Genetic and transcriptional insights into immune checkpoint blockade response and survival: lessons from melanoma and beyond.

ABSTRACT:

Background

Integration of immune checkpoint inhibitors (ICIs) with non-immune therapies relies on identifying combinatorial biomarkers, which are essential for patient stratification and personalized treatment.

Methods

We analyzed genomic and transcriptomic data from pretreatment tumor samples of 342 melanoma patients treated with ICIs to identify mutations and expression signatures associated with ICI response and survival. External validation and mechanistic exploratory analyses were conducted in two additional datasets to assess generalizability.

Results

Responders were more likely to have received anti-PD-1 therapy rather than anti-CTLA-4 and exhibited a higher tumor mutation burden (both P < 0.001). Mutations in the dynein axonemal heavy chain (DNAH) family genes

SUBMITTER: Wen J 

PROVIDER: S-EPMC12020166 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature