Polyposis

Question 1

FAP

Answer 1

Autosomal dominant

Mutation of APC

Hundreds of polyps

Extracolonic lesions

Will develop CRC

Young age

Question 2

FAP- Extracolonic manifestations

Answer 2

Osteomas

Skin- fibromas, lipomas, epidermoid cysts

Eye CHRPE

Neoplasms:
    Thyroid
     Small bowel/ampulla 
     Hepatoblastoma
     Angiofibroma

Question 3

Screening

Answer 3

1st degree relatives

Colon at 12 then q2 years after 25
and q3 years after 35

APC gene test (test of choice) start at 10-12 years

Question 4

fAP treatment and f/u

Answer 4

Ileostomy

Ileorectal anastomosis

Proctocolectomy with ileoanal pull through

F/U:
   Survey rectum q year and ostomy q2 Years
    EGD
    Thyroid scan
     Desmoids

Question 5

aFAP

Answer 5

Less than 100 polyps on the right
Develop CRC later about 51
Need colonoscopy surveillance
Colectomy is treatment

Question 6

MUTYH

Answer 6

Gastric polyps
Duodenal adenoca

Increased risk of breast, ovarian urinary and skin

Not have 
  Osteomas
   Thyroid
   CHRPE 
    Desmoids

Question 7

CRails syndrome

FAP with meduloblastoma 

Turcos syndrome
MMR mutation oligopolyposis glioblastoma

Answer 7

Ok

Question 8

Peutz Jegher Syndrome

Answer 8

Autosomal dominance 
Mucocutaneous pigment
Hamartoma polyps
    Usually small bowel but also gastric and colon
     1-20
 sTK 11 gene

Life span 60% alive at age 60

93% risknof cancer
Breast colon pancreas ovarian testes

Txment remove polyps
Survey: endoscopy small bowel X-ray MRI/EUS; mammograms trans vag u/s;

Question 9

Juvenile polyposis

Answer 9

Auto dominant
Polyps usually in colon
Also gastric, duodenal and pancreatic

Risk of colon cancer is 39%

Management:
Colonoscopy
EGD
Start at 12

Question 10

Colon cancer

Answer 10

Risk factors
HIGH: Fam history; age; country; FAP MAP Lynch syndrome; ureterosigmoidostomy PJ JP SP

MODERATE: Red meat: h/o adenoma; Pelvic RT; young age of uterine/ovarian Ca; dermatomyositis
IBD; strep bovis; acromegaly

MODEST: high fat and calorie; diet; smoking; Etoh obesity; tall; CCK; RT of prostate and DM

Question 11

Colon cancer protective factors

Answer 11

High fruit and veggie diet

Exercise
adequate folate 
high calcium 
fiber 
statins
 hormone therapy 
NSAIDs 
? Selenium

Question 12

Serrated Polyps

Answer 12

Hyper plastic

Sessile serrated adenoma is pre-malignant
Treat like an adenoma

Surveillance 
   No polyp or <10mm hyperplastic  repeat 10 yrs
   1-2 <10 mm TA 5-10 yrs
    3-10 TA 3 Years 
    >10 adenoma < 3 Years 
    Tubular adenoma > 10 mm 3 yrs
     Villous adenoma.   3 yrs
     Adenoma with high grade dysphasia.   3 yrs

Question 13

Average screening

Answer 13

Colon q 10 years
Or FIT annually

IBD colon every 1-2 years after 8 years pamcolitis
Colon every 1-2 years after 15 years with left sided colitis

Question 14

Lynch Symdrome
    Autosomal domimant
     Early CRC
     Multiple malignancies
     Other family cancers 
     Proximal locations 

Dx
1 family member with CRC < 50
2 generations with CRC
3 + people with CRC

Microsatellite instability

Answer 14

80%!cance of CRC
    Also endometrial. 60%
             Ovarian
             Ureteral transitional
              Gastric
               Small intestine 
               Hepatobiliary

Screening:
Colon q1-2 yrs at age 20-25 or 2-5 yrs before earliest relative if under 25
Also: EGD at 30 yrs: ueterus bx trans vag u/s for ovarian
Prophylactic TAH BSO

Question 15

LS management
Colectomy with ileorectal anastomoses
Surveillance of rectum
Consider TAH BSO

Answer 15

Familial CRC type X
Neg for MSI
No increase risk of other cancers