Table 1

NGS results of patients

Case 1A*Case 1B*Case 2Case 3
Mismatch repair (MMR) status
MMR statusDeficientDeficientDeficientDeficient
Microsatellite instability (MSI) status
CGP-derived MSI (FoundationONE)MSI-HMSI-HCould not be determinedCould not be determined
WES-derived MSI (MANTIS algorithm ran after Natera WES)MSI-HSample not availableMSI-HMSI-H
Tumor mutational burden (TMB), Muts/Mb
TMB, CGP-derived (FoundationONE)336428120
TMB, WES-derived
(Natera WES)
43Not available35131
Point mutations (FoundationONE panel)
MMR-related genesMSH6 R248fs*8MSH6
MLH1 R265C,
MSH3 E512*,
MSH6 E368*, E1234*
BRCA/DNA-repair-related genesFANCA P1324fs*39FANCA P1324fs*39,
ATM E1892*,
ATM F61fs*15
ATME 522*,
BRCA1 R1699W
  • *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.