Mismatch repair deficiency assessment by immunohistochemistry: for Lynch syndrome screening and beyond

Future Oncol. 2018 Nov;14(26):2725-2739. doi: 10.2217/fon-2018-0319. Epub 2018 Jul 13.

Abstract

While mismatch repair (MMR) deficiency has been studied extensively, the assessment of MMR status in colorectal and other cancers remains highly relevant, particularly in light of recent data demonstrating that MMR deficiency is a strong predictor for treatment benefit with immune checkpoint inhibitors across multiple tumor types. In colorectal cancer, there is a growing consensus in support of routine MMR testing for Lynch syndrome screening, to inform prognosis and adjuvant chemotherapy use in early stage disease, and to predict response to immunotherapy in advanced disease. Here, we provide a review of the Ventana MMR Immunohistochemistry Panel, which was recently approved by the US FDA for use in Lynch syndrome screening.

Keywords: biomarkers; gastrointestinal/colorectal; pathology.

Publication types

  • Review

MeSH terms

  • Antineoplastic Agents, Immunological / therapeutic use*
  • Biomarkers, Tumor / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis / pathology
  • Colorectal Neoplasms, Hereditary Nonpolyposis / therapy
  • DNA Mismatch Repair / genetics*
  • Genetic Predisposition to Disease
  • Genetic Testing / methods*
  • Humans
  • Immunohistochemistry / methods
  • Mass Screening / methods
  • Neoplasm Staging
  • Prognosis
  • Treatment Outcome

Substances

  • Antineoplastic Agents, Immunological
  • Biomarkers, Tumor