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Pathology > GI Pathology > Flashcards

GI Pathology Flashcards

1
Q

Atresia

A

Most common above bifurcation of trachea

  • sx: regurgitation after feeding
  • portion of conduit replaced by thin noncanalized cord with blind pouches above and below atretic section
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2
Q

Imperforate anus

A

most common form of atresia, failure of cloacal membrane to involute

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3
Q

Fistula

A

Connection between esophagus and trachea or mainstem bronchus
- swallowed material or gastric fluids can enter respiratory tract

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4
Q

Esophageal varices

A

Path: severe portal HTN induces collateral bypass channels between portal and caval circulations
- congested subepi and submucosal veins in distal esaphus
Cause: alcoholic cirrhosis or worldwide schistosomiasis
Morph: dilated veins in distal esophageal and proximal gastric submucosa
- irregular luminal protrusion of overlying mucosa with superficial ulceration, inflammation, adherent blood clots
Sx: varices silent until rupture
- cause hematemesis if rupture
- ruptures from inflammatory erosion, increased venous pressure, increased hydrostatic pressure associated with pressure

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5
Q

Esophageal stenosis

A

incomplete atresia, lumen reduced by fibrous thickened wall

- congenital or inflammatory scarring

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6
Q

Zenker diverticulum

A

Diverticulum in upper esophageal sphincter

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7
Q

Traction diverticulum

A

Diverticulum in esophageal mid point

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8
Q

Epiphrenic diverticulum

A

Diverticulum above LES

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9
Q

Schatzki rings

A

protrusions circumferential and thicker including mucosa, submucosa, and hypertrophic muscularis propria

  • A ring: above gastroesophageal junction with squamous epi
  • B ring: at squamocolumnar junction with gastric cardia type mucosa
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10
Q

Webs

A

Ledgelike protrusions of fibrovascular tissue and overlying epithelium
- most common in upper esophagus
Age: women older than 40

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11
Q

Plummer Vinson Syndrome

A

Mucosal webs, iron deficiency anemia, glossitis, cheilosis

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12
Q

Achalasia

A

Triad: incomplete lower esophageal sphincter, increased LES tone, esophageal aperistalsis
Primary: idiopathic from failure of distal esophageal neurons to induce relaxation of LES during swallowing –> autoimmune
Secondary: Chagas diseases, disorders of vagal dorsal motor nuclei, diabetic autonomic neuropathy, infiltrative disorders

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13
Q

Mallory-Weiss syndrome

A

Superficial longitudinal lacerations at the gastroesophageal junction associated with excessive vomiting
- not completely through mucosa and submucosa
History: severe vomiting or chronic alcoholism

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14
Q

Boerhaave syndrome

A

Transmural and full thickness perforation

  • vomiting on closed UES
  • tear through all the layers
  • no serosa, caustic mediastinitis
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15
Q

Chemical esophagitis

A

alcohol, corrosive acids or alkali, heavy smoking, pills, irradiation, chemotherapy
Sx: pain, dysphagia
- severe is hemorrhage, stricture, perforation
Morph: neutrophilic infiltrates or necrosis, epithelial ulceration with granulation and fibrosis

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16
Q

Infectious esophagitis

A

HSV, CMV, candida
Sx: pain, dysphagia
- severe is hemorrhage, stricture, perforation
Morph: Neutrophilic infiltrates
- candida adherent gray white pseudomembranes composed of fungal hyphae
- HSV is punched out ulcers
- CMV shallower ulcerations with viral inclusions

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17
Q

Reflux esophagitis

A

Caused by GERD and reflux of gastric contents
Path: gastric juices reflux causes mucosal injury
- decreased LES tone and or increased abdominal pressure
- exacerbated by alcohol, tobacco use, obesity, CNS depressants, pregnancy
- hiatal hernia
Morph: hyperemia, edema, basal zone hyperplasia with thinning of superficial epi layers, neutrophil and/or eosinophil infilrtation
Sx: GERD adults over 40, dysphagia, heartburn, regurgitation of gastric contents
- cause hematemsis, melena, stricture or barrett esophagus
Tx: proton pump inhibitors and or H2 histamine receptor antagonists

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18
Q

Eosinophilic esophagitis

A

Adults - food impaction and syphagia
Child - feeding intolerance and GERD
Morph: intraepithelial eosinophils
Does not respond to antibiotics

