Table 2.
Main genomic characteristics predicting outcome in HGT1 bladder cancer.
| Good outcome | Recurrent | Progression | Microstaging pT1b (deeper level of invasion) |
|
|---|---|---|---|---|
| TMB | High | Low | Intermediate | |
| Mutation frequency analysis | ERCC2 (P#< 0.003, q = 0.1) | RHOB and ARID1A (q > 0.1, P# < 0.05) | TP53, ATM, ARID1A, AHR, SMARCB1 (q > 0.1, P# < 0.05) | |
| BRCA2 (P# < 0.05) but q > 0.1 | ||||
| Mutations in DDR genes (P = 0.007) | ||||
| Mutational signature analysis | COSMIC2 (C>T mutations at TCW; P = 0.047) | |||
| COSMIC 5 in ERCC2 mutants (P = 0.0002) | ||||
| MSig clustering | MSig3 (associated with ERCC2 mutations and COSMIC5; 7/7 GO; P = 0.13) | MSig1 (P = 0.04) | MSig4 with high APOBEC activity and TP53 mutations (3/6 PD) | MSig4 (highest APOBEC with TP53 mut; 5/6 pT1b) |
| CN alterations | Focal PVRL4 amplification (P = 0.08) CDKN2A deletion (PD&R, P = 0.04) Focal CCNE1 amplification (PD&R, P = 0.04) |
|||
| MutCN clusters | MutCN2 in 73% of GO (P = 0.04) | MutCN1 cluster-enrich (PD&R, P = 0.04) | MutCN1 clustering has 89% of pT1b samples (P = 0.05; TP53, E2F3.amp, CCNE1.amp, other focal CN events) | |
Note: P#, empirical P value from the random permutation method correcting for heterogeneous mutation burdens among different outcome groups.