3.06, 4.07, 4.09, 4.18 Exam 2 Pathology Flashcards
> 2cm mass in colonic mucosa that is sessile (no stalk) and villous histology
neoplastic adenoma polyp (malignant potential)
protrusion of colonic mucosa with serrated appearance upper 1/3 crypt on microscopy, <5mm, left sigmoid colon + rectum, more frequent seen in multiples
HP: non-neoplastic hyperplastic polyps
Sessile large, right sided colon polyps with dilation, branching, and serration extending to the base with characteristic T and L shapes
SSA/P: sessile serrated adenoma/polyp
chronic intermittent rectal bleeding, mucus discharge, inflammatory polyps on anterior rectal wall that shows well demarcated ulcer with congestion, hemorrhage, and mucoid exudates on colonoscopy
SRUS single rectal ulcer syndrome
90% of all polyps in children <5 yo, solitary, hamartomatous, no increased cancer risk
sporadic juvenile polyp
child with rectal bleeding, anemia, diarrhea, intussusception, intestinal obstruction, or polyp prolapse that on coloscopy shows but there are multiple polyps or multilobulated (at least 5) in stomach and colon or (+) FH, almost always syndromic with cardiac, vascular, skeletal, cranial deformities and malrotations/diverticulum’s
JPS: juvenile polyposis syndrome
increased risk of colorectal carcinoma
20% of JPS patients have germline mutations in what gene and shows up with what stain?
SMAD4 gene + immunostain
11 yo with mucocutaneous hyperpigmentation, hematochezia, hematemesis, abdominal pain, hamartomatous polyps, arborization and presence of smooth muscle mixed into lamina propria, and increased cancer risk
Peutz-Jeghers Syndrome
What inheritance pattern and mutation in 70-80% Peutz-Jegher’s Syndrome?
AD, LKB1/STK11
what is the inheritance pattern and mutation for familial adenomatous polyposis?
AD, APC gene
25-year-old colonoscopy shows over 100 polyps, family members that died of colorectal cancer, and carry APC mutation, next step?
FAP - prophylactic colectomy
most common neoplastic polyp and why all adults in the US recommended colonoscopy after 45 yo?
colonic adenoma
Does a single cancerous colonic polyp increase the risk of cancer in another polyp?
nope
What colonic adenoma architecture is most likely to harbor cancers?
villous adenomas (larger sessile) > tubular
An older adult with what is assumed to have colorectal cancer until proven otherwise?
iron deficiency anemia
65 yo comes in with asymptomatic chronic bleeding, iron deficiency anemia, positive fecal occult blood test, colonoscopy shows a “raised lesion” in the ascending colon, while biopsy reveals infiltrative malignant glands, and desmoplasia (submucosal invasion)?
colon adenocarcinoma “right sided”
What is the most common variant of colorectal carcinoma?
intestinal type adenocarcinoma 90%
If 75 yo come after years of asymptomatic chronic bleeding, iron deficiency anemia, positive fecal occult blood test now experience endocarditis (streptococcus bovis positive), ascites, SBO, bladder symptoms, abdominal guarding, and sciatic nerve pain? What may be elevated on serum testing?
metastasis of colorectal adenocarcinoma (+ enterocutanous fistulas)
bad prognosis = risk of death
CEA serum elevated
Biopsy of intestines reveals MICRO transmural inflammation, lymphoid aggregates with granulomas, neutrophils in the epithelium, basal lymphoplasmacytosis
GROSS skip lesions, predisposition for strictures, fistulas, and cobblestone mucosa?
crohn’s
What form of IBD is most associated with an increased risk of neoplasia?
