Polyposis Syndromes

Question 1

Most common hamartomatous syndrome, AD, associated with macrocephaly, MR, cleft lip or palate, CHR, genitourinary malformation and malrotation

Answer 1

JUVENILE POLYPOSIS SYNDROME

Question 2

2nd MC hamartomatous syndrome, AD, associated with germ line mutations STK11 at ch 19p14

Consists of perioral buccal and occasionally genital melanin pigmentation with GI hamartomatous polyposis

Answer 2

Peutz Jeghers Syndrome

Question 3

Autosomal dominant condition with nearly complete penetrance by 20 yrs old

Caused by a germ line mutation in PTEN tumor suppressor gene at 10q22

Answer 3

Cowden Syndrome

Question 4

Autosomal dominant adenomatous polyp with near complete penetrance

Generic defect: APC gene on 5q21

Characterized by >100 of afenomatous intestinal polyps and turn into cancer by 40-45

Associsted with devt of duodenal adenomas and desmoid tumors

Answer 4

Familial adenomatous polyposis

Question 5

Patients with <100 colorectal polyps (1-50)

Also carry an APC gene mutation

Right sided polyps (proximal to splenic flexuee)

Answer 5

ATTENUATED FAP

Question 6

Colorectal adenomatous polyposis and CNS tumors

Answer 6

Turcot Syndrome