tumor of small & lg bowel Flashcards
Peutz-Jegher Syndrome
AD disesase resulting in multiple benign hamartomas (mature but abnormally arranged in tissue) in entire GI tract (esp small intestine) + buccal melanin pihmentation abnormalities
polyps benign but >50% change of developing CRC
FAP
AD mutation of APC or AR of MUTYH (DNA repair)
HNPCC
NO POLYPS
but AD mutation of mismatch repair genes
most common inherited
known carcinogens
fecal bile acids
heterocyclic amines-mutagenic degradation products
fecapentenes-glycerol ethers produced by anaerobic breakdown of fatty acids
3- ketosteroids- oxidation products of cholesterol- carcinogenic in-vitro
potential protective measures
NSAIDs–>COX2 inhibs
Ca nd vitD–>bind fatty acid and bile acids
folic acid def–>dna hypermethy
Turcot syndrome
APC mutations and CNS
Gardner syndrome
APC mutations- ossesous and soft tissue, retinal depigmentation
juvenile polyposis
involves LP
hamartamous encosilating dilated cystic glands in children <5
extra intenstinal FAP
duodenal and desmoid tumors Mc of death
Lynch 1
HNPCC CRC only
Lynch II
HNPCC CRC + other malig esp endometrial cnacer
polyps of HNPCC tend to be
large w. villous or dysplastic component
flat/serrated adenomas
mostly in prox colon
aggressive in nature
amsterdam criteria for HNPCC
3-2-1 rule
3 relatives with HNPC associated cancer
> 2 successive generations
>1 relative diagnosed before 50
other ways to dx HNPCC
microsatellite instability
IHC for MMR genes
neoplastic
adenoma
