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amyloidosis + other Flashcards

1
Q

amyloidosis is the

A

abnormal aggregation of protein (or their fragments into β-sheat

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2
Q

amyloidosis –> …. (it causes in the cellular level)

A

damage and apoptosis

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3
Q

amyloidosis - common types

A
  1. AL (primary) 2. AA (secondary) 3. dialysis-related
  2. heritable 5. age related (senile) systemic
  3. organ specific
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4
Q

primary (AL) amyloidosis - mechanism

A

deposition of proteins from Ig Light chains (amyloid Light: AL)

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5
Q

primary (AL) amyloidosis is associated with

A

plasma cell dyscrasias (multiple myeloma)

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6
Q

primary (AL) amyloidosis often affects …(including, and causes)

A

multiple organs including renal (nephrotic syndrome), cardiac (restrictive cardiomyopathy, arrhythmia), hematologic, (easy bruising, splenomegaly), GI (hepatomegaly), neurologic (neuropathy)

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7
Q

secondary (AA) amyloidosis - seen with

A

chronic inflammatory conditions such as RA, IBD, spondyloarthropathy, protracted infection, famlilial Mediterranean fever

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8
Q

secondary (AA) amyloidosis - fibrils composed of

A

serum Amyloid A

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9
Q

secondary (AA) amyloidosis - affects

A

often multisystem like AL amyloidosis

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10
Q

dialysis related amylodisis - fibrils composed of

A

β2-microglobulin

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11
Q

dialysis-related amylodisis - seen in

A

patients with end-stage-renal-disease and/or long-term dialysis

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12
Q

dialysis-related amylodisis may present as

A

Carpal tunnel syndrome

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13
Q

heritable amyloidosis (including….)?

A

heterogenous group of disorders, including familial amyloid polyneuropathies due to transthyretin gene mutation

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14
Q

heritable amyloidosis is a heterogenous group of disorders, including (and due to..)

A

familial amyloid polyneuropathies due to transthyretin gene mutation

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15
Q

familial amyloid polyneuropathies are due to

A

transthyretin gene mutation

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16
Q

age-related (senile) systemic is due to

A

deposition of normal (wild-type) transthyretin in myocardium and other sites

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17
Q

age-related (senile) systemic vs primary amyloidosis according to cardiac function

A

cardiac dysfunction in age-related (senile) systemic has a slower progression relative to primary amyloidosis

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18
Q

organ specific amyloidosis?

A

amyloid deposition localized to a single organ

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19
Q

organ specific amyloidosis - Most important form is

A

Alzheimer disease

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20
Q

Alzheimer disease - mechanism of amyloidosis

A

deposition of β-amyloid protein cleaved from amyloid precirsor protein (APP)

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21
Q

islet amyloid polypeptid is commonly seen in …. (and is caused by)

A

diabetes mellitus type 2

deposition of amylin in pancreatic islets

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22
Q

Amylin is a

A

peptide hormone that is cosecreted with insulin from the pancreatic beta-cell

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23
Q

amyloidosis - appearance

A
  • congo red stain
  • congo red stain shows apple green birefringence under polarized light
  • H% eosin
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24
Q

β2-microglobulin fibrils - amyloidosis - type?

