Table 1.
Three families reported with MSH3-related polyposis coli
| Age at diagnosis of polyposis (in years) | Total number of colorectal polyps | Age at last colonoscopy | Total number of gastric polyps | Total number of duodenal polyps | Occurrence of malignancy or high grade dysplastic polyps (age at diagnosis in years) | Benign extra intestinal lesions (age at diagnosis in years) | |
|---|---|---|---|---|---|---|---|
|
Family 1 Adam et al. [7] c.1148delA, c.3001 − 2A > C |
NR | > 1 | NR | NR | > 1 |
Rectal adenocarcinoma (56) Signet cell gastric carcinoma (59) |
Small bilateral renal cysts |
| 36 | ≥ 40 | NR | NR | > 1 |
Thyroid adenoma (35) Uterine polyp and leiomyomas (44) Intraductal papillomas mammary glands (44) |
||
|
Family 2 Adam et al. [7] c.2319 − 1G > A, c.2760delC |
32 | > 1 | NR | NR | > 1 | Astrocytoma (26) |
Ovarian cysts, including dermoid cyst (27) Uterine myoma (34) Follicular thyroid adenomas (43) Cutaneous fibrolipoma (43) Flat epithelial atypia, multiple peripheral small intraductal papillomas, usual ductal hyperplasias, and cysts with apocrine metaplasia in mammary glands (46) |
| 33 | > 1 | NR | NR | NR | |||
|
Family 3 (present study) c.2409C > A, c.(1340 + 1_1341-1)_(2655 + 1_2656-1)del |
46 | 34 | 53 | 0 | 0 | Primary carcinoma of ectopic axillary breast tissue (45), colorectal adenoma with high-grade dysplasia (46) | |
| 55 | 54 | 56 | 0 | 0 | Rectal adenocarcinoma (55) | Liver cysts (55) | |
| 53 | 50 | 59 | 0 | 0 | Liver cysts (59) | ||
| 59 | > 18 | 61 | 0 | 0 | Colorectal adenoma with high-grade dysplasia (59) | Liver cysts |
NR not reported