Microsatellite Instability, Mismatch Repair, and Tumor Mutation Burden in Lung Cancer.

Journal: Surgical pathology clinics
PMID:

Abstract

Since US Food and Drug Administration approval of programmed death ligand 1 (PD-L1) as the first companion diagnostic for immune checkpoint inhibitors (ICIs) in non-small cell lung cancer, many patients have experienced increased overall survival. To improve selection of ICI responders versus nonresponders, microsatellite instability/mismatch repair deficiency (MSI/MMR) and tumor mutation burden (TMB) came into play. Clinical data show PD-L1, MSI/MMR, and TMB are independent predictive immunotherapy biomarkers. Harmonization of testing methodologies, optimization of assay design, and results analysis are ongoing. Future algorithms to determine immunotherapy eligibility might involve complementary use of current and novel biomarkers. Artificial intelligence could facilitate algorithm implementation to convert complex genetic data into recommendations for specific ICIs.

Authors

  • Oana C Rosca
    Molecular Pathologist/Cytopathologist, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell; Department of Pathology and Laboratory Medicine, 2200 Northern Boulevard, Suite 104, Greenvale, NY 11548, USA. Electronic address: orafael@northwell.edu.
  • Oana E Vele
    Molecular Pathologist/Cytopathologist, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell; Department of Pathology and Laboratory Medicine, Lenox Hill Hospital, New York, NY 10075, USA.