Chapter 17-Table 17.10 Flashcards
With regards to Juvenile polyposis: what is the mean age of presentation
<5
With regards to Juvenile polyposis: what is the mutated gene pathway
SMAD4, BMPR1A in the TGF beta pathway
With regards to Juvenile polyposis: what is the lesion
Juvenile polyps
With regards to Juvenile polyposis: what are they at risk for
Gastric, small intestine, colonic, pancreatic adenocarcinoma
With regards to Juvenile polyposis: what is the extraGI manifistations
Congenital malformation
Digital clubbing
With regards to Peutz-jeghers syndrome: what is the mean age of Presentation
10-15
With regards to Peutz-jeghers syndrome: what is the mutated gene/pathway
STK11, AMP kinase pathway
With regards to Peutz-jeghers syndrome: what is the assoacited risks
- Arborizing polyps in small intestine
- Colonic adenocarcinoma
With regards to Peutz-jeghers syndrome: what is the extra-GI manifestations
Pigmented macules, risk of colon, breast, lung, pancreatic, thyroid cancer
With regards to Cowen syndrome: what is the mean age of presentation
<15
With regards to Cowen syndrome: what is the mutated gene/pathway
PTEN in the PI3K pathway
With regards to Cowen syndrome: what is the GI lesions
Hamartomatous/Inflammatory polyps
Intestinal polyps, lipomas, ganglioneuromas
With regards to Cowen syndrome: what is the extra-GI manifestations
-Benign skin tumors, benign and malignant thyroid and breast lesions (No increased risk for GI cancers)
With regards to Cronkhite-canada syndrome: what is the mean age of presentation
> 50
With regards to Cronkhite-canada syndrome: what is the mutated gene/pathway
Nonhereditary
With regards to Cronkhite-canada syndrome: what is the GI lesion
Hamartomatous polyps of the stomach, small intestine
With regards to Cronkhite-canada syndrome: what is the extre GI manifestations
Nail atrophy, hair loss, abnormal skin pigmentation, cachexia, anemia, and fatal in 50%
With regards to Tuberous sclerosis: what is the mutated gene/pathway
TSC1 (hamartin)
TSC2 (tuberin)
MTOR pathway
With regards to Tuberous sclerosis: what is the GI lesion
Hamartomatous polyps
With regards to Tuberous sclerosis: what is the extraGI manifestations
Mental retardation, epilepsy, facial Angio fibroma, CNS tubers, renal angiomyolipoma
With regards to classic Familial adenomatous polyposis: what is the mean age of presentation
10-15
With regards to classic Familial adenomatous polyposis: what is the mutated gene
APC
With regards to all Familial adenomatous polyposis: what is the increased risk
Multiple adenomas
With regards to classic Familial adenomatous polyposis: what is theextra-GI manifestations
Congenital RPE hypertrophy
With regards to attenuated Familial adenomatous polyposis: what is the mean age of presentation
40-50
With regards to attenuated Familial adenomatous polyposis: what is the mutated pathway
APC
With regards to garner syndrome: what is the age of presentation
10-15
With regards to garner syndrome: what is the mutated gene
APC
With regards to garner syndrome: what is the increased risk
Multiple adenomas
With regards to garner syndrome: what is the extraGI manifestations
Osteomas, thyroid and Desmond tumors, skin cysts
With regards to Turcot syndrome: what is the mean age of presentation
10-15
With regards to Turcot syndrome: what is the mutated gene
APC
With regards to Turcot syndrome: what is the increased risk
Multiple adenomas
With regards to Turcot syndrome: what is the extra GI manifestations
Mudduloblastoma, glioblastoma
With regards to MYH associated polyposis: what is the mean age of presentation
30-50
With regards to MYH associated polyposis: what is the mutated gene
MYH
With regards to MYH associated polyposis: what is the increased risk
Multiple adenomas
