Polyps classification:
- Hamartomatous
- Adenomatous
- Inflammatory
- Mixed polyposis syndrome
Eg of hamartomatous polyps
- Solitary Juvenile polyp
- juvenile polyposis dyndrome
- Peutz-Jeghers syndrome
- Phosphatase and tensin homolog gene mutation (PTEN)
a. Bannayan-Riley-Ruvalcaba syndrome
b. Gorlin syndrome
c. cowden syndrome
Eg of adenomatous polyps
- Familial adenomatous syndrome
- Turcot syndrome
- Gardner syndrome
- Lynch syndrome
- MYH-associated polyposis
Solitary Juvenile polyp
painless rectal bleed
<5 in number
mean age 4, (2-6)
often rectosigmoid area
histo: dilated cysts filled with mucin, abundant lamina propria and inflammatory cells
Juvenile polyposis dyndrome
> 5 polyps
genes: SMAD4, BMPR1A. ENG1
Risk of Ca: 68% by age of 60 yo
screen: all family members should be tested for the mutation
EGD/CS: at 10-15 yo e 2-3 yr
if polyp present, yearly until no polyps
then back to e 2-3 yr
Peutz-Jeghers syndrome
AD, genes: STK11 (LKB1)
Dx:
1. 2 polyps with histology PJS
2. Any number polyp + family with PSJ
3. Mucocutanous pig. + family with PSJ
4. Any number polyp + mucocutanous pig.
Ca risk: colon, lungs, testes, breast, uterus, ovaries
Surveillance:
EGD/CS at 8 yo
if polyps seen –> e 3 yr
if no polyps –> start at 18 then e 3 yr
VCE at 8 yo then e 3 yr
Familial adenomatous syndrome
AD, APC gene
EIM:
bone- osetomas, sclerosis
dental-unerupted, supernumery
connective tissue-desmoid tumor
eye-CHRPE
Ca-hepatoblastoma, thyroid, adenal and glioblastoma
Dx:
1. FHx + neg gene–> no f/u
2. FHx + known genotype –> at 10-14yo sigmoidoscopy e yr + CS e 5 yr
3. FH + unknown genotype –> at 10-14yosigmoidoscopy e yr + CS e 5 yr until rectal adenomas found. Then yearly EGD/CS
Medical options for FAP
- Sunlindac
- NSAIDS
- Vit C
DNT replace surgery
Polyps removal
5mm: biopsy forceps
>5mm: snare electrocautery
>2cm: piecemeal removal
