Intestinal Polyposis Syndromes Flashcards
Indications to consider
- 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
MC inherited colon cancers
lynch syndrome
Who most likely to get lynch syndrome
45yo men
Cause lynch syndrome
autosomal dominant–> DNA mismatch repair
Where is lynch common?
R. colon
MC extracolonic manifestation in lynch
endometrial carcinoma
Turcot syndrome in lynch
gliomas
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
DX lynch syndrome
- colonoscopy with biopsy
- genetic testing of masses
- masses tested for microsatellite instability
Tx lynch syndrome
colectomy
Surveillance of lynch syndrome
yearly colonoscopy 1-2 yrs after starting age of 20-25
Cause of Familial Adenomatous Polyposis
autosomal dominant–> mutation in APC gene
Who more likely to get Familial Adenomatous Polyposis
16yo and both sexes common
What are the chances someone with Familial Adenomatous Polyposis gets cancer?
100%, around age 39
Gardner syndrome
FAP ptn with extracolonic malgnancy
MC extracolonic malignancy in Familial Adenomatous Polyposis
Desmoid tumor
Turcot Syndrome in Familial Adenomatous Polyposis
FAP ptn with medulloblastoma
What is the most common Familial Adenomatous Polyposis related to gastric polyp?
fundic gland polyps
Clinical Familial Adenomatous Polyposis
- present at a young age
- hx rectal bleeding, bowel obstruction, perforation
- family history
- over 100 adenomas on colonoscopy
- extracolonic manifestations
DX Familial Adenomatous Polyposis
- genetic testing of patient and family
- flexible sigmoidoscopy at 10yo
- yearly colonoscopy once polyps detected
Tx Familial Adenomatous Polyposis
- prophylactic colectomy
- chemoprophylaxis with NSAID and COX2- celecoxib
Surveillance Familial Adenomatous Polyposis
- remaining rectum/ ileal pouch needs to be screened every 6mo to 2 yrs
- once 20-25, EGD every 1-3yrs
Cause of familial juvenile polyposis
autosomal dominant–> mutation in SMAD4 or BMPR1A
Where does familial juvenile polyposis occur and what is there?
benign juvenile polyps in the small bowel, stomach, colon, and rectum
Clinical familial juvenile polyposis
- asymptomatic
- painless rectal bleeding
- rectal prolapse
- failure to thrive
- family history
When to screen for familial juvenile polyposis
age 15 get a colonoscopy every 1-3yrs
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
Cause Peutz- Jehgers Syndrome
autosomal dominant
Peutz- Jehgers Syndrome forms what and where?
Gi hemartomatous polyps and mucocutaneous pigmentation in stomach, small bowel and colon
MC extracolonic malignancies in Peutz- Jehgers Syndrome
breast and testicular cancer
DX Peutz- Jehgers Syndrome
genetic testing- STK11 gene
Surveillance Peutz- Jehgers Syndrome
- colonoscopy ever 2-3y starting at 18yo
- EGD every 2-3yr starting at 10yo
- breast and testicular exams