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19
Q

Barrett esophagus

A

Complication of chronic GERD
- intestinal metaplasia with esophageal squamous mucosa
Age: white man between 40-60
- increased risk of adenocarcinoma
Morph: Gross - patches of red, velvety mucosa extend of gastroesophageal junction “salmon tongue”
Microscopic - intestinal type columnar epithelium with mucin secreting goblet cells
Sx: dysphagia

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20
Q

Achalasia

A

Triad: incomplete lower esophageal sphincter, increased LES tone, esophageal aperistalsis
Primary: idiopathic from failure of distal esophageal neurons to induce relaxation of LES during swallowing –> autoimmune
Secondary: Chagas diseases, disorders of vagal dorsal motor nuclei, diabetic autonomic neuropathy, infiltrative disorders

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21
Q

Squamous cell carcinoma - esophagus

A

Age: adults over 45
Gender: men more than women, blacks more
Risk: alcohol and tobacco use, esophageal injury, achalasia, plummer-vinson, scalding hot beverages
Path: environment and diet, alcohol and tobacco
- polycyclic hydrocarbons, nitrosamines, HPV
Morph: middle 1/3 of esophagus
- gray-white plaque thickenings
- exophytic lesions, ulcerate, infiltrative with wall thickening and luminal stenosis
- lymph network, tumors can invade
- moderately to well differentiated
Sx: dysphagia, obstruction, weight loss, hemorrhage, sepsis

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22
Q

Boerhaave syndrome

A

Transmural and full thickness perforation

  • vomiting on closed UES
  • tear through all the layers
  • no serosa, caustic mediastinitis
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23
Q

Chemical esophagitis

A

alcohol, corrosive acids or alkali, heavy smoking, pills, irradiation, chemotherapy
Sx: pain, dysphagia
- severe is hemorrhage, stricture, perforation
Morph: neutrophilic infiltrates or necrosis, epithelial ulceration with granulation and fibrosis

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24
Q

Infectious esophagitis

A

HSV, CMV, candida
Sx: pain, dysphagia
- severe is hemorrhage, stricture, perforation
Morph: Neutrophilic infiltrates
- candida adherent gray white pseudomembranes composed of fungal hyphae
- HSV is punched out ulcers
- CMV shallower ulcerations with viral inclusions

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25
Q

Reflux esophagitis

A

Caused by GERD and reflux of gastric contents
Path: gastric juices reflux causes mucosal injury
- decreased LES tone and or increased abdominal pressure
- exacerbated by alcohol, tobacco use, obesity, CNS depressants, pregnancy
- hiatal hernia
Morph: hyperemia, edema, basal zone hyperplasia with thinning of superficial epi layers, neutrophil and/or eosinophil infilrtation
Sx: GERD adults over 40, dysphagia, heartburn, regurgitation of gastric contents
- cause hematemsis, melena, stricture or barrett esophagus
Tx: proton pump inhibitors and or H2 histamine receptor antagonists

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26
Q

pyloric stenosis

A

congenital anomalies
Gender: male > female
Association: Turner syndrome and trisomy 18
Sx: regurgitation and projectile vomiting within 3 weeks of birth
- pyloric hypertrophy, feel olive at myometric process
- peristalsis externally visible
Acquired: adults from chronic antral gastritis, peptic ulcers close to pylorus, malignancy

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27
Q

Barrett esophagus

A

Complication of chronic GERD
- intestinal metaplasia with esophageal squamous mucosa
Age: white man between 40-60
- increased risk of adenocarcinoma
Morph: Gross - patches of red, velvety mucosa extend of gastroesophageal junction “salmon tongue”
Microscopic - intestinal type columnar epithelium with mucin secreting goblet cells
Sx:

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28
Q

Adenocarcinoma - esophageal

A

Evolve from Barrett esophagus
Age: white men
Path: Stepwise genetic and epigenetic alterations from Barrett esopahgus
- p53 accumulate early, then ERB and cyclin D1 and E genees and mutations in Rb and p16
Morph: Gross - exophytic nodules to excavated and infiltrative masses, mostly distal 1/3 esophagus
Micro - tumors produce mucin and form glands
- signet ring tumors are less common
Sx: Dysphagia, weight loss, hematemesis, chest pain, vomiting

