3. Pathology of the small bowels. Idiopathic inflammatory bowel disease.

Diverticulosis of
the large bowels. Tumors of the bowels
Diseases of intestines – continued

Structure of intestinal mucosa

• Small bowel: villi and glands (crypts of Lieberkühn), the luminal surface is covered by mucus
Large bowel: no villi, a thicker mucus layer
• Glands: stem cells at the base give rise to epithelial cells consisting of enterocytes (microvilli for absorbing nutrients
and electrolytes), goblet cells (produce mucus), and Paneth cells (anti-microbial peptides; only in the small bowel).
Endocrine cells control gastrointestinal enzyme secretion, gut motility, and appetite.
• Cells in the lamina propria: dendritic cells, B cells and T cells, IgA-producing plasma cells, macrophages, mast cells,
and eosinophils (innate and adaptive immune responses)

FUNCTIONS OF INTESTINES
• Selective permeability of needed nutrients and electrolytes from the intestinal lumen into the bowel tissues and then
the circulation
• Barrier function: prevention of penetration of harmful microorganisms, luminal antigens and proinflammatory factors

Barrier function: three lines of defense against microbial invasion

• Biological: the gut microbiota (compete with pathogens for nutrients and inhibit the growth of pathogens)
• Mechanical: the single layer of epithelial cells that separates the luminal contents from the gut tissue; impermeable
tight junctions connect adjacent epithelial cells; so materials must enter the cells by diffusion or active transport to
pass through the barrier
• Immune: enriched IgA molecules in mucus; intraepithelial cytotoxic T-lymphocytes which rapidly kill pathogenic
microbial and dietary antigens and tolerate nonpathogenic antigens, and gut-associated lymphoid tissue (GALT) in
lamina propria

Intestinal barrier failure

• In patients subjected to major abdominal operations; in critically ill, often septic patients; in stable patients with chronic
pathologic conditions, such as chronic liver diseases, IBD, celiacal disease, irritable bowel syndrome
• Translocation of gut-derived pathogens or their pathogen-associated molecular patterns (PAMPs) through a
dysfunctional mucosal barrier to the mesenteric lymph nodes, the portal vein and the systemic circulation
• Promotion of SIRS/sepsis

DIARRHEA
An increased frequency and/or increased volume of stool (>200 g/day)
Important types
 Secretory: intestinal cells secrete more water than they can absorb due to infection, vasoactive intestinal peptides,
etc.
 Exudative: mucosal epithelial damage by infectious agents, idiopathic inflammatory bowel disease, etc.
 Malabsorption-induced

INFECTIOUS DISORDERS OF THE BOWELS

• High incidence; frequent cause of death in the developing countries
• Transmission: fecal-oral, by contaminated food and water
• Dg.: by stool culture

Acute viral enteritis

• Rotavirus or adenovirus: mainly in infants and children; calicivirus: in all age groups
• Cytopathic damage to the small bowel epithelium  secretory diarrhea
• Features: sudden onset of nausea, vomiting and profuse watery diarrhea  fluid and electrolyte loss

Acute bacterial colitis

Pathomechanism
 Infection by secretory enterotoxin-producing E. coli (ETEC)  traveller’s diarrhea
 Infection by enteroinvasive organisms (Campylobacter, Salmonella, E. coli, Shigella, Yersinia, etc.) that proliferate,
invade, and destroy mucosal epithelial cells; the Shigellae, the enterohemorrhagic E. coli (EHEC) organisms produce
enterotoxin, too.

