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. 2026 Jun 21;18(12):2006. doi: 10.3390/cancers18122006
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