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29
Q

Squamous cell carcinoma - esophagus

A

Age: adults over 45
Gender: men more than women, blacks more
Risk: alcohol and tobacco use, esophageal injury, achalasia, plummer-vinson, scalding hot beverages
Path: environment and diet, alcohol and tobacco
- polycyclic hydrocarbons, nitrosamines, HPV
Morph: middle 1/3 of esophagus
- gray-white plaque thickenings
- exophytic lesions, ulcerate, infiltrative with wall thickening and luminal stenosis
- lymph network, tumors can invade
- moderately to well differentiated
Sx: dysphagia, obstruction, weight loss, hemorrhage, sepsis

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30
Q

Cardia of stomach - histology

A

foveolar cells –> mucin secreting

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31
Q

fundus of stomach - histology

A

parietal cells –> acid secretion (HCl - H+)

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32
Q

body of stomach - histology

A

chief cells –> pepsin (digestive enzyme)

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33
Q

antrum of stomach - histology

A

gcell –> gastrin (stimulates cardia: luminal secretion of acid)

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34
Q

pyloric stenosis

A

congenital anomalies
Gender: male > female
Association: Turner syndrome and trisomy 18
Sx: regurgitation and projectile vomiting within 3 weeks of birth
- pyloric hypertrophy, feel olive at myometric process
- peristalsis externally visible
Acquired: adults from chronic antral gastritis, peptic ulcers close to pylorus, malignancy

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35
Q

Ectopia (3 places)

A
  1. Gastric tissue - proximal esophagus leading to dysphagia and esophagitis
  2. Intestine or colon - occult blood due to peptic alteration
  3. Pancreatic tissue - occurs in esophagus and stomach in pylorus
    - inflammation, scarring, obstruction
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36
Q

Hiatal hernia (2 types)

A
  1. sliding type: relaxation or adipose pushing stomach through the ring
  2. rolling type: paraesophageal is worse, venous occlusion and strangulation
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37
Q

Acute gastritis

A

Transient mucosal inflammatory process
Path: protection overwhelmed, increased acid production, decreased bicarb or mucin, or direct mucosal damage
- Ex: NSAIDS and alcohol and smoking
- decr bicarb, interferes with PGE
Morph: Grossly - edema and hyperemia with hemorrhage
micro - neutrophils invade epithelium with sloughing and fibrinous luminal exudate

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38
Q

Acute gastric ulceration

A

Focal, acute mucosal defect
- complication of NSAID or severe stress
Stress ulcers - occurs after shock, sepsis, severe trauma
Curling ulcers - proximal duodenum associated with burns or trauma
Cushing ulcers - gastric, duodenal, esophageal ulcers in patients with intracranial disease
Path: Brain injury - vagal stimulation causing gastric acid hypersecretion
Morph: smaller than 1 cm in diameter, multiple and shallow
Sx: bleeding, possible transfusion, can perforate

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39
Q

Chronic gastritis (3 types)

A

H. pylori, autoimmune, uncommon forms

40
Q

H. pylori gastritis

A

Mucosal inflammation with mucosal atrophy
- spread fecal-oral, oral-oral, lower SES and crowding
Path: antral gastritis, increased acid production and disruption of normal mucosal protection mechanisms
- virulence: motility via flagella, urease production via gastric acid, bacterial adhesins to bind surface epi cells, toxins
Morph: Grossly: infected mucosa erythematous and coarse to nodular
microscopic: bugs in antrum at superficial mucosa, diffuse atrophy with lympoid aggregates with germinal centers
Dx: antibody serologic test, urea breath test, bacterial culture, DNA tests
Risk factor: peptic ulcer disease, gastric adenocarcinoma, gastric lymphoma

41
Q

Carcinoid tumor

A

Carcinoma like tumors arise from distributed endocrine cells
- most arise in the gut, some in small intestine
Morph: Gross - yellow-tan intramural or submucosal masses forming small poypoid masses
Micro - islands to sheets of uniform cohesive cells with scant granular cytoplasm and oval stippled nuclei, pos for neuroendocrine markers
Sx: 6th decade, indolent, slow growing malignancies
Primary site of tumor
Foregut tumors - esophagus, stomach, duodenum rarely metastosize and cured by resection
Midgut carcinoids - jejunum and ileum multiple and aggressive
Hindgut carcinoids - appendix and colon, found only incidentally

42
Q

Uncommon forms of gastritis (4 types)

