cancer predisposition

Question 1

Cowden syndrome

Answer 1

hamartomas of the mucosal membranes and are at risk of developing breast, thyroid, and endometrial cancer.

Question 2

Gardner syndrome

Answer 2

at risk of colon carcinoma and hepatoblastom

Question 3

Colon cancer in APC

Answer 3

Colon carcinoma in APC+ patients
Surveillance guidelines
* Annual sigmoidoscopy from age 13-15
* Prophylactic colectomy between 16 and 20 years
* Three yearly upper GI from age 30 years (5-10% risk small bowel carcinoma)

Question 4

Abdominal ultrasound every 3 months to screen *** and **

Answer 4

Wilms tumor and hepatoblastoma in BWS

Question 5

Abdominal ultrasound every 3 months to screen for ** with urine catecholamine screening

Answer 5

Neuroblastoma

Question 6

Annual whole body MRI to screen for sarcoma and ultrasound every 3 to 4 months to evaluate for adrenocortical carcinoma

Answer 6

Li-frameni

Question 7

Brain MRI every 6 months to evaluate for pineoblastoma

Answer 7

Germline RB

Question 8

Brain MRI every 6 months to evaluate for central nervous system rhabdoid tumor

Answer 8

germline SMARCB1 mutation