GI - Familial CRC Syndromes And GI Polyps Flashcards
1
Q
FAP: what does it stand for? Dominance and gene affected
A
- Familial Adenomatous Polyposis
- APC gene on 5q21
2
Q
FAP: presentation
A
- 100s-1000s of adenomas by 16 ya (mainly in large bowel but also in stomach and duodenum - near ampulla)
- 100% develop CRC - often by 40 ya
- May be associated with congenital hyper trophy of the retinal pigment epithelium
3
Q
FAP: Mx
A
- Prophylactic colectomy before 20 years
- Total colectomy + IRA: requires life-long long stump surveillance
- Proctocolectomy + IPAA
- Remains at risk of Ca in stomach and duodenum so need regular endoscopic screaming
4
Q
Hereditary Non-Polyposis Colorectal Cancer: dominance and mutations
A
- Autosomal Dominant
- Mutation of mismatch repair enzymes - eg MSH2
- Commonest cause of hereditary CRC
5
Q
HNPCC: presentation
A
- Lynch 1: right sided CRC
- Lynch 2: CRC + gastric, endometrial, prostate and breast
6
Q
Peutz-Jeghers Syndrome: dominance and mutation
A
- Autosomal dominant
- STK11 mutation
7
Q
P-J Syndome: presentation
A
- presents at 10-15 ya
- Mucocutaneous hyperpigmentation (macules on palms, buccaneers mucosa)
- Multiple GI hamartomatous polyps (intussussception/haemorrhage)
- Increased Ca risk (small but present): CRC, pancreas, breast, lungs, ovaries and uterus
8
Q
GI Polyps: Inflammatory polyps
-What are they associated with?
A
-Regenerating islands of mucosa in UC
9
Q
GI Polyps: hyperplastic polyps
A
- Pilling up of goblet cells and absorptive cells
- Serrated surface architecture
- No malignant potential
10
Q
GI Polyps: Hamartomatous
A
- Tumour-like growths composed of tissues present at site where they develop
- Sporadic or part of familial syndromes (eg Peutz-Jeghers)
11
Q
GI Polyps: neoplastic
-features
A
- tubular or villous adenomas
- usually asymptomatic
- May have PR blood/mucus and tenesmus