Features of enteroinvasive infections

• Nonspecific morphology: the lamina propria is edematous, hyperemic and displays neutrophilic cryptitis, crypt abscess
(crypts with accumulations of luminal neutrophils) + ulcers
• Lead to dysentery: exudative, small-volume diarrhea characterized by abdominal cramping and tenesmus in which
loose stools contain blood, pus, mucus and necrotic tissue debris

Clostridioides (formerly Clostridium) difficile infection

Pathogenesis
• Important nosocomial pathogen
• Broad-spectrum antibiotic therapy eradicates the normal bacterial flora of the gut
• Toxin-producing C. difficile bacteria start to multiply and colonize in the crypts; the toxins (A and B) cause mucosal
injury and inflammation
Morphology
• Pseudomembranous inflammation, most commonly in the rectosigmoid area
• Plaques of yellow fibrin and inflammatory debris adherent to a reddened mucosa
• in fulminant cases, the entire colon becomes involved and displays marked dilation, termed toxic megacolon
Clinical features
• Abdominal pain, odorous diarrhea that may be bloody; leukocytosis; fever, malaise
3. Pathology of the small bowels. Idiopathic inflammatory bowel disease. Diverticulosis of
the large bowels. Tumors of the bowels
• Toxic megacolon is associated with systemic toxin effects, septic shock, and paralytic ileus + perforation; fatal
outcome is frequent
• Dg: presence of diarrhea + rapid stool test for free toxins A/B or detection of toxigenic C. difficile in stool
Therapy: oral vancomycin + fecal microbiota transplantation

MICROSCOPIC COLITIS
• Typically in middle-aged women; presents with chronic watery diarrhea and abdominal pain; stool cultures: negative
• Colonoscopic findings: grossly normal
• LM: collagen colitis: band-like collagen under the surface epithelium; lymphocytic colitis: prominent intraepithelial
infiltrate of lymphocytes
• Lmphocytic colitis can associate with celiac disease

NECROTIZING ENTEROCOLITIS (NEC)

• In low-birth-weight or premature neonates after oral feeding is instituted
Pathogenesis
• Obscure; predisposing factor: early gut microbiome dysbiosis
Pathology
• Involves the terminal ileum, cecum, and ascending colon
• Mucosal edema, hemorrhage, and necrosis + submucosal gas bubbles (pneumatosis intestinalis)
Clinical features
• Bloody stool, abdominal distention, shock
• High mortality rate
• Strictures in survivors

MALABSORPTION
• Suboptimal absorption of fats, fat-soluble vitamins, proteins, carbohydrates, minerals, and water
• Clinical features: chronic diarrhea with fecal excretion of fat (steatorrhea), malnutrition, weight loss, iron deficiency
anemia
• Causes:  production of pancreatic enzymes due to chronic pancreatitis or cystic fibrosis
lactase deficiency
celiac disease
Whipple disease

LACTOSE INTOLERANCE
• Deficiency of lactase in the brush border of the small bowel epithelial cells  inability to hydrolyze lactose (main
carbohydrate in milk) into glucose and galactose  milk intolerance (mother milk, cow milk)  diarrhea
• Congenital ~: in infants
• Acquired ~: any disease that damages the small intestinal mucosa, such as viral enteritis, celiac disease

CELIAC DISEASE (SPRUE, GLUTEN-SENSITIVE ENTEROPATHY)

Pathogenesis
• Autoimmune disease; affects primarily the small intestines; autoantigen: tissue transglutaminase (TG) in the lamina
propria
• In individuals with HLA-DQ2 or HLA-DQ8 haplotype, the interaction between gliadin component of gluten-containing
grains (wheat, rye, oat, and barley) and TG leads to
• chronic enteritis with the loss of mucosal and brush border surface area  malabsorption
Light microscopy
•  of intraepithelial CD8+ T-cells;  of CD4+ T-cells and plasma cells in the lamina propria
• Atrophy of villi with loss of brush border
• Elongated regenerative crypts (crypt hyperplasia)
Clinical features
• In infants exposed to solid food  diarrhea, flatulence, failure to thrive, weight loss
• May manifest in middle-aged adults: chronic diarrhea, bloating, chronic fatigue, and consequences of malabsorption:
iron-deficiency anemia, osteopenia, itchy blistering skin rash (dermatitis herpetiformis), etc.
• The dg rests on positivity for IgA TG antibodies in the serum and biopsy-proven atrophy of small bowel mucosa;
gluten withdrawal from the diet improves both symptoms and mucosal histology
Important
• Long-term risk for the development of enteropathy-associated T-cell lymphoma or adenocarcinoma of small bowels

