Table 1.
Patient and tumour characteristics
| Patient | Gender | Tumour site | Age at diagnosis | Stage | Immunohistochemistry results | MSI analysis | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CK7 | CK20 | CDX2 | SATB2 | MLH1 | MSH2 | MSH6 | PMS2 | ||||||
| Case 1 | Male | Gallbladder | 72 | NA | +/− | + | + | + | + | + | + | + | NA |
| Colon (descending) | 66 | T4N1 | +/− | + | + | + | + | + | + | + | NA | ||
| Case 2 | Female | Gallbladder | 51 | T3N0 | + | − | − | − | +/− | + | + | +/− | MSS |
| Rectum | 51 | T3N1 | − | +/− | + | + | + | + | + | + | MSS | ||
| Case 3 | Male | Gallbladder | 64 | T3N1 | − | + | + | +/− | + | + | + | + | NA |
| Colon (sigmoid) | 64 | T4N1 | − | + | + | + | + | + | + | + | NA | ||
| Case 4 | Male | Gallbladder | 69 | T3N0 | − | +/− | + | − | + | + | + | + | NA |
| Colon (sigmoid) | 74 | T2N0 | − | + | + | + | + | + | + | + | NA | ||
| Case 5 | Female | Gallbladder | 69 | T2Nx | +/− | − | + | − | + | + | + | + | MSS |
| Colon (sigmoid) | 69 | T3N1 | +/− | +/− | + | + | NA | NA | NA | NA | MSS | ||
| Case 6 | Female | Gallbladder | 80 | T3Nx | + | + | − | − | + | + | + | + | NA |
| Rectum | 78 | T3N1 | − | + | + | + | + | + | + | + | NA | ||
| Case 7* | Male | Gallbladder | 57 | NA | + | − | − | − | +/− | + | + | − | MSS |
| Colon (caecum) | 53 | T3N1 | − | +/− | + | + | − | + | + | − | MSI | ||
| Colon (hepatic flexure) | 53 | T3N0 | − | − | + | + | − | + | + | − | MSI | ||
| Case 8 | Male | Gallbladder | 67 | T3Nx | +/− | +/− | +/− | − | + | + | + | + | NA |
| Colon (ascending) | 67 | T3N0 | +/− | +/− | +/− | − | + | + | + | + | NA | ||
| Control 1 † | Male | Gallbladder | 50 | T2Nx | + | + | + | − | + | + | + | + | MSS |
| Colon (ascending) | 55 | NA | + | − | − | NA | NA | NA | NA | NA | MSS | ||
| Control 2 ‡ | Male | Gallbladder | 64 | T1Nx | + | − | +/− | NA | + | + | + | + | NA |
| Rectum | 64 | T3N0 | − | − | − | − | + | + | + | + | NA | ||
NA, Not assessable/not assesed; MSS, Microsatellite stability; MSI, Microsatellite instability.
*
Case 7 developed two colorectal cancers (CRCs) and one gallbladder cancer (GBC).
†
Control 1 developed a GBC first.
‡
The CRC of control 2 was a neuro‐endocrine tumour.