Intestinal Polyposis Syndromes Flashcards
1
Q
Indications to consider
A
- Patient with family history of CRC affecting more than 1 family member
- Personal or family history of CRC developing before age 50
- Personal or family history of more than 20 polyps
- Personal or family history of multiple extracolonic malignancies
2
Q
MC inherited colon cancers
A
lynch syndrome
3
Q
Who most likely to get lynch syndrome
A
45yo men
4
Q
Cause lynch syndrome
A
autosomal dominant–> DNA mismatch repair
5
Q
Where is lynch common?
A
R. colon
6
Q
MC extracolonic manifestation in lynch
A
endometrial carcinoma
7
Q
Turcot syndrome in lynch
A
gliomas
8
Q
Clinical lynch syndrome
A
- present at a young age
- hx rectal bleeding, bowel obstruction, perforation
- family history of this
- patient can be asymptomatic at times
- occasional abdominal pain/ mass
- poorly differentiated tumors in the R. colon
- extracolonic manifestations
9
Q
DX lynch syndrome
A
- colonoscopy with biopsy
- genetic testing of masses
- masses tested for microsatellite instability
10
Q
Tx lynch syndrome
A
colectomy
11
Q
Surveillance of lynch syndrome
A
yearly colonoscopy 1-2 yrs after starting age of 20-25
12
Q
Cause of Familial Adenomatous Polyposis
A
autosomal dominant–> mutation in APC gene
13
Q
Who more likely to get Familial Adenomatous Polyposis
A
16yo and both sexes common
14
Q
What are the chances someone with Familial Adenomatous Polyposis gets cancer?
A
100%, around age 39
15
Q
Gardner syndrome
A
FAP ptn with extracolonic malgnancy
