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©2014 Baishideng Publishing Group Co.
World J Gastroenterol. Feb 21, 2014; 20(7): 1833-1838
Published online Feb 21, 2014. doi: 10.3748/wjg.v20.i7.1833
Published online Feb 21, 2014. doi: 10.3748/wjg.v20.i7.1833
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) |
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Citation: Stanich PP, Pilarski R, Rock J, Frankel WL, El-Dika S, Meyer MM. Colonic manifestations of
PTEN hamartoma tumor syndrome: Case series and systematic review. World J Gastroenterol 2014; 20(7): 1833-1838 - URL: https://www.wjgnet.com/1007-9327/full/v20/i7/1833.htm
- DOI: https://dx.doi.org/10.3748/wjg.v20.i7.1833