Tumors of Small and Large Bowel Flashcards

1
Q

GIST: mutation in what gene?

A

c-Kit

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2
Q

carcinoid tumors of GI tract: symptoms (3)

A

diarrhea, wheezing, elevated serotonin (5-HT) 5-HIAA

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3
Q

dx: growths of normal colonic tissue with distorted architecture

A

hamartoma

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4
Q

juvenile polyposis syndrome: what is it and for what are these patients at increased risk?

A

multiple hamartomatous polyps in stomach, small intestine or colon; colon cancer

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5
Q

Peutz-Jeghers syndrome: what is it and for what are these patients at increased risk?

A

multiple hamartomatous polyps in GI tract associated with hyperpigmentation of mouth, lips, hands; increased risk of cancer in pancreas, lung, and female cancers

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6
Q

what type of polyp is premalignant?

A

sessile serrated

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7
Q

pathogenesis of sessile serrated polyps (3)

A

BRAF mutations, hypermethylation, microsatellite instability

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8
Q

tubular vs. villous adenoma: size, shape, location

A

size: tubular = small; villous = large
shape: tubular = pedunculated; villous = sessile
location: tubular = colon; villous = rectosigmoid colon

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9
Q

dietary risk factors for colorectal carcinoma

A

meat, low fiber

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10
Q

right or left sided colon cancer: iron deficiency anemia

A

right-sided

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11
Q

right or left sided colon cancer: abdominal pain

A

left-sided

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12
Q

right or left sided colon cancer: obstructive

A

left-sided

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13
Q

________ in an older male signifies colon cancer until proven otherwise

A

iron deficiency anemia

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14
Q

adenoma-carcinoma sequence in colorectal carcinoma

A

AK-53:

  1. loss of APC
  2. K-RAS mutation
  3. loss of p53
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15
Q

what does dysfunction of APC cause in the adenoma-carcinoma sequence?

A

decreased cell adhesion and increased cellular proliferation

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16
Q

FAP: gene involved, inheritance, increased risk of what, treatment

A

APC (two-hit hypothesis); autosomal dominant; colon adenocarcinoma; prophylactic colectomy

17
Q

dx: FAP + osseous and soft tissue tumors

A

Gardner syndrome

18
Q

dx: FAP + malignant CNS tumor

A

Turcot syndrome

19
Q

Garner syndrome

A

FAP + osseous and soft tissue tumors

20
Q

Turcot syndrome

A

FAP + malignant CNS tumor

21
Q

MYH protein

A

base excision repair; repairs oxidation-induced DNA damage by removing A mis-paired with G

22
Q

Lynch syndrome: pathogenesis, increased risk of what

A

defect in DNA mismatch repair (MMR) genes with subsequent microsatellite instability; colorectal, endometrial, ovarian, skin cancer

23
Q

microsatellite instability means better or worse clinical outcome and better or response to adjuvant chemo?

A

MSI: better clinical outcome, worse response to adjuvant chemo

24
Q

GIST: most specific marker

A

DOG1

25
Q

genes involved in juvenile polyposis syndrome (2)

A

SMAD4, BMPR1A

26
Q

gene involved in Peutz-Jeghers syndrome

A

STK11

27
Q

distribution of colorectal cancer

A

RAD: rectosigmoid > ascending colon > descending colon

28
Q

risk factors for colorectal carcinoma (2)

A

adenomatous and serrated polyps

29
Q

apple-core lesion on x-ray

A

colorectal carcinoma

30
Q

depth of invasion for TIS, T1, T2, and T3 colorectal cancer

A

TIS: mucosa
T1: submucosa
T2: muscularis externa
T3: serosa

31
Q

define Stage I-IV colorectal cancers

A

Stage I: T1 or T2, N0, M0
Stage II: T3 or T4, N0, M0
Stage III: any T, positive nodes, M0
Stage IV: any T, any N, M1 (distant metastases)

32
Q

2 monoclonal antibodies used for metastatic colorectal cancer

A

bevacizumab, cetuximab

33
Q

monoclonal antibody against EGFR used in colorectal cancer

A

cetuximab

34
Q

contraindications for cetuximab treatment

A

KRAS or BRAF mutations

35
Q

MAP: gene involved

A

MYH

36
Q

4 genes involved in mismatch repair implicated in Lynch syndrome and their respective functions

A

MSH2/MSH6: identifies mismatch

MLH1/PMS2: fixes mismatch