Name: Kok Hing Lim

Theme: Lower GI disease – Hereditary Colorectal Cancer Syndromes

 

OPTION LIST

 

A	Bannayan–Ruvalcaba–Riley syndrome	I
B	Cowden’s syndrome	J
C	Familial adenomatous polyposis	K
D	Gardner syndrome	L
E	Hereditary nonpolyposis colorectal cancer	M
F	Juvenile polyposis syndrome	N
G	Peutz-Jeghers syndrome	O
H	Turcot syndrome	P

 

For each scenario below, choose the most appropriate answer from the list above. Each option may be used once, more than once or not at all.

 

1. A 40 year old woman presents with a 2 month history of malaise, weight loss and constipation and a recent episode of pr bleeding 2 days ago. She has a noticeable goitre, which is found to be multinodular on examination. She has a past history of fibrocystic breast disease and her mother died of breast cancer in her forties (examination of other relevant systems are unremarkable).

 

2. A 20 year old man undergoes a colonoscopy after presenting with a 4 month history of worsening constipation and occasional pr bleeding. His colonic mucosa is lined with numerous polyps and genetic testing reveals a mutation in the APC gene. His father and paternal grandfather both died of colorectal cancer before the age of fifty. 

 

3. A 40 year old man presents with a 3 month history of fatigue, constipation, tenesmus and weight loss. Several small growths are noticeable on his head and jawline (he is bald), which are hard and bony on palpation.

 

4. A 17 year old boy presents with a 2 week history of abdominal pain and pr bleeding. A colonoscopy reveal multiple polyps throughout the colon and a biopsy further reveals  cellular overgrowth along with elongated, frond-like epithelium and a cystic dilatation of glands. He also has a distinct perioral pigmentation.

 

5. A 50 year old woman with a past history of endometrial cancer is recently diagnosed with colorectal cancer. Genetic testing is requested and a mutation in the MLH1 gene is subsequently found.

 

ANSWERS

1. B

2. C

3. D

4. G

5. E