Large Intestine - 2

Question 1

Nonfamilial syndrome of gastrointestinal hamartomatous polyposis, skin pigmentation, and alopecia.

Treatment?

Answer 1

Cronkite-Canada syndrome

Steroids and azathioprine

Question 2

Underlying mechanism of the disease with a loss of expression of MSH2? Other mechanism?

Answer 2

Lynch syndrome

deletion of EPCAM

Otherwise germline mutation in any DNA mismatch repair genes

Question 3

In addition to a germline mutation, patients must meet this criteria in order to get diagnosed with Lynch syndrome

If they do not have the germline mutations, but meet criteria they have?

Answer 3

Amsterdam I and Amsterdam II criteria

Familial Colorectal cancer type X

Question 4

Most common hereditary colon cancer syndrome?

Answer 4

Lynch syndrome

Question 5

Microsatellite instability (MSI) results from loss of?

MSI-high vs MSI-low tumors - Which has the worse prognosis?

Answer 5

Impaired DNA mismatch repair

MSI-low has worse prognosis

Question 6

Patients who fulfill Amsterdam I criteria but without microsatellite instability (no loss of mismatch repair genes)?

Answer 6

Familial colorectal cancer type X

Question 7

Variant of Lynch syndrome with dermatological sequela - sebaceous gland tumors, basal cell or squamous cell carcinoma, and and keratoacanthomas?

Answer 7

Muir Torre

Question 8

Named guidelines for when to test for Lynch syndrome?

Answer 8

Revised Bethesda guidelines

Question 9

Mutation present in sporadic colon cancer?

Answer 9

BRAF

Question 10

Polyps with carcinoma in situ without invasion beyond the muscularis mucosa?

If there is invasion beyond muscularis mucosa?

Answer 10

Advanced polyps

Malignant polyps

Question 11

FOBT vs FIT?

FOBT false positive with?

Answer 11

Detects the presence of heme; Uses antibodies to detect human globin

Vitamin C

Question 12

Multitarget stool DNA test?

Answer 12

Cologuard