Neoplastic intestinal disorders Flashcards

1
Q

Intraluminal projections of mucosa that are formed of a non-neoplastic mixture of inflammatory cells, stromal and epithelial components

A

Inflammatory polyp

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2
Q

Microscopy of a polyp shows inflamed granulation tissue with mixed inflammatory infiltrates, erosion, and epithelial hyperplasia.

A

Inflammatory polyp

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3
Q

Polyp formed by piling up of goblet and absorptive cells from decreased epithelial turnover and delayed shedding of surface epithelial cells

A

Hyperplastic polyp

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4
Q

Polyp formed by piling up of goblet and absorptive cells from being adjacent to or overlying any mass or inflammatory lesion

A

Hyperplastic polyp

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5
Q

Chief significance of hyperplastic polyps

A

Must be distinguished from sessile serrated adenomas

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6
Q

Smooth, nodular protrusion of the L colonic mucosa, often on the crests of mucosal folds. Microscopy shows mature goblet and absorptive cells with serrated surface.

A

Hyperplastic polyp

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7
Q

Premalignant polyp caused by germline mutations in tumor suppressor genes or proto-oncogenes. Associated with extraintestinal manifestations

A

Hamartomatous polyp

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8
Q

Polyp type of juvenile polyposis

A

Hamatomatous polyp

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9
Q

Inheritance of juvenile polyposis

A

Autosomal dominant

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10
Q

Treatment of juvenile polyposis

A

Colectomy –> limit hemorrhage

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11
Q

Extraintestinal manifestations related to hamartomatous polyps

A

Pulmonary AVMs
Other congenital manifestations

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12
Q

Mutations seen <50% of pts with hamartomatous polyps

A

SMAD4
BMPR1A

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13
Q

Gene mutation associated with both juvenile polyposis and hereditary hemorrhagic telangiectasia

A

SMAD4

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14
Q

<3 cm reddish polyp, typically pedunculated with a smooth surface. Cystic spaces are characteristic.

A

Hamartomatous polyp

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15
Q

Microscopy of colon polyp shows normal or attenuated muscularis mucosae, lamina propria expanded by mixed inflammatory infiltrates, and cystically dilated crypts filled with mucin and inflammatory debris.

A

Hamartomatous polyp

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16
Q

Precursors to colorectal adenocarcinomas

A

Colonic adenomas

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17
Q

Small, pedunculated polyps composed of rounded glands. Mucosal surface is smooth, appearing white or red.

A

Tubular adenoma

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18
Q

White granular mucosa distinct form the normal mucosa on a small sessile polyp with mixed architecture.

A

Serpentine appearance of tubulovillous adenoma

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19
Q

Larger and sessile colonic polyp covered by slender villi. Diffuse nodular appearance.

A

Villous adenoma

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20
Q

Conditions associated with villous adenomatous polyp

A

Hypoproteinemia
Secretory diarrhea
Hypokalemia

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21
Q

Most important characteristic of adenomatous polyps that correlates with malignancy

A

Size

22
Q

Microscopy of polyp found in the R colon shows serrated architecture through the full length of the glands, including the crypt base, crypt dilation, and lateral crypt growth

A

Sessile serrated adenoma

23
Q

Inheritance of Peutz-Jeghers syndrome

A

Autosomal dominant

24
Q

Hereditary syndrome characterized by multiple GI hamartomatous polyps and mucocutaneous hyperpigmentation. Associated with a markedly increased risk of several malignancies throughout childhood and adulthood. Commonly presents between 10-15 yo.

A

Peutz-Jeghers syndrome

25
Q

Tumor that can be present at birth in Peutz-Jeghers syndromes

A

Sex cord tumors of the testes

26
Q

Mutation found in most cases of Peutz-Jeghers syndrome

A

Loss of function mutation in STK11

27
Q

Most common location of polyps in Peutz-Jeghers syndromes

A

Small intestine

28
Q

Syndrome associated with arborizing network microscopy of polyp

A

Peutz-Jeghers

29
Q

Mutation in Cowden syndrome

A

PTEN –> PI3K/AKT pathway

30
Q

Hereditary syndrome associated with hamartomatous and inflammatory intestinal polyps, lipomas, and ganglioneuromas. Mean age of presentation <15 yo

A

Cowden syndrome

31
Q

Standard of care for familial adenomatous polyposis

A

Prophylactic colectomy

32
Q

Common extracolonic sites for neoplasia in familial adenomatous polyposis

A

Ampulla of Vater
Stomach

33
Q

Congenital hypertrophy of the retinal pigment epithelium is associated with what hereditary syndrome

A

Familial adenomatous polyposis

34
Q

Gene mutations associated with familial adenomatous polyposis

A

APC
MUTYH

35
Q

Mean age of presentation in classic FAP

A

10-15 yo

36
Q

Mean age of presentation in attenuated FAP

A

40-50 yo

37
Q

Mean age of presentation in Gardner syndrome and Turcot syndrome

A

10-15 yo

38
Q

Mean age of presentation in MUTYH associated polyposis

A

30-50 yo

39
Q

Extra-GI manifestations in Gardner syndrome

A

Osteomas
Thyroid and desmoid tumors
Skin cysts

40
Q

Extra-GI manifestations in Turcot syndrome

A

Medulloblastoma
Glioblastoma

41
Q

Gene associated with autosomal dominant FAP

A

APC

42
Q

Most common mutations in hereditary non-polyposis colorectal carcinoma

A

MSH2
MLH1

43
Q

Inheritance of hereditary non-polyposis colorectal carcinoma

A

Autosomal dominant

44
Q

Hereditary cancer syndrome associated with consequences in mismatch repair deficiency and resulting microsatellite insufficiency.

A

Lynch syndrome

45
Q

Pharmacologic chemoprevention of colorectal adenocarcinoma

A

COX-2 inhibitors

46
Q

Most common maligancy of GI tract

A

Colorectal adenocarcinoma

47
Q

Stepwise accumulation of multiple mutations in colorectal adenocarcinoma

A

APC –> beta-catenin –> KRAS –> TP53, LOH, and SMAD

48
Q

Mutation in TGFBR2 results in what?

A

Uncontrolled cell growth

49
Q

How to identify microsatellite instability?

A

Absence of immunohistochemical staining for mismatch repair proteins

Molecular genetic analysis of microsatellite sequences

50
Q

Colorectal adenocarcinoma that produces abundant mucin is associated with what prognosis?

A

Poor

51
Q

Dysplastic epithelial cells breach the basement membrane to invade the lamina propria. May extend into, but not through the muscularis mucosa. Complete polypectomy is generally curative and there is little metastatic potential.

A

Intramucosal carcinoma