Table 1.
Clinical characteristics of the PTEN hamartoma tumor syndrome cohort receiving colonoscopy
| n (%) | |
| Patients with colonoscopy | 5 |
| Female sex | 5 (100) |
| Phenotype | |
| Cowden syndrome | 5 (100) |
| BRRS | 0 (0) |
| PTEN mutation | 4 (80) |
| Family history of PHTS | 2 (40) |
| ICC diagnostic criteria[10] | |
| Pathognomonic | |
| Acral keratoses | 1 (20) |
| Papillomatous lesions | 0 (0) |
| Trichilemmomas | 0 (0) |
| Major criteria | |
| Breast cancer | 4 (80) |
| Dysplastic gangliocytoma of the cerebellum | 0 (0) |
| Endometrial cancer | 0 (0) |
| Macrocephaly | 4 (80) |
| Thyroid cancer | 1 (20) |
| Minor criteria | |
| Benign thyroid lesions | 4 (80) |
| Fibroma | 0 (0) |
| Fibrocystic breast disease | 2 (40) |
| Genitourinary tumors | 1 (20) |
| Hamartomatous intestinal polyps | 1 (20) |
| Lipoma | 3 (60) |
| Mental retardation | 0 (0) |
BRRS: Bannayan-riley-ruvalcaba syndrome; ICC: International cowden consortium; PHTS: PTEN hamartoma tumor syndrome.