Intestinal Polyposis Syndromes Flashcards Preview

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Flashcards in Intestinal Polyposis Syndromes Deck (32):
1

Indications to consider

1. Patient with family history of CRC affecting more than 1 family member
2. Personal or family history of CRC developing before age 50
3. Personal or family history of more than 20 polyps
4. Personal or family history of multiple extracolonic malignancies

2

MC inherited colon cancers

lynch syndrome

3

Who most likely to get lynch syndrome

45yo men

4

Cause lynch syndrome

autosomal dominant--> DNA mismatch repair

5

Where is lynch common?

R. colon

6

MC extracolonic manifestation in lynch

endometrial carcinoma

7

Turcot syndrome in lynch

gliomas

8

Clinical lynch syndrome

- 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

DX lynch syndrome

-colonoscopy with biopsy
- genetic testing of masses
- masses tested for microsatellite instability

10

Tx lynch syndrome

colectomy

11

Surveillance of lynch syndrome

yearly colonoscopy 1-2 yrs after starting age of 20-25

12

Cause of Familial Adenomatous Polyposis

autosomal dominant--> mutation in APC gene

13

Who more likely to get Familial Adenomatous Polyposis

16yo and both sexes common

14

What are the chances someone with Familial Adenomatous Polyposis gets cancer?

100%, around age 39

15

Gardner syndrome

FAP ptn with extracolonic malgnancy

16

MC extracolonic malignancy in Familial Adenomatous Polyposis

Desmoid tumor

17

Turcot Syndrome in Familial Adenomatous Polyposis

FAP ptn with medulloblastoma

18

What is the most common Familial Adenomatous Polyposis related to gastric polyp?

fundic gland polyps

19

Clinical Familial Adenomatous Polyposis

- present at a young age
- hx rectal bleeding, bowel obstruction, perforation
- family history
- over 100 adenomas on colonoscopy
- extracolonic manifestations

20

DX Familial Adenomatous Polyposis

- genetic testing of patient and family
- flexible sigmoidoscopy at 10yo
- yearly colonoscopy once polyps detected

21

Tx Familial Adenomatous Polyposis

-prophylactic colectomy
- chemoprophylaxis with NSAID and COX2- celecoxib

22

Surveillance Familial Adenomatous Polyposis

- remaining rectum/ ileal pouch needs to be screened every 6mo to 2 yrs
- once 20-25, EGD every 1-3yrs

23

Cause of familial juvenile polyposis

autosomal dominant--> mutation in SMAD4 or BMPR1A

24

Where does familial juvenile polyposis occur and what is there?

benign juvenile polyps in the small bowel, stomach, colon, and rectum

25

Clinical familial juvenile polyposis

- asymptomatic
- painless rectal bleeding
- rectal prolapse
- failure to thrive
- family history

26

When to screen for familial juvenile polyposis

age 15 get a colonoscopy every 1-3yrs

27

DX familial juvenile polyposis

- more than 5 juvenile polyps of the colon
- multiple juvenile polyps throughout the GI
- family history of juvenile polyps
- genetic testing

28

Cause Peutz- Jehgers Syndrome

autosomal dominant

29

Peutz- Jehgers Syndrome forms what and where?

Gi hemartomatous polyps and mucocutaneous pigmentation in stomach, small bowel and colon

30

MC extracolonic malignancies in Peutz- Jehgers Syndrome

breast and testicular cancer

31

DX Peutz- Jehgers Syndrome

genetic testing- STK11 gene

32

Surveillance Peutz- Jehgers Syndrome

- colonoscopy ever 2-3y starting at 18yo
- EGD every 2-3yr starting at 10yo
- breast and testicular exams