GI Cancer Syndromes

Question 1

FAP Inheritance Pattern, which chromosome?

Answer 1

Autosomal dominant, chromosome 5, APC tumor suppressor

Question 2

When to start screening patients with FAP?

Answer 2

At age 16 with yearly flex sig

Question 3

When to space out screening in FAP?

Answer 3

When 40 if no polyposis

Question 4

Extracolonic features of FAP (Gardner’s Syndrome)

Answer 4

Mandibular or Skull osteomas
Desmoid Tumors
Lipomas
Supernumerary Teeth
Mesenteric Fibromatosis

Question 5

Non-colonic GI involvement of FAP? How to screen

Answer 5

Duodenal or ampullary carcinoma. Need EGD with side viewer q1-3 years

Question 6

Lynch Syndrome Genetics

Answer 6

Autosomal Dominant mismatch repair gene mutations (MLH1, MSH2, MSH 6, PMS2, EPCAM)

Question 7

Difference between Lynch syndrome colon cancer and FAP colon cancer? Does this change screening?

Answer 7

Lynch is predominantly right sided, so need full colonoscopy to screen, not just flex sig

Question 8

Extracolonic manifestations of Lynch Syndrome

Answer 8

Ureteral Cancer, Ovarian Cancer, Stomach cancer, small intestinal cancer, biliary Cancer

With cutaneous cancers, called Muir-Torre Variant

Question 9

Amsterdam Criteria for HNPCC?

Answer 9

3-2-1
3 Close relatives
2 generations
1 HNPCC cancer before 50

Question 10

Tuberous Sclerosis Inheritance?

Answer 10

Autosomal dominant

Question 11

Tuberous Sclerosis Colon Findings?

Answer 11

Hamartomas, colonic neurogangliomas

Question 12

Tuberous Sclerosis extracolonic manifestations

Answer 12

Facial angiofibromas, epilepsy, bone cysts, renal cysts, cardiac rhabdomyomas

Question 13

Peutz-Jehger Syndrome Genetics and Inheritance

Answer 13

Mutation in serine/threonine kinase Chromosome 9, Autosomal Dominant

Question 14

Peutz-Jehger Syndrome Symptoms

Answer 14

Hamartomas in the colon, hyperpigmentation of lips

Question 15

3 cancers associated with Peutz-Jehger Syndrome?

Answer 15

Sertoli cell tumor (men)
Ovarian Sex-cord tumor (women)
Pancreas cancer (both)

Question 16

Two tier 1 recommendations for colorectal cancer screening?

Answer 16

Colonoscopy q10
FIT yearly

Question 17

Are the following good or bad prognosis for colon cancer? BRAF, MSI H?

Answer 17

BRAF poor prognosis
MSI H good prognosis

Question 18

How often to conduct surveillance on serrated polyposis syndrome (5 serrated polyps >5mm, with 2>1cm)?

Answer 18

1-2 years

Question 19

Do you need to do genetic testing for one isolate juvenile polyp?

Answer 19

No, not necessary for 1 juvenile polyp (approx 1 percent of people)

Question 20

Mutation that causes hereditary diffuse gastric cancer? Other cancer risk? How to treat?

Answer 20

CDH1- also increases risk of breast cancer. Tx with prophylactic gastrectomy

Question 21

Virchow node?

Answer 21

L supraclavicular node in gastric Ca

Question 22

Sister Mary Joseph nodule

Answer 22

Umbilical nodule (GI malignancy)

Question 23

Krugenberg Tumor

Answer 23

Bilateral ovarian tumor from metastatic stomach malignancy

Question 24

What does MUTYH mutation cause?

Answer 24

Attenuate FAP

Question 25

When to start colon cancer screening in Lynch Syndrome? Anything for prevention?

Answer 25

25 or 35, can do aspirin chemoprevention

Question 26

When to conduct post-surgery colonoscopy after colon cancer?

Answer 26

3-6 months, then year 1, year 4, year 9

Question 27

Juvenile polyposis genes?

Answer 27

SMAD4
BMPR1A