POSTINFECTIOUS, TROPICAL SPRUE

• In people living or visiting the tropics
• Within days or a few weeks of an acute diarrheal enteric infection  syndrome of malabsorption
• The small intestinal morphology is similar to that seen in GSE
• Broad-spectrum antibiotics correct the malabsorption
• No risk of intestinal lymphoma

WHIPPLE DISEASE
• Mainly in men, caused by the bacterium Tropheryma whippelii
• Small intestinal mucosa is laden with large macrophages, distorting the villi; these cells are stuffed with PAS-positive
bacteria within lysosomes
• PAS-positive macrophages can also be found in the synovial membranes of joints, the brain, and cardiac valves
• Clinical features: malabsorption, polyarthritis + psychiatric complaints or cardiac abnormalities
• Response to antibiotic therapy is prompt
3. Pathology of the small bowels. Idiopathic inflammatory bowel disease. Diverticulosis of
the large bowels. Tumors of the bowels
IDIOPATHIC INFLAMMATORY BOWEL DISEASE (IBD)
• Includes ulcerative colitis (UC) and Crohn’s disease (CD); both are chronic, relapsing inflammatory disorders
• UC and CD share many features but also differ from another so in typical cases each can be diagnosed
• In 20% of cases, the disease cannot be classified as UC or CD: indeterminate colitis
• Peak incidence: young adults

Pathogenesis
Not known precisely
• In genetically susceptibe individuals, environmental factors, dysbiotic gut microbiome and the host immune system
lead to aberrant immune responses and chronic intestinal inflammation
• Normal events in lamina propria: Tregs, Bregs and innate lymphoid cell-1s (ILC1s) via the production of anti-
inflammatory cytokines suppress Th17 and ILC3 cells, producers of proinflammatoy cytokines (e.g., IL17, TNF-alpha).
• This suppression is not efficient in IBD  inflammatory damage to the crypts and invasion of the gut microbiota occur
 uncontrolled release of cytokines unregulated and exaggerated inflammatory responses

Ulcerative colitis
• Affects the mucosa + submucosa of the rectum (proctitis) or rectosigmoid colon (distal colitis)
• 10%: the entire colon is affected (pancolitis)
• Extends in a continuous fashion proximally from the rectum
• Exacerbations are often triggered by emotional or physical stress
Gross features
• Broad-based ulcers irregular in outline and orientation, ranging up to many cm-s
• The ulcers are separated by narrow strands of edematous hyperemic mucosa bulging upwards, called pseudopolyps
LM
• Intense infiltration of the mucosa by granulocytes, ly-s and plasma cells
• Cryptitis  crypt abscesses
• Necrosis of epithelium; enlargement of necrotic areas produce the grossly visible ulcers
Healing
Granulation tissue fills the ulcer craters, followed by regeneration of the mucosal epithelium

Clinical features, acute phase

• Bleeding from ulcers
• Severe bloody diarrhea; intense pain at defecation
• Fever
• In severe cases: toxic megacolon; ulcers may perforate
Chronic phase
• Progressive mucosal atrophy
• Epithelial dysplasia
• Development of colon cc - in relapsing disease lasting for 25 years, the risk is 10%

Crohn’s disease
Involvement
• small intestine 40% (terminal ileitis)
• large intestine 30%
• small and large intestine 30%
Gross features
• Segmental involvement, sharply demarcated from adjacent normal bowel („skip lesion”)
• Deep ulcers in the long axis of the bowel (serpentine fissures) separated by nodular mucosal thickenings 
cobblestone appearance
• Subsequent fibrosis of the wall  stricture of the involved segments, particularly of the terminal ileum
• Extension of fissures leads to fistula formation to other loops of bowel, the urinary bladder, vagina or perianal skin
+ peritoneal abscess(es)
LM
• Fissure ulcers, extending into the tunica muscularis
• Transmural aggregates of lymphocytes and fibrosis
• Noncaseating granulomas in 35% of cases

