Table 6 Colon cancer patients with MMR deficiency detected by IHC, but confirmed to be not HNPCC (N = 5)
Patient No. | Age | Site of Colorectal Cancer | Family History | Bethesda Criteria Met | MMR Protein Deficiency by IHC | Genomic Sequencing | MLH1 Promoter Methylation | Stage | Adjuvant Treatment | Survival and follow-up (as of Jan 2017) |
|---|---|---|---|---|---|---|---|---|---|---|
102 | 61 | Sigmoid | None | No | PMS2 | Not performed | Detected | T4N0M1 Stage IV | None | (n/a since 2007) |
127 | 77 | Ascending | None | No | MLH1, PMS2 | Not performed | Detected | T3Â N0Â Stage IIA | None | 77Â m (54Â m since last f/u) |
224 | 34 | Sigmoid | None | Yes #1 | MLH1, MLH2 | A variant of unknown significance in APC gene: c.95A > G | Not Detected | T4aN2 Stage IIIC | Oxaliplatin5-FuLeucovorin | 26 m alive (1 m since last f/u) Recurrence March 2016 |
235 | 74 | Ascending | None | Yes #2 | MLH1, PMS2 | None detected | Detected | T3N1Â Stage IIIB | None | 23Â m alive (0Â m since last f/u) |
281 | 40 | Sigmoid | None | Yes #1 | MLH1, PMS2 | None detected | Detected | T4aN0 Stage IIB | None | 48 m alive (3 m since last f/u) |