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Robbins Pathology GI (Chptr 16,17,18,19) > Chapter 17-Table 17.10 > Flashcards

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

A

10-15

22
Q

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

A

APC

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
Q

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

A

40-50

26
Q

With regards to attenuated Familial adenomatous polyposis: what is the mutated pathway

A

APC

27
Q

With regards to garner syndrome: what is the age of presentation

A

10-15

28
Q

With regards to garner syndrome: what is the mutated gene

A

APC

29
Q

With regards to garner syndrome: what is the increased risk

A

Multiple adenomas

30
Q

With regards to garner syndrome: what is the extraGI manifestations

A

Osteomas, thyroid and Desmond tumors, skin cysts

31
Q

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

A

10-15

32
Q

With regards to Turcot syndrome: what is the mutated gene

A

APC

33
Q

With regards to Turcot syndrome: what is the increased risk

A

Multiple adenomas

34
Q

With regards to Turcot syndrome: what is the extra GI manifestations

A

Mudduloblastoma, glioblastoma

35
Q

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

A

30-50

36
Q

With regards to MYH associated polyposis: what is the mutated gene

A

MYH

37
Q

With regards to MYH associated polyposis: what is the increased risk

A

Multiple adenomas

Robbins Pathology GI (Chptr 16,17,18,19) (32 decks)

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