A

Reactive gastropathy - NSAID or bile reflux
Eosinophilic gastritis - heavy eosinophilic infilration due to allergy to ingested material or scleroderma
Lymphocytic gastritis - celiac disease idiopathic affecting women
Granulomatous gastritis - granulomas, sarcoid, crohn disease, infections

43
Q

Menetrier Disease

A 
Diffuse foveolar cell hyperplasia
- systemic hypoproteinemia caused by overexpression of TGF-alpha
- increased risk of gastric adenocarcinoma
Age: 30-60
Location: body and fundus
Cell type: mucous
infiltrate: limited
Sx: hypoproteinemia, wt loss, diarrhea
Assoc: gastric adenocarcinoma
44
Q

Zollinger-Ellison Syndrome

A

Caused by gastrin secreting tumors (gastrinomas) in small bowel or pancreas
- multiple duodenal ulcers and/or chronic diarrhea
- Elevated gastrin levels increase in gastric parietal cells
- associated with MEN I
Age: 50
Location: fundus
Cell: parietal > mucous, endocrine
Infiltrates: PMN
Sx: peptic ulcers
Associated with: MEN

45
Q

Inflammatory and hyperplastic polyps

A

Age: 50-60, associated with chronic gastritis

- can be multiple but are innocuous

46
Q

Fundic gland polyps

A

Age: women older than 50

  • or in FAP
  • increased by proton pump inhibitors and consequent increased gastrin secretion
  • irregular, cystically dilated glands with minimal inflammation
47
Q

Adenomatous polyp

A

Occur with FAP or chronic gastritis with atrophy and intestinal metaplasia, males > females

  • usually solitary, less than 2 cm
  • associated with adenocarcinoma
48
Q

Lymphoma (MALT)

A

Stomach - associated with H. pylori
- t(11, 18) –> API2 and MLT (cyclin D1 and apoptosis inhibition)
- continuous NF-kB activation, promoting B cell growth and survival
Morph: atypical lymph in lamina propria, focal invasion of mucosal epithelium
Assoc: EBV
- antibiotic use

49
Q

Gastrointestinal stromal tumor

A

Most common GI mesenchymal tumor
Age: 60, associated with NF1, on chromo 17
Path: interstitial cells of cajal in muscularis propria
- cKit, gain of function mostly
- rarely PDGF
Morph: Gross- solitary well circumscribed
- cigar like tumor
Micro - epithelioid or spindle cell type
Sx: tx with imitinab, mass effects or blood loss

50
Q

Gastric Carcinoma (2 types) and metastases

A
  1. Intestinal type adenocarcinoma
  2. diffuse carcinoma - linitis plastica

Metastasis to Left supraclavicular lymph node - Virchow node and Krukenberg tumor (bilateral metastases to the ovaries

51
Q

Intestinal type adenocarcinoma

A

Cause: infections, H pylori which leads to chronic gastritis also partial gastrectomy
Diet: smoked foods, nitrites, decreased antioxidants
- associated with FAP
Morph: bulky exophytic tumors composed of glandular structures
Sx: dysphagia, dyspepsia, nausea, weight loss, anorexia, altered bowel habits, anemia, hemorrhage

52
Q

Diffuse carcinoma

A

Path: E cadherin with CDH1
- no H pylori infection and chronic gastritis
Morph: signet ring cells (intracellular mucin vacuoles push nucleus to periphery) no gland forming
- correlates to these tumors is a rigid thickened gastric wall termed linitus plastica
Sx: dysphagia, dyspepsia, nausea, weight loss, anorexia, altered bowel habits, anemia, hemorrhage

53
Q

Gastric adenoma

A

Occur in association with FAP or chronic gastritis with atrophy and intestinal metaplasia
Age: Male > female, increases with age
Morph: solitary and less than 2 cm with dysplasia
- 30% turn into carcinoma

54
Q

Meckel Diverticulum

A

Blind pouch leading off the alimentary tract, lines but all three layers of bowel wall - mucosa, submucosa, muscularis propria
- persistence of vitelline duct
Gender: male>female
rule of 2’s (2% of population, 2:1 males)
- heterotopic gastric mucosa or pancreatic tissue can be present

