NGS results of patients
| Case 1A* | Case 1B* | Case 2 | Case 3 | |
| Mismatch repair (MMR) status | ||||
| MMR status | Deficient | Deficient | Deficient | Deficient |
| Microsatellite instability (MSI) status | ||||
| CGP-derived MSI (FoundationONE) | MSI-H | MSI-H | Could not be determined | Could not be determined |
| WES-derived MSI (MANTIS algorithm ran after Natera WES) | MSI-H | Sample not available | MSI-H | MSI-H |
| Tumor mutational burden (TMB), Muts/Mb | ||||
| TMB, CGP-derived (FoundationONE) | 33 | 64 | 281 | 20 |
| TMB, WES-derived (Natera WES) | 43 | Not available | 351 | 31 |
| Point mutations (FoundationONE panel) | ||||
| BRAF | Wild-type | Wild-type | Wild-type | V600E |
| KRAS | Wild-type | Wild-type | A59T | Wild-type |
| NRAS | Wild-type | Wild-type | Wild-type | Wild-type |
| MMR-related genes | MSH6 R248fs*8 | MSH6 R248fs*8 | MLH1 R265C, MSH3 E512*, MSH6 E368*, E1234* | Wild-type |
| BRCA/DNA-repair-related genes | FANCA P1324fs*39 | FANCA P1324fs*39, ATM E1892*, ATM F61fs*15 | ATME 522*, BRCA1 R1699W | Wild-type |
| ARID1A | Wild-type | S254fs*146 | R693* | Wild-type |
*The first patient as noted had NGS testing done twice. Initially (case 1A) was on a colonoscopy biopsy of the primary tumor before chemotherapy and immunotherapy exposure. The second sample was a supraclavicular lymph node biopsy post-PD-1 progression. While there could be inherent differences both intratumoral (primary vs metastatic) and temporal (over time or secondary to treatment), these cannot be attributed to treatment alone.
CGP, comprehensive genomic profiling; MSI-H, MSI high; WES, whole exome sequencing.