Peutz-Jeghers Syndrome
Clinical
Mean age at presentation 24 years
1/3 present ≤10 years
May cause bleeding or intussusception
Increased incidence of various cancers
| Site |
Cumulative Lifetime Risk |
| Overall |
93% |
| Stomach |
21% |
| Small intestine |
13% |
| Large intestine |
34% |
| Pancreas |
36% |
| Breast |
54% |
| Ovary |
21% |
| Cervix |
10% |
| Uterus |
9% |
| Testis |
9% |
Data from Girardiello 2000, primarily based on familial cases
- Mean age of diagnosis of cancer 46 years
- Cancers only rarely appear to arise from a pre-existing hamartomatous polyps
- Special associated neoplasms or polyps
- Cervix – adenoma malignum
- Ovary – sex cord tumor with annular tubules
- Testis – multifocal intratubular large cell hyalinizing sertoli cell neoplasm
- Some are invasive and thus designated malignant
- No aggressive behavior has been demonstrated
- Nose – nasal polyps
- Miscellaneous sites of polyps
- Bladder, renal pelvis, bronchi, biliary tract
- Not all well described