55
Q

Ischemic bowel disease

A

Damage mucosal infarction to transmural infarction
Causes: atherosclerosis, aortic aneurysm, hypercoagulable states, embolization, vasculitis
- cardiac failure, shock, dehydration, vasoconstrictive drugs
Path: reperfusion and hypoxemia leads to influx of inflammatory cells and mediators
Morph: transmural - coagulative necrosis of muscularis propria
micro - atrophy and sloughing of surface epithelium, preserved crypts
- chronic leads to fibrosis of lamina propria and occasionally stricture
Sx: abdominal pain, bloody diarrhea or melena, abdominal rigidity, nausea, vomiting

56
Q

Angiodysplasia

A

Age: 6th decade
Location: cecum and right colon and ileum
Morph: malformed submucosal and mucosal blood vessels
- ectatic nests veins, venules, and capillaries
Sx: lower GI bleeding
Hereditary hemorrhagic telangiectasia

57
Q

Intestinal obstruction causes

A

Tumors and infarctions are 10-15%

80% attributed to hernias, adhesions, volvulus, intussusception

58
Q

Hernia

A

peritoneal wall defects permit peritoneal sac protrusion where bowel can be trapped
- incarceration, vascular compromise leads to strangulation

59
Q

Adhesions

A

localized peritoneal inflammation following surgery, infection, endometriosis, or radiation

  • healing leads to fibrous bridging between viscera
  • internal herniation, obstruction, strangulation
60
Q

Volvulus

A

Complete twisting of a bowel loop about its mesenteric base

- leads to vascular and luminal obstruction with infarction

61
Q

Intussusception

A

Intestinal segment telescopes into immediately distal segment
- peristalsis propels the invaginated segment, along attached mesentery, potentially results in obstruction, vessel compression, infarction

Infants and children - can be associated with rotaviral infection
Adult - metastasis

62
Q

Acute appendicitis

A

Most common requiring surgery, lifetime 7%
Path: associated with obstruction of lumen by fecalith, tumor, worms with increased intraluminal pressure
- followed by ischemia, exacerbated by edema and exudate and bacterial invasion
Morph: early - neutrophil exudate with subserosal congestion and perivascular neutrophil emigration
advanced - more severe neutrophilic infiltration with fibrinopurulent serosal exudate, luminal abscess formation, ulceration , suppurative necrosis
Sx: nausea, vomiting, RLQ pain

63
Q

Tumors of appendix

A

Carcinoid - most common
mucocele - dilation of appendiceal lumen by mucous secretions
mucinous cystadenocarcinoma - appendiceal wall invasion by neoplastic cells and peritoneal implants

64
Q

Diverticulitis

A

Age: >60
Path: focal bowel wall weakness which allows outpouching when there is increased intraluminal pressure
Morph: Flasklike outpouchings in distal colon
- stool gets caught up in outpouchings
- muscularis not involved, hypertrophic
Sx: cramping, abd discomfort, constipation

65
Q

Secretory diarrhea

A

isotonic with plasma and persists during fasting

66
Q

Osmotic diarrhea

A

unabsorbed luminal solutes increase osmotic pull of fluid; stool can be 50 mOsm or more hyperosmolar relative to plasma; abates with fasting

67
Q

Malabsorption diarrhea

A

defective absorption of fats, vitamins, proteins, carbs, electrolytes, minerals and waters; abates on fasting

Sx: bulky, frothy, greasy, yellow, gray stools, wt loss, anoreaxia, abdominal distention, muscle wasting, flatus

68
Q

Exudative diarrhea

A

due to inflammatory disease; purulent, bloody stools persist during fasting

69
Q

Celiac disease

A

Immune-mediated diarrheal disorder triggered by ingestion of gluten foods
- HLADQ2 and HLADQ8
Path: delayed type hypersensitivity - alpha-gliadin
- terminal digestion with transepithelial transport
Morph: flattened atrophic villi with elongated regenerative crypts associated with intraepithelial CD8 T cells and lamina propria chronic inflammation
- proximal SI
Sx: diarrhea, flatulence, weight loss, anemia
- dermatitis herpetiformis
- T cell lymphoma long term
- GIT and breast CA
Dx: IgA antidbodies to tissue transglutaminase or IgA or IgG to deamidated gliadin

70
Q

Tropical Sprue

A

People visiting tropical climates
- terminal digestion and transepithelial transport
Tx: broad spectrum antibiotics

