| ID | Issue Type | IHC | Molecular | ctMSI | ctCGP |
Germline Pathogenic
MMR Variant |
Status | ICI |
ICI
Response |
| Tissue testing discordance | |||||||||
| 1 | IHC vs. molecular assay | pMMR | MSI-high | Not tested | Not tested | Not tested | MSI | Yes | CR |
| 2 | Uncommon IHC (equivocal staining and uncommon pairing) | Equivocal-MSH2/PMS2 (not confirmed) | Not tested | Not tested | Not tested | Not tested | MSS | No | |
| 3 | Uncommon IHC (equivocal staining) | Equivocal-MSH2 (not confirmed) | Not tested | ctMSS | None | Not tested | MSS | No | |
| 4 | Uncommon IHC (equivocal staining) | Equivocal-PMS2 | MSS | ctMSS | Not tested | None | MSS | No | |
| 5 | Uncommon IHC (equivocal staining) | Equivocal-PMS2 (not confirmed) | Not tested | Not tested | Not tested | Not tested | MSS | No | |
| 6 | Uncommon IHC (equivocal staining) | Heterogenous MLH1 | MSS | ctMSS | Not tested | Not tested | MSS | No | |
| 7 | Uncommon IHC (isolated loss and spatial heterogeneity) | dMMR-MSH6 (primary, not confirmed) pMMR (meta) |
MSS | Not tested | Not tested | None | MSS | No | |
| 8 | Uncommon IHC (isolated loss and spatial heterogeneity) | pMMR (primary) dMMR-MSH6 (meta) |
MSI-high | Not tested | Not tested | MSH6 | MSI | Yes | CR |
| 9 | Uncommon IHC (isolated loss and spatial heterogeneity) | pMMR (primary) dMMR-PMS2 (meta) |
MSI-high | ctMSS | None | Not tested | MSI | Yes | PR |
| 10 | Uncommon IHC (isolated loss) | dMMR-MLH1 | Not tested | Not tested | Not tested | Not tested | MSI | No | |
| 11 | Uncommon IHC (isolated loss) | dMMR-MLH1 | Not tested | Not tested | Not tested | Not tested | MSI | Yes | SD |
| 12 | Uncommon IHC (isolated loss) | dMMR-MSH6 | MSI-high | Non-informative | Non-informative | MSH6 | MSI | Yes | CR |
| 13 | Uncommon IHC (isolated loss) | dMMR-MSH6 | MSI-high | Not tested | Not tested | None | MSI | Yes | CR |
| 14 | Uncommon IHC (isolated loss) | dMMR-MSH6 | MSI-high | Not tested | Not tested | Not tested | MSI | No | |
| 15 | Uncommon IHC (isolated loss) | dMMR-MSH6 (not confirmed) | MSS | ctMSS | None | None | MSS | No | |
| 16 | Uncommon IHC (isolated loss) | dMMR-PMS2 | MSI-high | ctMSI-high | None | Not tested | MSI | Yes | CR |
| 17 | Uncommon IHC (isolated loss) | dMMR-PMS2 | MSI-high | ctMSS | PMS2 c.137G>T (VAF 46%) | PMS2 | MSI | Yes | CR |
| 18 | Uncommon IHC (isolated loss) | dMMR-PMS2 | MSI-high | Not tested | Not tested | Not tested | MSI | Yes | CR |
| 19 | Uncommon IHC (isolated loss) | dMMR-PMS2 | MSI-low | Not tested | Not tested | Not tested | MSS | Yes | PD |
| 20 | Uncommon IHC (isolated loss) | dMMR-PMS2 | MSS | ctMSS | None | Not tested | MSS | No | |
| 21 | Uncommon IHC (isolated loss) | dMMR-PMS2 | MSS (Idylla) MSI-high (Pentaplex) |
Not tested | Not tested | Not tested | MSI | No | |
| 22 | Uncommon IHC (spatial heterogeneity) | Equivocal-MLH1/PMS2 (primary) pMMR (meta) |
Primary not tested Meta MSS |
ctMSS | None | None | MSS | Yes | PD |
| 23 | Uncommon IHC (uncommon pairing) | dMMR-MLH1/MSH6 | Not tested | Not tested | Not tested | Not tested | MSI | No | |
| Tissue vs. blood discordance | |||||||||
| 24 | Blood missed | dMMR-MLH1/PMS2 | MSI-high | ctMSS | None | None | MSI | No | |
| 25 | Blood missed | dMMR-MLH1/PMS2 | MSI-high | ctMSS | None | None | MSI | Yes | SD |
| 26 | Blood missed | dMMR-MLH1/PMS2 | MSI-high | ctMSS | None | Not tested | MSI | Yes | PD |
| 27 | Tissue missed | pMMR | Not tested | ctMSS | PMS2 W841* (VAF 29.9%) | Not tested | MSI | No | |
| 28 | Tissue missed | pMMR | MSS | ctMSI-high | Not tested | Not tested | MSI | No | |
| 29 | Tissue missed | pMMR | Not tested | ctMSS | MSH6 splice site 3801+1G>T (VAF 0.99%) | Not tested | MSI | No | |
| 30 | Tissue missed | pMMR | Not tested | ctMSS | None | MSH6 | MSI | No | |
| 31 | Tissue missed | pMMR | Not tested | ctMSS | MLH1 S131* (VAF 1.4%) | Not tested | MSI | No | |
| 32 | Tissue missed | pMMR | Not tested | Not tested | Not tested | PMS2 | MSI | No |