Ulcerative colitis
Biopsy of intestines reveals MICRO normal serosal surface, lymphoplasmacytic inflammation of the lamina propria, basal plasmacytosis, crypt abscesses, inflammation restricted to the mucosa, and intact muscularis
GROSS no strictures or mural thickening BUT pseudopolyps, hemorrhagic ulcerations, mucosal bridges
ulcerative colitis
chronic inflammation leading to damaged muscularis propria and disturbed neuromuscular function leading to colonic dilation and risk for perforation
toxic megacolon
Patients present with diarrhea, flushing, and asthmatic symptoms; they also present with RLQ pain. What do you need for a risk assessment?
Biopsy of mass would reveal a yellow nodule around the area of the mural thickening with “salt and pepper: nuclear chromatin, serotonin positive, and chromogranin positive, synaptophysin stain
carcinoid syndrome from a well-differentiated neuroendocrine tumor on the appendix
Ki-67 labeling index
What are most NET tumors of the GI made up of, what do they secrete, and how can you diagnose them?
enterochromaffin cells, G cell tumors, and rectal trabecular L cells
secrete serotonin
diagnose with >10mg 5-hydroxyindolacetic acid in 24 hour urine collection
Usually asymptomatic and found incidentally, it can lead to appendiceal rupture as it fills with mucus, and ovarian involvement is common
Appendiceal Mucinous Neoplasm (AMN)
what is the genetic defect associated with congenital hyperbilirubinemia?
UGT1A1 gene
What is the most common congenital hyperbilirubinemia?
Gilberts Syndrome
13 year old male with mild isolated unconjugated hyperbilirubinemia and normal LFTs, caloric restriction, and certain drugs (acetaminophen and rifampin) make it worse. He was previously diagnosed with chronic hepatitis but it doesn’t seem right
Gilbert’s Syndrome
AR, UGT1A1*Var. 28
10 yo female with severe unconjugated hyperbilirubinemia (>25mg) at birth. Phototherapy reduced levels but phenobarbital did nothing. There were no detectable UDP-GT or activity expression in hepatic tissue. At 1 year old had an encephalopathic attack (kernicterus). She was placed on the liver transplant list.
Crigler-Najjar Syndrome (Type 1)
AR, UGT1A1 complete loss of function
15 yo female with moderate serum unconjugated hyperbilirubinemia (5-20mg) following severe UTI and treatment. Phototherapy and phenobarbital were effective as treatment?
Crigler-Najjar Syndrome (Type 2)
AD, UGT1A1 partial deficiency
A pregnant patient with intermittent jaundice, serum elevated conjugated hyperbilirubinemia due to reduced glutathione excretion, and mild RUQ pain. Undergoes liver exploratory biopsy that shows a “blackened liver”, iron stain negative, with coarse granular brown-black pigment in hepatocytes and electron-dense lysosomal granules due to auto-oxidation (epi, tyr, p-ala, tryp). What is the defect and condition? Treatment?
Dubin Johnson Syndrome
AR, CMOAT/MRP2/ABCC2 defect
No TX, good prognosis
Patient with photosensitivities and liver dysfunction, liver biopsy reveals fine golden brown pigmentation with protoporphyrin crystals in hepatocytes and bile canaliculi. What is the defect and condition?
Erythropoietic Protoporphyria
ferrochelatase enzyme defect
A patient with intermittent jaundice, serum elevated conjugated hyperbilirubinemia and mild RUQ pain. Undergoes liver exploratory biopsy that shows normal pigmentation of the liver. What is the defect and condition? Treatment?
Rotor Syndrome
AR, organic anion storage defect
No Tx/Benign
Obstruction at large hepatic veins or the IVC?
budd chiari syndrome (BCS)
obstruction at sinusoids or small hepatic veins
sinusoidal obstruction syndrome (SOS)
Patient who recently underwent chemotherapy 3 months ago comes in with painful hepatomegaly, mild jaundice, and ascites. Their alkaline phosphatase was elevated. Biopsy of liver revealed sinusoidal dilation, congestion, hepatic plate atrophy, and RBC extravasation at space of Disse. There were signs of hepatocellular necrosis with absent inflammation.
subacute HVOO or Sinusoidal Obstruction Syndrome (SOS)