Table 2.
Clinical and pathological histories of the individuals carrying APC 11307K or E1317Q
| APC variant | Subject | Sex | Age, years | Tumors found at each colonoscopy, by site and type
|
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total polyps†
|
Rectum | Sigmoid colon | Descending colon | Splenic flexure | Transverse colon | Hepatic flexure | Ascending colon | Caecum | |||||
| Adenomas | MP | ||||||||||||
| E1317Q | 2-80 | M | 59 | 6 | 3 | mT,‡ moTV, sTV, MP | MP(2) | mT, moTV | mT | ||||
| 62 | 8 | 5 | mT(2), MP(2) | ||||||||||
| 66 | 16 | 5 | mT | mT(4) | mT(3)§ | ||||||||
| 69 | 24 | 5 | mT | mT | mT(5) | mT | |||||||
| E1317Q | 2-82 | M | 48 | 2 | 4 | mT, MP | sT, MP(3) | ||||||
| 49 | 3 | 12 | mT, MP(3) | MP | MP | MP | MP(2) | ||||||
| 56 | 6 | 17 | MP(3) | mT(2), MP | MP | mT | |||||||
| E1317Q | 3-02 | F | 39 | 0 | 0 | Carcinoma | |||||||
| 40 | 0 | 0 | |||||||||||
| 45 | 1 | 0 | mT | ||||||||||
| 49 | 1 | 0 | |||||||||||
| 53 | 1 | 0 | |||||||||||
| E1317Q | 3-22 | F | 39 | 0 | 0 | Carcinoma | |||||||
| 45 | 1 | 1 | MP | mT | |||||||||
| 48 | 2 | 1 | mT | ||||||||||
| 51 | 3 | 1 | mT | ||||||||||
| 54 | 3 | 1 | |||||||||||
| I1307K | 1-14 | M | 39 | 3 | 1 | mT | MP | mT | mT | ||||
| I1307K | 2-33 | M | 57 | 3 | 0 | mT(2), mTV | |||||||
| 65 | 5 | 0 | mT | mT | |||||||||
| 69 | 6 | 2 | mT, MP | MP | |||||||||
| 73 | 6 | 2 | Nil | ||||||||||
| I1307K | 2-49 | M | 63 | 1 | 0 | sT/TV¶ | |||||||
| 70 | 5 | 0 | moTV | mT | mS | mT | |||||||
| 74 | 5 | 0 | Nil | ||||||||||
| 77 | 17 | 0 | mT(4) | mT(3) | mT(2), mS(2), mTV | ||||||||
Age at which colonoscopies were performed.
Cumulative totals to age shown.
Tumors shown by histology. Adenomas, histological grade: m, mild dysplasia; mo, moderate dysplasia; s, severe dysplasia; and type: T, tubular; TV, tubulovillous; S, serrated. MP, metaplastic polyps. If more than one polyp are of the same type, the total is shown in parentheses. Nil, colorectum clear of tumors at colonoscopy.
One microadenoma also noted in mucosal biopsy of the caecum.
¶ Reported by the referring hospital as: “Pedunculated ‘malignant’ polyp at 22 cm snared and removed”; no other details were available. Thereafter, annual rigid sigmoidoscopies were carried out until age 70 years, when, after rectal bleeding, a colonoscopy was performed with findings as shown.