Artificial intelligence-driven microsatellite instability profiling reveals distinctive genetic features in patients with lung cancer.

ABSTRACT:

Background

Microsatellite instability (MSI) has emerged as a predictive biomarker for immunotherapy response in various cancers, but its role in non-small cell lung cancer (NSCLC) is not fully understood.

Methods

The authors used the bioinformatics tool MIAmS to assess microsatellite status from next-generation sequencing (NGS) data using a tailored microsatellite score. Immunohistochemistry (IHC) assays were also performed to evaluate the correspondence between MSI and deficient mismatch repair (dMMR) status. A retrospective analysis of 1547 lung cancer patients was conducted, focusing on those with an MSI phenotype. Clinical characteristics, co-occurring molecular alterations, tumor mutation burden (TMB), and homologous recombination deficiency (HRD) status were evaluated

SUBMITTER: Thomas QD 

PROVIDER: S-EPMC12038786 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature