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%) |
Percent of males.
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.