Tumors of Liver and metabolic Dx Flashcards

Describe the clinical findings and pathophysiology of the common inborn errors of metabolism (Wilson disease, hemochromotosis, alpha-one antitrypsin deficiency) Compare and contrast the clinicopathologic features of benign liver tumors (Hemangioma, focal nodular hyperplasia, adenoma) Compare and contrast the clinicopathologic features of malignant liver tumors (metastasis, cholangiocarcinoma, hepatoceulluar carcinoma)

1
Q

most common form of hereditary hemochromatosis

A

AR dx of adult onset caused by mutations in the HFE gene produing hepcidin

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2
Q

ways to get secondary iron overload

A

multiple transfusions, ineffective erythropeosis, increased iron intake

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3
Q

major other diseases in hemochromatosis

A

cirrohosis, diabetes, and skin pigmentation

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4
Q

pathogenesis of hereditary hemochromatosis

A

defect in regulation of intestinal absorption of dietary iron

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5
Q

ways excess iron damages tissue

A

lipd peroxidation
stimulation of collagen formation
direct interactions of iron with DNA

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6
Q

morpholoc changes in hemochromatosis are responses to

A

deposition of hemosiderin in the liver, pancreas, heart and other organs

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7
Q

hepatomegaly, skin pigmentation, deranged glucose homeostatis/Diabetes, atypical arthritis

A

hemochromatosis

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8
Q

treatment for hemochromatosis

A

phlebotomy

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9
Q

genetic cause of wilson’s disease

A

loss of function in ATP7B gene on Chromosome 13

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10
Q

patheogenesis of wilson’s disease

A

lasck of ATP7B activity keeps copper from being excreted into bile, so then accumulates in hepatocytes

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11
Q

method of cellular damage in Wilson’s disease

A

excecc copper: Promotes free radicals, binds to sulfydryl groups of cellular proteins, and displaces other metals in hepatic metalloenzymes

Free copper damages red cells

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12
Q

main sx of Wilsons dx

A

green-brown rings in eyes

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13
Q

gross organ damage in Wilsons disease

A

fatty liver, hepatitis like injury progessing to cirhoisiss, basal ganglia damage, ele lesions

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14
Q

acute or chronic liver dx with psychosis, parkinson-like disease, and eye rings

A

Wilson disease

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15
Q

liver disease plus liver disease equals

A

a1 antitrypsin deficiency

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16
Q

PiZZ genotype

A

a1 antitrypsin deficiency

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17
Q

periodic acid-schiff stain showing magenta cytoplasmic granules

A

a1 antitrypsin deficiency

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18
Q

most common benign lesion of liver

A

cavernous hemangioma

19
Q

what NOT to do in a cavernous hemangioma

A

stick a needle in one

20
Q

discreete red-blue, soft nodules just below the capsule

A

cavernous hemangioma

21
Q

loalized, well-demarceted, poorly encapsulated lesion with a central fibrous scar

A

focal nodular hyperplasia

22
Q

occurs in women of child bearing age taking OCPs

A

hepatic adenoma

23
Q

well-demarcated but unencapsulated pale, yellow-tan or bile colored lesion

A

hepatic adenoma

24
Q

risks of hepatic adenoma

A

can rupture, particularly in pregnancy, Can possible turn into hepatocellular carcinoma

25
Q

major pathway to hepatocellular carcinoma from chronic liver disease

A

dysplastic nodules in cirrhotic livers

26
Q

major liver carcinogens

A

Hep B/C, alcoholic cirrhosis, alfatoxin exposure

27
Q

almost universial feature of hepatocellular carcinoma

A

structural and numeric chromosomal abnormalities indicitive of genomic instability

28
Q

most important genomic instabilies in live cancer

A

inflammation and regeneration from chronic hepatitis
aquired mutatins in oncogenes and tumor supressors
aquired defects in DNA repair

29
Q

liver cancer has a strong propensity for

A

vascular invasion

30
Q

globules of bile within the cytoplasm of cels and pseudocanaliculi

A

liver cancer

31
Q

rapid increase in liver size, sudden worsening of ascites, fever or pain

A

liver cancer

32
Q

current test for liver cancer

A

radiologic screening of pts with cirrhosis every 6 months

33
Q

age and sex of most hemochromatosis

A

50-70, male

34
Q

most common mutations in hemachromatosis

A

c282y and H63D on HFR

35
Q

most common type of liver malignancy

A

hetastases

36
Q

adenocarcinoma of the bile ducts is called

A

cholangiocarcinoma

37
Q

produces malignnat glands and tubules and does not contain bile

A

cholangiocarcinoma

38
Q

can cause cholangiocarcinoma

A

thorotrast, liver flukes, primary scedosing cholangitis

39
Q

dense desmoplastic stroma

A

cholangicarcinoma

40
Q

cords and nests of malignant hepatocytes

A

hepatic carcinoma

41
Q

bile and hyaline globules

A

hepatic carcinoma

42
Q

liver cancer with decent prognosis

A

fibrolamellar

43
Q

broud fibrous bands separating islands of eosinophillic cells

A

fobrolameller