S. Mahadevan, Jinbo Fan, Paul R. Kunk, Edward B. Stelow*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

21 Scopus citations

Abstract

Objectives: Although germline mutations of mismatch repair (MMR) genes (Lynch syndrome) are not typically associated with cholangiocarcinomas, the US Food and Drug Administration recently approved the use of pembrolizumab in patients with advanced solid tumors at all sites that show MMR deficiency or associated high microsatellite instability. Methods: We analyzed 96 cases of intra- A nd extrahepatic cholangiocarcinomas for morphology using H&E and for MMR status using immunohistochemical staining. We submitted any results with MMR loss for microsatellite instability testing. Results: We found that 6% of samples showed MMR deficiency. The best predictive factor was a nontypical infiltrating pattern of invasion (P <. 0001). No patients with MMR deficiency had a history of a cancer typically associated with Lynch syndrome. Conclusions: Solid, mucinous, or signet-ring appearance of a cholangiocarcinoma should prompt MMR testing for immunotherapy options but should not necessarily raise concern about Lynch syndrome.

Original languageEnglish (US)
Pages (from-to)598-604
Number of pages7
JournalAmerican journal of clinical pathology
Volume153
Issue number5
DOIs
StatePublished - Apr 15 2020

Keywords

  • Biliary
  • Cholangiocarcinoma
  • MMR
  • MSI
  • Microsatellite
  • Mismatch repair
  • Mucinous
  • PD-1
  • Signet ring
  • Solid

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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