71
Q

Autoimmune enteropathy

A

X linked disorder of children

  • autoimmune driven diarrhea
  • IPEX due to FOXP3 gene
  • Terminal digestion and transepithelial transport
72
Q

Lactase Deficiency

A

Undigested and unabsorbed lactose exerts an osmotic pull, causes diarrhea and malabsorption
- abdominal distention and flatus

73
Q

Abetalipoproteinemia

A

Inheritance: auto rec

  • inability of lipids to egress absorptive epithelial cells
  • defect is a mutation in microsomal triglyceride transfer protein which is used in lipoprotein and FA export from mucosal cells

Infants: failure to thrive, diarrhea, steatorrhea

Sx: failure to absorb essential fatty acids leads to deficiencies of fat soluble vitamins
- lipid vacuolation and burr cells

  • transepithelial transport
74
Q

Whipple disease

A

Gram positive actinomycete Tropheryma whippelii
-Lymph transport
Morph: grossly - villous expansion in small bowel imparting a shaggy appearance
micro - dense accumulation of foamy macro in small intestine lamina propria
- Positive PAS bacteria within lysosomes
- Laden macro in lymph, lymph nodes, joints, brain
Sx: diarrhea, weight loss, malabsorption, arthritis, fever, LAD, neuro/cardiac/pulmonary disease

75
Q

Irritable bowel syndrome

A

Chronic relapsing abdominal pain, bloating, changes in stool frequency or form
Age: women 20-40
Cause: psychologic stressors, diet, abnormal GI motility

76
Q

Inflammatory bowel disease

A

Inappropriate mucosal immune responses to normal gut flora

  • combination of defects in host interactions with GI flora, intestinal epithelial dysfunction, and aberrant mucosal immunity
  • intraluminal digestion, terminal digestion, transepithelial transport

Ulcerative colitis
Crohn disease

Age: women, adolescent in their twenties

77
Q

Crohn Disease

A

GIFTS - cecum with cobblestoning or creeping fat (Crohn)

Granulomas, ileum, fissures/fistula with sharp edges, transmural, skip lesions/serpentine/serositis

Morph: small intestine (ileum and/or colon)
Grossly - skip lesions, creeping fat, aphthous ulcers, cobblestone appearance
Micro - inflammation and ulceration with intraepithelial neutrophils and crypt abscesses, villus blunting atrophy, transmural infiltrate, noncaseating granulomas
Sx: diarrhea, fever, abd pain
- possible malabsorption and malnutrition, fibrotic strictures or fistulas, polyarthritis, ankylosing spondylitis, erythema nodosum, uveitis, amyloidosis
- increased risk of adenocarcinoma

78
Q

Ulcerative colitis

A

Morph: colon and rectum (starts in rectum)
Grossly - mucosa red, granular, friable with pseudopolyps and easy bleeding
Micro - crypt abscesses, ulceration, mucosal damage, atrophy
Sx: bloody mucoid diarrhea and abd pain
- migratory polyarthritis, sacroiliitis, ankylosing spondylitis, uveitis, cholangitis, primary sclerosing cholangitis
- increased risk of adenocarcinoma

79
Q

Inflammatory polyp

A

non-neoplastic, recurrent injury and healing

  • lamina propria fibromuscular hyperplasia with mixed inflammatory cell infiltrates and mucosal erosion
  • recurrent >50
80
Q

Hamartomatous polyp (4 types)

A
  1. Juvenile polyp
  2. Peutz-Jeghers polyp
  3. Cowden syndrome and Bannayan Ruvalcaba Riley Syndrome
  4. Cronkite Canada Syndrome
81
Q

Hyperplastic polyps

A

Decreased epithelial turnover with delayed sheeding
- non neoplastic
Morph: <5 mm of wellformed mature glands

82
Q

Juvenile polyp

A

Hamartomatous polyp
Age: <5 years
Location: small intestine and colon
Cause: mutations in TGF beta signaling from SMAD4
Morph: large cysts with abundant lamina propria
- colectomy because of increased Ca risk

Juvenile polyposis syndrome is rare autosomal dominant by up to 100 hamartomatous polyps

83
Q

Peutz-Jeghers polyp

A

Inheritance: rare autosomal dominant inheritance
- multiple hamartomas in GI and mucocutaneous hyperpigmentation
Morph: large polyps, pedunculated, lobulated/ arborizing smooth muscle surrounding glands
- macules around mouth, eyes, nostrils, buccal mucosa, palms, genital and perianal regions hyperpigmentation