Clinical features
Onset
• In most patients: intermittent attacks of relatively mild diarrhea, abdominal pain, and fever
• In minority of patients: appendicitis-like symptoms + bloody diarrhea
Years later
• Small bowel manifestation - malabsorption, hypoalbuminemia (protein-loosing enteropathy)
• Colonic manifestation - iron deficiency anemia
• Fibrosing strictures require surgical resection

Therapy of IBD
• See clinical lecture
• Anti-inflammatory drugs (e.g., 5-aminosalicylates; 5-ASAs), immunosuppressive agents (azathioprine, cyclosporine,
etc.), biological agents (e.g., anti-TNF agents); treatment of dysbacteriosis

DISEASES OF THE INTESTINES

3. Pathology of the small bowels. Idiopathic inflammatory bowel disease. Diverticulosis of
the large bowels. Tumors of the bowels
DIVERTICULOSIS
• Small saclike outpouchings of the colon (5 to 10 mm in diameter)
• Usually limited to the sigmoid colon
• Frequent in Western countries in people above 60 ys
Pathomechanism
 Low fiber diet  reduced bulk of stool  forced peristaltic contractions with
abnormal elevations of intraluminal pressure to push stool towards the anal
canal
 Focal weakness of colonic wall beside the taeniae and the penetrating vessels
allows mucosal outpouching when the intraluminal pressure is markedly
increased
Morphology
• Hypertrophied tunica muscularis + diverticula
• Ulceration of the herniated mucosa by fecoliths 
• Purulent diverticulitis and peridiverticulitis
Complications
• Perforation  pericolonic abscess or peritonitis
• Relapses of diverticulitis  mural fibrosis  stenosis of sigmoid bowel
Clinical features
• Left-sided lower-quadrant pain, bloody stool, fever, leukocytosis

TUMORS OF THE BOWELS

POLYPS
Tumor-like or tumorous protrusions of the intestinal mucosa

Non-neoplastic
• Inflammatory (pseudopolyps): in ischemic colitis, ulcerative colitis
• Hamartomatous
Neoplastic polyps risk of malignant transformation
• Conventional adenomas
• Serrated lesions and polyps

HAMARTOMATOUS POLYPS
Hamartoma: tumor-like lesion, focal overgrowth of mature cells and tissues

Juvenile polyp
• In the rectum of children (< 5 ys of age)
• Single, pedunculated, diameter: 1- 3 cm
• LM: mucus-filled cystic glands and edematous, inflammed stroma
• Causes rectal bleeding

Peutz-Jeghers polyps
• Autosomal-dominant inheritance
• Multiple gastrointestinal polyps, most numerous in the small intestine; risk of
intussusception
• Melanotic macules on the lips, buccal mucosa, palms
• Risk of cancer in the lungs, breast, pancreas, etc.

NEOPLASTIC POLYPS
3. Pathology of the small bowels. Idiopathic inflammatory bowel disease. Diverticulosis of
the large bowels. Tumors of the bowels

Conventional adenomas
• Premalignant sporadic or hereditary neoplasms, composed of dysplastic
epithelium
• Structure: tubular, tubulovillus, villous
• Low-grade vs. high-grade dysplasia; absence of invasion

Tubular adenomas
• About half are found in the rectosigmoid; may be single or multiple
• Usually <10 mm and pedunculated
• >10 mm: areas of intramucosal carcinoma can be present (invasion of the
lamina propria with no extension through the muscularis mucosae into the
submucosa)

Villous adenomas
• Most often in the rectum; solitary, sessile, diameter: up to 10 cm
• Composed of villi (finger-like protrusions lined with dysplastic columnar
epithelium)
• Adenocarcinoma frequently arises in VA-s > 4 cm

Clinical features
• Common after age 60, the incidence  with age
• Most are silent; can cause occult/fresh bleeding; large villous adenomas can
hypersecrete protein and K+ into the stool  hypoproteinemia and
hypokalemia
• Most of the tumors can be treated with polypectomy
• Patients with“advanced adenomas” receive more stringent survaillance
• >3 adenoma
• Any adenoma >1 cm with villous architecture
• Any adenoma with high grade dysplasia or intramucosal
adenocarcinoma

