Cancer syndromes

Question 1

Cancers associated with HNPCC

Answer 1

Women with HNPCC have a 80% lifetime risk of endometrial cancer.
Cancers of ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain(GBM most common), and skin.

Question 2

Sorafenib therapy in advanced hepatocellular carcinoma - role

Answer 2

Oral multikinase inhibitor of VEGF, PDGFR, RAF
Effective treatment in advanced HCC.
Median survival+time to radiologic progression increased by nearly 3 months

Question 3

Extracolonic malignancy most strongly associated with HNPCC

Answer 3

Endometrial cancer

Question 4

Colonic polys associated with malignancy

Answer 4

Sessile polyps -usually R sided, mucous cap
Adenomatous polyps -tubular adenoma, tubulo villous
adenoma

Question 5

Bowel cancer screening

Answer 5

50-74, every 2yrs

Question 6

GI genetic conditions

Answer 6

Lynch syndrome MLH1, MSH2, MSH6,PMS2
FAP -APC
Peutz-Jegher -STK-11

Question 7

Amsterdam criteria for Lynch

Answer 7

Atleast 3 relatives with CRC, 1 who is 1st degree relative of other 2
Atleast 2 successive generations involved
Atleast 1 cancer diagnosed before 50

1-2 yrly colonoscopy from age 25
Chemo px with aspirin

Question 8

FAP features

Answer 8

AD
Classical>100adenomas, attenuated -10-100
Ampullary/duodenal CA
Brain , thyroid, liver,osteoma, CHRPE, desmoid tumour
Prophylactic colectomy at age 15-25yrs

Question 9

Peutz-Jegher features

Answer 9

AD
Hamartomatous polyps throughout GI tract
57% lifetime risk of GI cancer, 39% risk of CRC
Extra colonic -breast, pancreas and gynaec CA
Colonoscopy at 8 yrs and every 3 yrs from 18yrs

Question 10

Multitarget stool DNA testing for colorectal cancer

Answer 10

KRAS mutation,NDRG4 methylation, BMP3 methylation, hemoglobin immunoassay

Question 11

Most common genetic mutation in HNPCC

Answer 11

MSH2, MLH1

Question 12

Indications for colectomy in FAP

Answer 12

More than 100 polyps on scopy
Severely dysplastic polyps
Multiple polyps>1cm