Fig. 2: The genomic landscape of patients with metastatic urothelial carcinoma treated with pembrolizumab.

Whole-genome sequencing data from biopsy samples of patients with metastatic urothelial carcinoma (n = 70) are displayed according to treatment response at 6 months of therapy (responder: ongoing complete or partial response, or stable disease, n = 24; non-responder: progressive disease, n = 46). Genomic and clinical features are listed from top to bottom as follows: genome-wide tumor mutational burden (TMB), and classification into high and low; total number of missense mutations; clonal fraction of mutations; APOBEC enrichment analysis showing tumors with no-, low-, medium- and high-APOBEC mutagenesis; genomic subtypes according to mutational signatures³⁰; single base substitution (SBS); mutational signatures according to COSMIC v3.1; genome-wide mean ploidy; tumor purity; homologous recombination (HR) status; tumors with at least one chromothripsis event; PD-L1 combined positivity score (CPS) according to the companion diagnostic assay of pembrolizumab (positive: CPS ≥ 10, negative: CPS < 10, or not available (NA)); female patients; age at time of biopsy; metastatic site from which a biopsy was obtained; primary tumor location (bladder or upper tract urothelial carcinoma, UTUC); and patients who received systemic treatment prior to start of anti-PD-1 therapy. Source data are provided as a Source Data file.