Serrated lesions and polyps

A serrate (sawtooth) architecture of the epithelium
• Hyperplastic polyps: discrete (< 5 mm) mucosal elevations in the distal colon
and rectum; no dysplasia
• Sessile serrated lesions; flat or polypoid; may show dysplasia
• Traditional serrated adenomas: 5-15 mm sized polyps, often in the
rectosigmoid colon; may show dysplasia

FAMILIAL CANCER SYNDROMES

Familial adenomatous polyposis
• Autosomal dominant; biallelic loss of the tumor suppressor APC
(Adenomatous Polyposis Coli) gene
• In adolescence >100 colonic adenomatous polyps; by age 30 ys 500-2500
polyps  malignant transformation
• Therapy: total colectomy

Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC])

3. Pathology of the small bowels. Idiopathic inflammatory bowel disease. Diverticulosis of
the large bowels. Tumors of the bowels
• Autosomal dominant; biallelic mutation in the DNA mismatch repair genes
(MSH, MLH, etc.)  microsatellite instability
• Carcinoma of right-sided colon at age 45 ys; often multiple
• Affected individuals have high risk of endometrial and ovarian carcinomas

COLORECTAL CARCINOMA

General features
• One of the most common carcinomas in individuals who are exposed to
lifestyle risk factors and have acquired or inherited genetic changes
• 95% sporadic; peak incidence: 60 to 70 ys
• 5% hereditary: familial adenomatous polyposis (FAP), Lynch sy
• Right-sided cancers (include two-thirds of the transverse colon) have
overall worse prognosis than left-sided cancers

Pathogenesis
 Risk factors: obesity, physical inactivity and Western diet (low intake of
unabsorbable vegetable fiber, high intake of refined carbohydrates and red
meat)
 Three genetic pathways:
- Adenoma-carcinoma pathway - most frequent
- Serrated neoplasia pathway
- Microsatellite instability pathway - less frequent

Adenoma-carcinoma (chromosomal instability) pathway

• Normal colon (inherited or acquired mutation of APC gene on one allele) 
loss of the intact copy of APC gene  -catenin accumulates and translocates
to the nucleus:  cell adhesion and  proliferation 
 Tubular or villous adenoma: mutation of k-ras oncoprotein, homozygous loss
of SMAD4, p53 tumor suppressor genes, activation of telomerase, additional
mutations, gross chromosomal alterations 
 Invasive carcinoma (aneuploid)
Gross
• Distal colon: circumferential, napkin-ring lesions; ulcerated luminal surface 
obstruction, the proximal bowel is distended
• Proximal colon: exophytic, fungating lesions protruding into the lumen, or
crater-like ulcerations with raised margins; obstruction is uncommon
LM
• Adenocarcinomas, many of which produce mucin
• If mucin appears in the stroma of the tumor: mucinous adenocarcinoma -
associated with poor prognosis

Serrated neoplasia pathway

• Hyperplastic polyps  serrated lesions  invasive carcinoma
• Initiated by BRAF mutations, followed by inactivation of several tumor
suppressing genes or mismatch repair genes via DNA methylation [CIMP –
CpG island methylator phenotype])

Microsatellite instability pathway (mismatch repair deficiency)

3. Pathology of the small bowels. Idiopathic inflammatory bowel disease. Diverticulosis of
the large bowels. Tumors of the bowels
• Microsatellites are fragments of repeat sequences which misalign during DNA
replication, corrected by the DNA mismatch repair genes
• The epigenetic silencing of MLH1 expression through promoter
hypermethylation or somatic biallelic inactivation of MLH1, MSH2, MSH6, and
PMS2 genes occurs in approx.10% of sporadic cancers.
• In Lynch sy, germline mutations in these genes lead to cancer.
Morphology
• Localize to the proximal colon; frequent in females
• LM: high grade mucinous adenocarcinomas
• The neostroma is infiltrated by lymphocytes

