GI Cancer Syndromes Flashcards
FAP Inheritance Pattern, which chromosome?
Autosomal dominant, chromosome 5, APC tumor suppressor
When to start screening patients with FAP?
At age 16 with yearly flex sig
When to space out screening in FAP?
When 40 if no polyposis
Extracolonic features of FAP (Gardner’s Syndrome)
Mandibular or Skull osteomas
Desmoid Tumors
Lipomas
Supernumerary Teeth
Mesenteric Fibromatosis
Non-colonic GI involvement of FAP? How to screen
Duodenal or ampullary carcinoma. Need EGD with side viewer q1-3 years
Lynch Syndrome Genetics
Autosomal Dominant mismatch repair gene mutations (MLH1, MSH2, MSH 6, PMS2, EPCAM)
Difference between Lynch syndrome colon cancer and FAP colon cancer? Does this change screening?
Lynch is predominantly right sided, so need full colonoscopy to screen, not just flex sig
Extracolonic manifestations of Lynch Syndrome
Ureteral Cancer, Ovarian Cancer, Stomach cancer, small intestinal cancer, biliary Cancer
With cutaneous cancers, called Muir-Torre Variant
Amsterdam Criteria for HNPCC?
3-2-1
3 Close relatives
2 generations
1 HNPCC cancer before 50
Tuberous Sclerosis Inheritance?
Autosomal dominant
Tuberous Sclerosis Colon Findings?
Hamartomas, colonic neurogangliomas
Tuberous Sclerosis extracolonic manifestations
Facial angiofibromas, epilepsy, bone cysts, renal cysts, cardiac rhabdomyomas
Peutz-Jehger Syndrome Genetics and Inheritance
Mutation in serine/threonine kinase Chromosome 9, Autosomal Dominant
Peutz-Jehger Syndrome Symptoms
Hamartomas in the colon, hyperpigmentation of lips
3 cancers associated with Peutz-Jehger Syndrome?
Sertoli cell tumor (men)
Ovarian Sex-cord tumor (women)
Pancreas cancer (both)
Two tier 1 recommendations for colorectal cancer screening?
Colonoscopy q10
FIT yearly
Are the following good or bad prognosis for colon cancer? BRAF, MSI H?
BRAF poor prognosis
MSI H good prognosis
How often to conduct surveillance on serrated polyposis syndrome (5 serrated polyps >5mm, with 2>1cm)?
1-2 years
Do you need to do genetic testing for one isolate juvenile polyp?
No, not necessary for 1 juvenile polyp (approx 1 percent of people)
Mutation that causes hereditary diffuse gastric cancer? Other cancer risk? How to treat?
CDH1- also increases risk of breast cancer. Tx with prophylactic gastrectomy
Virchow node?
L supraclavicular node in gastric Ca
Sister Mary Joseph nodule
Umbilical nodule (GI malignancy)
Krugenberg Tumor
Bilateral ovarian tumor from metastatic stomach malignancy
What does MUTYH mutation cause?
Attenuate FAP
When to start colon cancer screening in Lynch Syndrome? Anything for prevention?
25 or 35, can do aspirin chemoprevention
When to conduct post-surgery colonoscopy after colon cancer?
3-6 months, then year 1, year 4, year 9
Juvenile polyposis genes?
SMAD4
BMPR1A