  • increased risk of CA in colon, pancreas, breast, lung, gonads, uterus
84
Q

Cowden Syndrome and Bannayan Ruvalcaba Riley Syndrome

A

Autosomal dominant hamartomatous polyps
Cause: loss of function in PTEN (chromo 10)

Cowden - GI polyps, macrocephaly, benign skin tumors
- increased risk of breast, thyroid, endometrial cancers

Bannayan - mental deficiency and development delays
- GI polyps, macrocephaly, benign skin tumors

85
Q

Cronkhite Canada Syndrome

A

Rare non-hereditary syndrome
Age: >50 years old
Sx: cachexia, diarrhea, abdominal pain, nail atrophy, hair loss, skin pigmentation changes

86
Q

Neoplastic polyps

A

B9 polyps - large adenomas must be removed
- epithelial dysplasia
Morph: dysplastic changes including hyperplasia, nuclear hyperchromasia, loss of polarity
- sessile serrated adenoma has malignant potential

87
Q

Familial adenomatous polyposis syndrome (FAP)

A

Inheritance: auto dom
Cause: mutations in APC gene
- 100% polyps by age 30 years
- prophylactic colectomy

Gardner syndrome - multiple osteomas, epidermal cysts, fibromatosis, abnormal dentition, increased duodenal and thyroid cancers

Turcot syndrome - medulloblastomas

88
Q

HNPCC

A 
Lynch syndrome
Inheritance: MSH2 and MLH1 auto dom
Cause: mutations in genes encoding proteins responsible for detection, excision, and repair of DNA replication errors
- microsatellite instability
Sx: right sided sessile serrated adenoma
89
Q

Familial polyposis syndrome

A

common patterns of sporadic and familial colorectal neoplasia

90
Q

colon adenocarcinoma

A

Most common GI malignancy
Cause: dietary factors, decreased antioxidants
Path: APC/beta catenin pathway associated with WNT
- microsatellite instability –> defect in DNA mismatch repair
- KRAS and p53 promote growth and prevent apoptosis
- SMAD mutations reduce TGFbeta signaling
- telomerase reactivation prevents cellular senescence
Morph: Grossly -
Right colon - ileum and cecum is exophytic
Left colon - endophytic, apple core/napkin ring
Micro - tall columnar cells, adenomatous neoplastic epi with invasion to submucosa, muscularis propria
- desmoplastic response
Sx: fatigue, weakness, iron deficiency anemia, abd discomfort, bowel obstruction, liver enlargement

91
Q

Hirschsprung

A

Congenital aganglionic megacolon
Cause: arrested migration of neural crest cells
- lack of peristaltic contractions, functional obstruction, progressive dilation, hypertrophy of unaffected proximal colon
Path: loss of function in RET tyrosine kinase
Sx: neonatal failure to pass meconium or abdominal distention with severe megacolon, perforation, sepsis, enterocolitis

Acquired - chagas disease, bowel obstruction, IBD –> loss of ganglia

92
Q

Hemorrhoids

A

White line of hilton

  • above are considered internal and painless
  • below are external and painful

Variceal dilation sof anal and perianal submucosal venous plexi
Associations: constipation, venous stasis during pregnancy, cirrhosis

93
Q

Inflammatory disease - peritoneal cavity

A

peritonitis caused by infection or chemical irritation

  • leakage of bile or pancreatic enzymes (sterile peritonitis)
  • acute hemorrhage pancreatitis - bowel wall damage can lead to secondary bactereal peritonitis
  • endometriosis or ruptured dermoid cysts
94
Q

Peritoneal infection

A

GI bacteria released into abdominal cavity after bowel perforation; acute salpingitis, abdominal trauma, peritoneal dialysis
- spontaneous develops without obvious source in the setting of ascites
Morph: peritoneal membranes dull and gray with exudation and suppuration

95
Q

Sclerosing retroperitonitis

A

Ormond disease characterized by dense fibrosis of retroperitoneal tissues

96
Q

Malignant neoplasms

A

Primary: mesothelioma and desmoplastic small round cell tumor - t(11;22) associated with ewing sarcoma and wilms tumor
Secondary: Ovarian, pancreatic, appendiceal adenocarcinomas

Pathology (12 decks)

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