Spread of colorectal carcinomas

• The cancers eventually penetrate the wall, infiltrate the subserosa, and then
the peritoneum
• Transcelomic spread: carcinosis of peritoneum
• Metastases
- lymphatic: colonic cc-s  mesocolonic lymph nodes; rectal cc-s 
mesorectal lymph nodes
- hematogeneous: liver; distal rectal carcinomas  lungs
-
Clinical features
• Asymptomatic for years
• Distal colon carcinomas: can produce changes in bowel habit, occult bleeding
 iron deficiency anemia  weakness; on occasion, intestinal obstruction or
hematochezia
• Proximal colon carcinomas: occult bleeding  iron deficiency anemia 
weakness
• Dg: colonoscopy and biopsy confirmation

Prognosis
• Depends on the extent of tumor
• At the time of the dg, the majority of carcinomas infiltrated the subserosa and
produced metastases in the regional lymph nodes; before surgical resection,
chemoradiotherapy is used to downsize locally advanced tumors
• If liver metastases are present at the time of the dg, the survival is dismal

CAUSES OF INTESTINAL BLEEDING (HEMATOCHEZIA)

• Gastrointestinal bleeding manifests in either melena (black stools) or
hematochezia (passage of bright blood per rectum).
• Melena comes from the upper GI tract, hematochezia comes from the colon.
• Causes of hematochezia:
- Polyps
- Carcinoma
- Diverticulitis
- Angiodysplasia
- Colitis
- Hemorrhoids

NEUROENDOCRINE TUMORS
• Derive from neuroendocrine cells of the gastrointestinal mucosa; grow slowly
3. Pathology of the small bowels. Idiopathic inflammatory bowel disease. Diverticulosis of
the large bowels. Tumors of the bowels
• Peak incidence: in the 6th decade
Morphology
• Small intramucosal or submucosal nodules (less than 2 cm)
• LM: tumor cells are cuboidal or polygonal in shape, are arranged in cords or
clumps, and contain neuroendocrine granules
Clinical features
• Biologic behaviour: those in the appendix or rectum: semimalignant; larger
tumors (> 2 cm) in the ileum, colon and stomach metastasize
• Hormone production: gastrin synthesis  multiple peptic ulcers in the stomach
and duodenum; ileal tumors produce serotonin  carcinoid sy: intestinal
hypermotility with diarrhea and cramps, facial flushing, bronchospasm,
stenosis of the valves of pulmonary artery

GASTROINTESTINAL LYMPHOMA
• No evidence of liver, spleen, mediastinal lymph node, or bone marrow
involvement at the time of the dg
• Conditions predisposing to primary GI lymphoma: H. pylori-gastritis, celiac
disease, AIDS
• 3 types: marginal zone lymphoma, diffuse large B cell lymphoma, and celiac
disease-associated T cell lymphoma (highly malignant)

GASTROINTESTINAL STROMAL TUMOR (GIST)

• Sarcoma; derives from the interstitial cells of Cajal (pacemaker cells for gut
peristalsis) in the muscularis propria
• Peak: in the sixth decade
Morphology
• LM: spindle or epitheloid cells.
• Immunohistochemistry: c-KIT (CD 117) positivity because of a mutation in the
c-KIT gene which encodes a tyrosine kinase receptor; tumors may show
smooth muscle cell differentiation and/or neural differentiation
Clinical features
• Asymptomatic for long period; larger tumors may cause mucosal ulceration
with bleeding, or intestinal obstruction
• Metastases: liver, peritoneum
• Targeted therapy: with tyrosine kinase inhibitor

