Table 2 Key characteristics of hypermutated gliomas
Tumor # | pre vs post TMZ | IDH1 status | TMB | Msh2 | Msh6 | Mlh1 | Pms2 | MMR mutations (AF) | pattern of MMR IHC loss |
|---|---|---|---|---|---|---|---|---|---|
1 | post | WT | > 50.0 | lost | lost | retained | retained | MSH2 stop gain (14.8%) MSH2 stop gain (9.7%) | homogeneous |
2 | post | WT | 67.8 | lost | lost | retained | retained | MSH2 stop gain (33.0%) | homogeneous |
3 | post | mut | 108.7 | retained | lost | retained | retained | MSH6 stop gain (26.1%) MSH6 frameshift (16.6%) | homogeneous |
4 | post | mut | 65.0 | retained | retained | lost | lost | PMS2 missense (7.2%) MLH1 copy loss | heterogeneous |
5 | post | mut | 27.0 | lost | lost | retained | retained | MSH2 splice variant (37.8%) MSH2 stop gain (7.7%) | homogeneous |
6 | post | WT | 58.0 | lost | lost | retained | retained | MSH6 stop gain (27.5%) MSH6 missense (29.4%) | heterogeneous |
7 | post | mut | 70.5 | lost | lost | retained | retained | MSH2 stop gain (74.0%) | heterogeneous |
8 | post | mut | 20.8 | lost | lost | retained | retained | PMS1 missense (32.5%) MSH6 missense (11.2%) | heterogeneous |
9 | post | WT | 29.5 | retained | retained | retained | retained | ATM splice variant (10.5%) | none |