Table 1. Patients' characteristics and features observed in our PTEN mutation–positive patients.
| All | 10 (100%) |
| Age (mean, s.d.) | 40.8±16.0 (years) |
| Gender | |
| Male | 7 (70%) |
| Female | 3 (30%) |
| Origin | |
| Jew | 7 (70%) |
| Arab | 3 (30%) |
| Head | |
| Macrocephaly | 3 (30%) |
| Lhermitte-Duclos | 1 (10%) |
| Skin | |
| Trichilemmomas | 4 (40%) |
| Penile freckling | 2 (28.5%a) |
| Breast | |
| Cancer | 1 (33.3%b) |
| Thyroid | |
| Cancer | 4 (40.0%) |
| Goiter | 3 (33.3%) |
| Genitourinary | |
| Endometrial fibroid | 1 (33.3%b) |
| Mixed germ cell tumor | 1 (33.3%b) |
| Upper GI | |
| Glycogenic acanthosis | 8 (80%) |
| Gastric hyperplastic | 10 (100%) |
| Gastric hamartomatous polyps | 4 (40%) |
| Duodenal hyperplastic | 9 (90%) |
| Duodenal hamartomatous polyps | 1 (10%) |
| Duodenal adenomatous polyps | 3 (30%) |
| Colon and rectum | |
| Hyperplastic | 8 (80%) |
| Hamartomatous polyps | 5 (50%) |
| Juvenile polyps | 2 (20%) |
| Ganglioneuromatous polyps | 3 (30%) |
| Adenomatous polyps | 3 (30%) |
| Cancer (early age) | 1 (10%) |
a
Percent of males.
b
Percent of females.
Mutation: 350insA (n=2), 302delT (n=3), R335X (n=1), Q244X (n=1), ivs6/A-G (n=2), in one case specific location of the mutation was not reported.