PATHOLOGY OF APPENDIX
Acute appendicitis
• Acute bacterial infection of the appendix, usually precipitated by the
obstruction of the lumen by fecalith, enlarged mucosal lymphoid follicles,
worms, etc.
• Frequent condition affecting mainly older children and young adults
Morphology of inflammation
Purulent
• 6th hour - acute early ~: focal erosions in the mucosa, filled and covered with
fibrin and ng-s
• 24th hour - acute ulcerophlegmonous ~: multiple ulcers, intense transmural
infiltration of ng-s, fibrinopurulent exudate on the serosa (this is the stage
when surgical removal is usually performed)
3. Pathology of the small bowels. Idiopathic inflammatory bowel disease. Diverticulosis of
the large bowels. Tumors of the bowels
• 48th hour - acute suppurative ~ : grossly visible abscesses in the wall of
appendix + perforation
Gangrenous
• Rapid course
• Perforation is frequent
Complications
• Focal  diffuse acute fibrinopurulent peritonitis
• Periappendicular abscess
Clinical features
• Presents itself as acute abdomen
• Disorders mimicking acute appendicitis
• Mesenteric lymphadenitis following a systemic viral infection or Yersinia
infection
• Acute salpingitis, rupture of an ovarian follicle at the time of ovulation,
ectopic pregnancy
• Crohn’s disease of the appendix
• Ureterolithiasis
• Tumors of the appendix
• Pin-worm infection

Mucocele of appendix
• Clinical term for macroscopic description of a dilated appendix filled with mucin
• Obstructive ~: fecalith plugs the orifice of the appendix
• Neoplastic ~: results from a mucinous neoplasm of the appendix

Appendiceal mucinous neoplasm (LAMN, HAMN)

• In adults in the sixth decade
Pathogenesis
• KRAS mutations
Morphology
• Replacement of normal mucosa by a villous tumor with slender villi lined by
bland hypermucinous epithelium with low-grade atypia (low-grade appendiceal
mucinous neoplasm; LAMN) and a broad pushing margin
• Infrequently, cytologically high-grade appendiceal mucinous neoplasm
(HAMN) is observed
Clinical features
• Presents with features of appendicitis; with or without appendiceal perforation
• The mucin can cause rupture of the appendix; the tumorous dissemination in
the peritoneal cavity is termed as pseudomyxoma peritonei

Neuroendocrine tumor of the appendix

• Often discovered incidentally in appendices removed for appendicitis
• Usually in the distal tip
• Semimalignant - invades through the wall, but does not metastasize

CONGENITAL MALFORMATIONS OF THE GI TRACT

• Cleft lip and cleft palate
• Atresia of esophagus
• Diaphragmatic hernia
• Congenital pyloric stenosis
3. Pathology of the small bowels. Idiopathic inflammatory bowel disease. Diverticulosis of
the large bowels. Tumors of the bowels
• Atresia of duodenum (usually lethal)
• Meckel’s diverticulum
• Congenital megacolon
• Imperforate anus

CONGENITAL PYLORIC STENOSIS

• Hypertrophy of the pylorus smooth muscle wall; may be palpated through the
abdominal wall
• Male infants predominate
• Nonbilious projectile vomiting from the 2nd week of life; lethal without surgery
(pyloromyotomy)

MECKEL’S DIVERTICULUM
• Persistence of the vitelline duct (connects yolk sac with the gut lumen); site: in
the terminal ileum, about 30-50 cm from the cecum
• Consists of the usual layers of the gut wall; may contain heterotopic gastric
mucosa (acid and peptic secretion) or pancreatic tissue
• Usually asymptomatic; may cause invagination or peptic ulceration (+
perforation)

CONGENITAL AGANGLIONIC MEGACOLON (HIRSCHSPRUNG’S DISEASE)

 Absence of ganglia in the rectum + sigmoid colon  peristalsis is prevented in
the rectum resulting in a functional obstruction
 Males predominate
Morphology
 The rectum lacks both Meissner’submucosal and Auerbach’ myenteric
plexuses
 Extreme dilation of the normally innervated colon proximally to the aganglionic
segment (megacolon)
 The dilated bowel segment is filled with stool
Features
 Chronic constipation and gradual bloating of the abdomen in infancy; danger
of enterocolitis, perforation
• Contrast enema is used to establish the diagnosis; full-thickness biopsy of the
rectum reveals an absence of ganglion cells
• Th.: resection of the aganglionic segment

IMPERFORATE ANUS
• Failure of the cloacal diaphragm to rupture
• Surgery is usually curative