A

dialysis-related amyloidosis

25
islet amyloid polypeptid?
deposition of amylin in pancreatic islets (DM2)
26
Isolated atrial amyloidosis - due to
Organ specific amyloidosis --> due to ANP (COMMON IN NORMAL AGING)
27
p53 - product
Transcription factor for p21--> blocks G1 to S phase
28
p16 - product / associated tumor
Cyclin-dependent kinase inhibitor 2A | melanoma
29
NF1 / NF2- product
Ras GTPase activating protein (neurofibromin) | Merlin (schwannomin protein)
30
PTEN - associated tumor
1. breast 2. prostate 3. endometrial
31
TSC1 + TSC2 - products
Hamartin protein | Tuberin protein
32
VHL product
HIF1a inhibitor
33
BRAF - product + tumor
serine/threonine kinase | Melanoma, non-Hodgkin lymphoma
34
BCR-ABL - associated tumor
CML, ALL
35
dermatomyositis and polymyositis predispose to visceral malignancy particularly
genitourinary
36
immunodeficiency predisposes to (neoplasm)
1. lymphoma 2. melanoma 3. renal cell carcinoma 4. SCC of skin
37
neoplasm - HCV causes | neoplasm - HBV causes
hepatocellular carcinoma + LYMPHOMA
38
aromatic amines - examples
- benzidine | - 2- naphthylamine
39
carcinogens - arsenic causes
1. angiosarcoma of the liver 2. lung cancer 3. SCC of the skin
40
neoplasms that produce PTHrp
1. SCC of the lung 2. renal cell carcinoma 3. breast cancer 4. bladder 5. ovarian 6. head and neck
41
tumor markers - CEA
1. colorectal ca 2. pancreatic ca 3. gastric ca 4. breast ca 5. medullary thyroid ca
42
breast cancer tumor markers
1. CEA 2. CA 27-29 3. CA 15-3
43
tumor markers - β-hCG
``` 1. hydatidiform moles 2 .Chroriocarcinomas 3. testicular ca 4. mixed germ line tumor 5. Dysgerminoma 6. Large cell Ca of lung ```
44
tumor markers - alkaline phosphatase
1. metastasis to bone 2. metastasis to liver 3. seminoma (placental alkaline phosphatase) 4. Paget disease of the bone
45
tumor markers - a-fetoprotein
1. hepatocellular ca 2. hepatoblastoma 3. yolk sac (endodermal sinus) tumor 4. mixed germ cell tumor
46
a-fetoprotein in pregnancy
high levels --> neural tube and abdominal wall defects | low levels --> Down syndrome/Patatu (13)/Edwards (18)
47
Psammoma bodies are seen in
1. papillary carcinoma of thyroid 2. serous papillary cistadenocarcinoma of ovary 3. meningioma 4. malignant mesothelioma
48
Good syndrome? - as a paranaeoplastic syndrome - MCC
- hypogammaglobulinemia | - Thymoma
49
pure anemia as a paranaeoplastic syndrome - MCC
thymoma
50
carcinomas that spread hematogeneously
1. hepatocellular 2. renal cell 3. follicular thyroid 4. choriocarcinoma
51
Paraneoplastic encephalomyelitis? as a paranaeoplastic syndrome - MCC?
- Antibodies against Hu antigens in neurons | - small cell lung ca
52
Paraneoplastic cerebellar degeneration? as a paranaeoplastic syndrome - MCC?
- Antibodies against Hu, Yo and Tr antigens in Purkinje cells - small cell lung ca, gynecologic and breast ca, Hodgkin
53
Anti-NMDA receptor encephalitis? as a paranaeoplastic syndrome - MCC?
Psychiatric disturbances, ,e,ory deficits, seizures, dyskenisias, autonomic instability, language dysfunction ovarian teratoma
54
Opsoclonus myoclonus ataxia syndrome as a paranaeoplastic syndrome - MCC?
Neuroblastoma (children) | small cell lung ca (adults)
55
ovarian Ca - paraneoplastic
1. Anti-NMDA receptor encephalitis (ovarian teratoma) | 2. PTHrp
56
P-glycoprotein - AKA/seen in
- Multidrug resistance protein 1 (MDR1) | - Classically seen in adrenal cell ca, but also can expressed by other cacner cells (eg. colon. liver)
57
1ry tumors that give metastasis to liver (from the MC)
Collon >> stomach > pancreas
58
1ry tumors that give metastasis to bone (from the MC)
prostate,breast > lung,thyroid,kidnry
59
1ry tumors that give metastasis to brain (from the MC)
lung > breast > prostate > melanoma > GI

Pathology FA (4 decks)

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