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 |
Tumor # corresponds to each specimen listed in Additional file 1: Table S1. TMB tumor mutation burden; AF allelic fraction; IHC immunohistochemistry