Chapter 17-Table 17.10 Flashcards

1
Q

With regards to Juvenile polyposis: what is the mean age of presentation

A

<5

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2
Q

With regards to Juvenile polyposis: what is the mutated gene pathway

A

SMAD4, BMPR1A in the TGF beta pathway

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3
Q

With regards to Juvenile polyposis: what is the lesion

A

Juvenile polyps

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4
Q

With regards to Juvenile polyposis: what are they at risk for

A

Gastric, small intestine, colonic, pancreatic adenocarcinoma

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5
Q

With regards to Juvenile polyposis: what is the extraGI manifistations

A

Congenital malformation

Digital clubbing

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6
Q

With regards to Peutz-jeghers syndrome: what is the mean age of Presentation

A

10-15

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7
Q

With regards to Peutz-jeghers syndrome: what is the mutated gene/pathway

A

STK11, AMP kinase pathway

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8
Q

With regards to Peutz-jeghers syndrome: what is the assoacited risks

A
  • Arborizing polyps in small intestine

- Colonic adenocarcinoma

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9
Q

With regards to Peutz-jeghers syndrome: what is the extra-GI manifestations

A

Pigmented macules, risk of colon, breast, lung, pancreatic, thyroid cancer

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10
Q

With regards to Cowen syndrome: what is the mean age of presentation

A

<15

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11
Q

With regards to Cowen syndrome: what is the mutated gene/pathway

A

PTEN in the PI3K pathway

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12
Q

With regards to Cowen syndrome: what is the GI lesions

A

Hamartomatous/Inflammatory polyps

Intestinal polyps, lipomas, ganglioneuromas

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13
Q

With regards to Cowen syndrome: what is the extra-GI manifestations

A

-Benign skin tumors, benign and malignant thyroid and breast lesions (No increased risk for GI cancers)

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14
Q

With regards to Cronkhite-canada syndrome: what is the mean age of presentation

A

> 50

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15
Q

With regards to Cronkhite-canada syndrome: what is the mutated gene/pathway

A

Nonhereditary

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16
Q

With regards to Cronkhite-canada syndrome: what is the GI lesion

A

Hamartomatous polyps of the stomach, small intestine

17
Q

With regards to Cronkhite-canada syndrome: what is the extre GI manifestations

A

Nail atrophy, hair loss, abnormal skin pigmentation, cachexia, anemia, and fatal in 50%

18
Q

With regards to Tuberous sclerosis: what is the mutated gene/pathway

A

TSC1 (hamartin)
TSC2 (tuberin)
MTOR pathway

19
Q

With regards to Tuberous sclerosis: what is the GI lesion

A

Hamartomatous polyps

20
Q

With regards to Tuberous sclerosis: what is the extraGI manifestations

A

Mental retardation, epilepsy, facial Angio fibroma, CNS tubers, renal angiomyolipoma

21
Q

With regards to classic Familial adenomatous polyposis: what is the mean age of presentation

22
Q

With regards to classic Familial adenomatous polyposis: what is the mutated gene

23
Q

With regards to all Familial adenomatous polyposis: what is the increased risk

A

Multiple adenomas

24
Q

With regards to classic Familial adenomatous polyposis: what is theextra-GI manifestations

A

Congenital RPE hypertrophy

25
With regards to attenuated Familial adenomatous polyposis: what is the mean age of presentation
40-50
26
With regards to attenuated Familial adenomatous polyposis: what is the mutated pathway
APC
27
With regards to garner syndrome: what is the age of presentation
10-15
28
With regards to garner syndrome: what is the mutated gene
APC
29
With regards to garner syndrome: what is the increased risk
Multiple adenomas
30
With regards to garner syndrome: what is the extraGI manifestations
Osteomas, thyroid and Desmond tumors, skin cysts
31
With regards to Turcot syndrome: what is the mean age of presentation
10-15
32
With regards to Turcot syndrome: what is the mutated gene
APC
33
With regards to Turcot syndrome: what is the increased risk
Multiple adenomas
34
With regards to Turcot syndrome: what is the extra GI manifestations
Mudduloblastoma, glioblastoma
35
With regards to MYH associated polyposis: what is the mean age of presentation
30-50
36
With regards to MYH associated polyposis: what is the mutated gene
MYH
37
With regards to MYH associated polyposis: what is the increased risk
Multiple adenomas