10.8 - Colon Flashcards

1
Q

hirschsprung disease is associated with that syndrome?

A

down syndrome

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2
Q

what is the cause of of hirschsprung disease?

A

due to congenital failure of ganglion cells to descend into myenteric and submucosal plexus

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3
Q

hirschsprung disease is due to congenital failure of _____________ to descend into _________ and _________ plexus

A
  • ganglion cells

- myenteric and submucosal

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4
Q

the ganglion cells that fail to descend in hirschsprung disease are derived from ___________

A

neural crest cells

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5
Q

where is the myenteric (auerbach) plexus located? what is its role?

A
  • between inner circular and outer longitudinal muscle layers of muscularis propria
  • regulates motility
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6
Q

where is the submucosal (meissner) plexus located? what is its role?

A
  • submucosa

- regulates blood flow, secretions, absorption

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7
Q

what type of biopsy is necessary to diagnosis hirschsprung disease?

A

rectal SUCTION biopsy (to get submucosa)

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8
Q

(false) colonic diverticula consist of outpouchings of ________ through the ______________

A
  • submucosa

- muscularis propria

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9
Q

generally, where do colonic diverticula arise?

A

where the vasa recta traverse the muscularis propria

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10
Q

what part of the GI tract is the most common site of colonic diverticula?

A

sigmoid

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11
Q

what are the 3 main complications of colonic diverticula?

A
  • rectal bleeding
  • diverticulitis
  • fistula
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12
Q

high stress in the left colon leads to _____________, whereas high stress in the right colon leads to ______________

A
  • diverticula

- angiodysplasia

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13
Q

what is angiodysplasia?

A

acquired malformation of mucosal and submucosal capillary beds

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14
Q

what is the inheritance of hereditary hemorrhagic telangiectasia?

A

AD

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15
Q

ischemic colitis is most often due to atherosclerosis of the ______________

A

SMA

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16
Q

what are the two most common types of colonic polyps?

A
  • hyperplastic

- adenomatous

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17
Q

which type of colonic polyp shows a “serrated” appearance on microscopy?

A

hyperplastic

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18
Q

where do hyperplastic polyps most often arise?

A

left colon (rectosigmoid)

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19
Q

are hyperplastic polyps benign or malignant?

A

benign

20
Q

are adenomatous polyps benign or malignant?

A

benign but premalignant

21
Q

the adenoma-carcinoma sequence involves what genes (in order)?

A

APC - KRAS - p53

22
Q

which gene in the adenoma-carcinoma sequence is responsible for increased risk of formation of a polyp?

A

APC

23
Q

which gene in the adenoma-carcinoma sequence leads to formation of a polyp?

A

KRAS

24
Q

which gene in the adenoma-carcinoma sequence is responsible for progression to carcinoma?

A

p53

25
Q

APC is located on chromosome ____

A

5

26
Q

which medication can impede progression from adenoma to carcinoma in the adenoma-carcinoma sequence? why?

A
  • aspirin

- decreased expression of COX, which allows for progression to carcinoma via p53

27
Q

what is the inheritance of FAP?

A

AD

28
Q

FAP is due to an inherited mutation of ____ on chromosome ____

A

APC on chromosome 5

29
Q

gardner syndrome consists of what constellation of conditions?

A

FAP plus fibromatosis and osteomas

30
Q

what is fibromatosis? where does it arise? with which syndrome is it associated?

A
  • non-neoplastic proliferation of fibroblasts
  • arises in retroperitoneum (desmoid)
  • gardner syndrome
31
Q

turcot syndrome consists of what constellation of conditions?

A

FAP plus CNS tumors (medulloblastoma and glial tumors)

32
Q
  • FAP
  • fibromatosis
  • osteomas

diagnosis?

A

gardner syndrome

33
Q
  • FAP
  • CNS tumors

diagnosis?

A

turcot syndrome

34
Q
  • hamartomatous (benign) polyps throughout GI tract

- mucocutaneous hyperpigmentation on oral mucosa and genital skin

A

peutz-jeghers syndrome

35
Q

what is the inheritance of peutz-jegher syndrome?

A

AD

36
Q

HNPCC is due to inherited mutations in _______ enzymes?

A

DNA mismatch repair

37
Q

what are the 3 types of cancer that arise from HNPCC?

A
  • colorectal
  • ovarian
  • endometrial
38
Q

how do left sided colon carcinomas appear? are these normally due to adenoma-carcinoma sequence or microsatellite instability?

A
  • “napkin ring lesion”

- adenoma-carcinoma sequence

39
Q

how do right sided colon carcinomas appear? are these normally due to adenoma-carcinoma sequence or microsatellite instability?

A
  • raised lesion

- microsatellite instability

40
Q

how do left sided colon carcinomas typically present?

A
  • decreased stool caliber
  • LLQ pain
  • blood streaked stool
41
Q

how do right sided colon carcinomas typically present?

A
  • iron deficiency anemia
  • occult bleeding
  • vague pain
42
Q

an older adult with iron deficiency anemia has _______________ until proven otherwise?

A

colorectal carcinoma

43
Q
  • decreased stool caliber
  • LLQ pain
  • blood streaked stool
A

left sided colon carcinoma

44
Q
  • iron deficiency anemia
  • occult bleeding
  • vague pain
A

right sided colon carcinoma

45
Q

what is the serum marker that is useful for assessing treatment response and detecting recurrence?

A

CEA

46
Q

is CEA useful for screening?

A

NO