Clinicopathological parameters of all patients and of DPYD gene variant carriers
| All* | DPYD gene variant | |||
|---|---|---|---|---|
| Parameter | Patients (n=115) Tumours (n=116) | c.496A>G (n=15) | c.2846A>T (n=6) | c.1679T>G (n=3) |
| Age (years) | ||||
| Mean (range) | 66 (32–88) | 62 (32–88) | 63 (42–77) | 55 (32–65) |
| Gender | ||||
| Male | 56 (48.7%) | 2 (13.3%) | 4 (66.7%) | 1 (33.3%) |
| Female | 59 (51.3%) | 13 (86.7%) | 2 (33.3%) | 2 (66.7%) |
| Clinical stage | ||||
| III | 68 (59.1%) | 10 (66.7%) | 2 (33.3%) | 1 (33.3%) |
| IV | 47 (40.9%) | 5 (33.3%) | 4 (66.7%) | 2 (66.7%) |
| 5-FU chemotherapy | ||||
| Yes | 92 (80%) | 12 (80%) | 3 (50%) | 3 (100%) |
| No | 23 (20%) | 3 (20%) | 3 (50%) | 0 (0%) |
| Anatomic site | ||||
| Caecum | 22 (19%) | 2 (13.3%) | 1 (16.7%) | 1 (33.3%) |
| Ascending | 17 (14.6%) | 3 (20%) | 2 (33.3%) | 0 (0%) |
| Transverse | 11 (9.5%) | 2 (13.3%) | 0 (0%) | 0 (0%) |
| Descending | 19 (16.4%) | 3 (20%) | 1 (16.7%) | 0 (0%) |
| Sigmoid | 19 (16.4%) | 0 (0%) | 0 (0%) | 1 (33.3%) |
| Rectum | 28 (24.1%) | 5 (33.4%) | 2 (33.3%) | 1 (33.3%) |
| pT stage | ||||
| ≤2 | 5 (4.3%) | 0 (0%) | 0 (0%) | 0 (0%) |
| 3 | 90 (78.3%) | 15 (100%) | 4 (66.7%) | 3 (100%) |
| 4 | 20 (17.4%) | 0 (0%) | 2 (33.3%) | 0 (0%) |
| pN stage | ||||
| 0 | 6 (5.2%) | 0 (0%) | 0 (0%) | 0 (0%) |
| 1 | 68 (59.1%) | 14 (93.3%) | 0 (0%) | 2 (66.7%) |
| 2 | 41 (35.7%) | 1 (6.7%) | 6 (100%) | 1 (33.3%) |
| Histological grade | ||||
| High | 1 (0.9%) | 0 (0%) | 0 (0%) | 0 (0%) |
| Moderate | 89 (76.7%) | 14 (93.3%) | 6 (100%) | 3 (100%) |
| Poor | 26 (22.4%) | 1 (6.7%) | 0 (0%) | 0 (0%) |
| Distant metastatic site† | ||||
| Liver | 10 (23.8%) | 1 (25%)† | 0 (0%)† | 1 (33.3%)† |
| Non-liver | 32 (76.2%) | 3 (75%)† | 1 (100%)† | 2 (66.7%)† |
| Other malignant tumour‡ | ||||
| No | 92 (80%) | 11 (73.3%) | 4 (66.7%) | 3 (100%) |
| Skin tumours (BCC, SCC, MM) | 13 (11.3%) | 3 (20%) | 1 (16.7%) | 0 (0%) |
| Urinary bladder cancer | 2 (1.7%) | 0 (0%) | 0 (0%) | 0 (0%) |
| Urinary bladder and pancreatic cancer | 1 (0.9%) | 0 (0%) | 0 (0%) | 0 (0%) |
| Breast cancer | 2 (1.7%) | 0 (0%) | 0 (0%) | 0 (0%) |
| Lung cancer | 2 (1.7%) | 0 (0%) | 1 (16.7%) | 0 (0%) |
| Malignant mesothelioma | 1 (0.9%) | 0 (0%) | 0 (0%) | 0 (0%) |
| Renal cell carcinoma | 1 (0.9%) | 1 (6.7%) | 0 (0%) | 0 (0%) |
| Prostate carcinoma | 1 (0.9%) | 0 (0%) | 0 (0%) | 0 (0%) |
*116 primary tumours of 115 patients were investigated.
†Number of investigated metastatic sites=42 in all patients, four in c.496A>G carriers, one in c.2846A>T carriers, three in c.1679T>G carriers.
‡Not analysed in this study.
BCC,basal cell carcinoma; 5-FU, 5-fluorouracil; MM, malignant melanoma; SCC,squamous cell carcinoma.