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
Reflux esophagitis
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
26
pyloric stenosis
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
27
Barrett esophagus
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:
28
Adenocarcinoma - esophageal
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
29
Squamous cell carcinoma - esophagus
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
30
Cardia of stomach - histology
foveolar cells --> mucin secreting
31
fundus of stomach - histology
parietal cells --> acid secretion (HCl - H+)
32
body of stomach - histology
chief cells --> pepsin (digestive enzyme)
33
antrum of stomach - histology
gcell --> gastrin (stimulates cardia: luminal secretion of acid)
34
pyloric stenosis
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
35
Ectopia (3 places)
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
36
Hiatal hernia (2 types)
1. sliding type: relaxation or adipose pushing stomach through the ring 2. rolling type: paraesophageal is worse, venous occlusion and strangulation
37
Acute gastritis
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
38
Acute gastric ulceration
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
39
Chronic gastritis (3 types)
H. pylori, autoimmune, uncommon forms
40
H. pylori gastritis
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
Carcinoid tumor
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
Uncommon forms of gastritis (4 types)
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
Menetrier Disease
``` 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
Zollinger-Ellison Syndrome
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
Inflammatory and hyperplastic polyps
Age: 50-60, associated with chronic gastritis | - can be multiple but are innocuous
46
Fundic gland polyps
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
Adenomatous polyp
Occur with FAP or chronic gastritis with atrophy and intestinal metaplasia, males > females - usually solitary, less than 2 cm - associated with adenocarcinoma
48
Lymphoma (MALT)
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
Gastrointestinal stromal tumor
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
Gastric Carcinoma (2 types) and metastases
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
Intestinal type adenocarcinoma
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
Diffuse carcinoma
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
Gastric adenoma
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
Meckel Diverticulum
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
Ischemic bowel disease
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
Angiodysplasia
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
Intestinal obstruction causes
Tumors and infarctions are 10-15% 80% attributed to hernias, adhesions, volvulus, intussusception
58
Hernia
peritoneal wall defects permit peritoneal sac protrusion where bowel can be trapped - incarceration, vascular compromise leads to strangulation
59
Adhesions
localized peritoneal inflammation following surgery, infection, endometriosis, or radiation - healing leads to fibrous bridging between viscera - internal herniation, obstruction, strangulation
60
Volvulus
Complete twisting of a bowel loop about its mesenteric base | - leads to vascular and luminal obstruction with infarction
61
Intussusception
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
Acute appendicitis
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
Tumors of appendix
Carcinoid - most common mucocele - dilation of appendiceal lumen by mucous secretions mucinous cystadenocarcinoma - appendiceal wall invasion by neoplastic cells and peritoneal implants
64
Diverticulitis
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
Secretory diarrhea
isotonic with plasma and persists during fasting
66
Osmotic diarrhea
unabsorbed luminal solutes increase osmotic pull of fluid; stool can be 50 mOsm or more hyperosmolar relative to plasma; abates with fasting
67
Malabsorption diarrhea
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
Exudative diarrhea
due to inflammatory disease; purulent, bloody stools persist during fasting
69
Celiac disease
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
Tropical Sprue
People visiting tropical climates - terminal digestion and transepithelial transport Tx: broad spectrum antibiotics
71
Autoimmune enteropathy
X linked disorder of children - autoimmune driven diarrhea - IPEX due to FOXP3 gene - Terminal digestion and transepithelial transport
72
Lactase Deficiency
Undigested and unabsorbed lactose exerts an osmotic pull, causes diarrhea and malabsorption - abdominal distention and flatus
73
Abetalipoproteinemia
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
Whipple disease
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
Irritable bowel syndrome
Chronic relapsing abdominal pain, bloating, changes in stool frequency or form Age: women 20-40 Cause: psychologic stressors, diet, abnormal GI motility
76
Inflammatory bowel disease
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
Crohn Disease
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
Ulcerative colitis
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
Inflammatory polyp
non-neoplastic, recurrent injury and healing - lamina propria fibromuscular hyperplasia with mixed inflammatory cell infiltrates and mucosal erosion - recurrent >50
80
Hamartomatous polyp (4 types)
1. Juvenile polyp 2. Peutz-Jeghers polyp 3. Cowden syndrome and Bannayan Ruvalcaba Riley Syndrome 4. Cronkite Canada Syndrome
81
Hyperplastic polyps
Decreased epithelial turnover with delayed sheeding - non neoplastic Morph: <5 mm of wellformed mature glands
82
Juvenile polyp
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
Peutz-Jeghers polyp
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
Cowden Syndrome and Bannayan Ruvalcaba Riley Syndrome
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
Cronkhite Canada Syndrome
Rare non-hereditary syndrome Age: >50 years old Sx: cachexia, diarrhea, abdominal pain, nail atrophy, hair loss, skin pigmentation changes
86
Neoplastic polyps
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
Familial adenomatous polyposis syndrome (FAP)
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
HNPCC
``` 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
Familial polyposis syndrome
common patterns of sporadic and familial colorectal neoplasia
90
colon adenocarcinoma
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
Hirschsprung
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
Hemorrhoids
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
Inflammatory disease - peritoneal cavity
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
Peritoneal infection
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
Sclerosing retroperitonitis
Ormond disease characterized by dense fibrosis of retroperitoneal tissues
96
Malignant neoplasms
Primary: mesothelioma and desmoplastic small round cell tumor - t(11;22) associated with ewing sarcoma and wilms tumor Secondary: Ovarian, pancreatic, appendiceal adenocarcinomas