Polyposis Syndromes

Question 1

AD

• Numerous hamartomas in GI tract
• Hyperpigmented mouth, lips, hands, genitalia
• Increased risk of breast cancer, GI cancers

Answer 1

Peutz-Jeghers syndrome

Question 2

AD

• Children
• Numerous hamartomatous polyps in colon, stomach, small bowel
• Increased risk of CRC

Answer 2

Juvenile polyposis syndrome

Question 3

AD
- Mutation of DNA mismatch repair genes with subsequent microsatellite instability (methylation of MLH1, MSH2, MSH6)
~80% progress to CRC
- Proximal colon is ALWAYS involved
- Associated with endometrial, ovarian, skin cancers

Answer 3

Lynch Syndrome (previously HNPCC)

Question 4

AD
- Mutation of APC gene on 5q
Thousands of polyps arise after puberty
- Pancolonic
- Need colectomy

Answer 4

Familial Adenomatous polyposis

Question 5

FAP + osseous and soft tissue tumors

• Retinal pigmented epithelium
• Supernumary teeth

Answer 5

Gardner syndrome

Question 6

FAP + malignant CNS tumor

Answer 6

Turcot syndrome