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uWorld > Pathology- General Principles > Flashcards

Pathology- General Principles Flashcards

1
Q

Ionizing radiation causes cell damage through what 2 primary mechanisms?

A

1) DNA double-strand breakage

2) Generation of reactive oxygen species

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2
Q

What type of activating mutation is resistant to anti-EGFR agents (monoclonal antibodies like cetuximab and panitumumab which block EGFT)?

A

KRAS-activating mutations are resistant to anti-EGFR as they have constitutive activation of a downstream signal that is independent of EGFR stimulation or blockade.

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3
Q

High levels of aflatoxin (from Aspergillus fungi, can be found in “moldy” grains in some regions of china) can lead to what cancer?

A

Hepatocellular carcinoma

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4
Q

Gene product of HER2/neu?

A

Receptor tyrosine kinase

  • HER2/neu is an oncogene which accelerates cell proliferation
    - Can lead to breast and gastric carcinomas
    - Worse prognosis
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5
Q

The presence of ______ increases the ESR (erythrocyte sedimentation rate) which will look like rouleaux formation that settles at the bottom of the tube?

A

Acute phase reactants

  • C-reactive protein (CRP)
  • Serum Amyloid A (SAA)
  • Fibrinogen
  • Ceruloplasmin
  • Haptoglobin

The presence of pro-inflammatory cytokines (IL-1, IL-6, TNF-alpha) stimulates the liver to release acute-phase reactants which increases the ESR, a nonspecific marker for inflammation.

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6
Q

Adenoma-Carcinoma Sequence

A
  1. APC inactivation (normal colon—> hyperproliferative epithelium)
  2. K-ras activation (hyperproliferative epithelium—> adenoma)
  3. P-53 inactivation (adenoma—> carcinoma)
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7
Q

Tumor suppressor genes responsible for regulating cell cycle progression by preventing the transition from the G1 phase to the S phase?

A

-RB
(active when dephosphorylated)
(phosphorylation will deactivate it and lead to tumor progression)

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8
Q

Antioxidant enzymes that convert ROS to oxygen and water, therefore neutralizing their capacity for cellular damage?

A
  • Superoxide Dismutase
  • Glutathione peroxidase
  • Catalase
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9
Q

1st phase of wound healing

A

Hemostasis (0 hours-1 day)

   - vasoconstriction
   - Fibrin Clot Formation

*Platelets

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10
Q

2nd phase of wound healing

A

Inflammation (3 hours-5 days)

  • Vasodilation
  • Increased permeability
  • Inflammatory cell chemotaxix (Cellular infiltration)

*Macrophages

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11
Q

3rd phase of wound healing

A

Proliferation (3 days- 5 weeks)

  • Reepithelialization
  • Neovascularization (angiogenesis)
  • Collagen production

*Fibroblasts

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12
Q

4th phase of wound healing

A

Remodeling (3 weeks- 2 years)
-Reorganization and cross-linking of collagen (Type 3–>Type 1)

*Matrix Metalloproteinases

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13
Q

BRCA1/2 are what type of genes? Mutation leads to what cancers?

A

Tumor Suppressor (DNA repair genes)

Breast & Ovarian Cancer

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14
Q

RAS is what kind of gene? Leads to what?

A

Oncogene (GTP-binding protein)

Cholangiocarcinoma
Pancreatic Adenocarcinoma

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15
Q

BRAF is what kind of gene? Leads to what?

A

Oncogene (RAS singnaling transduction)

Hairy cell Leukemia
Melanoma

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16
Q

VHL is what kind of gene? Leads to what?

A

Tumor suppressor (Ubiquitin ligase component)

Renal cell carcinoma
Von Hippel-Lindau Syndrome

17
Q

RB is what kind of gene? Leads to what?

A

Tumor Suppressor (G1/S transition inhibitor)

Retinoblastoma
Osteosarcoma

18
Q

ABL is what kind of gene? Leads to what?

A

Oncogene (Nonreceptor tyrosine kinase)

Chronic Myelogenous Leukemia

19
Q

ERBB2 (HER2) is what gene? Leads to what?

A

Oncogene (Receptor Tyrosine Kinase)

Breast Cancer

20
Q

ERBB1 (EGFR) is what type of gene? Leads to what?

A

Oncogene (Receptor tyrosine kinase)

Lung adenocarcinoma

21
Q

MYC is what kind of gene? Leads to what?

A

Oncogene (transcription factor)

Burkitt Lymphoma

22
Q

APC/B-catenin is what kind of gene? Leads to what?

A

Tumor suppressor (WNT signaling pathway)

Colon, gastric, & pancreatic cancers
Familial adenomatous polyposis

23
Q

6 Common Hereditary Cancer Syndromes (They are all Autosomal Dominant)

A

Lynch Syndrome—>MSH2, MLH1, MSH6, PMS2

Familial Adenomatous Polyposis—> APC

von Hippel-Lindau Syndrome—> VHL

Li-Fraumeni Syndrome—> TP53

MEN1–> MEN1 (Parathyroid, Pituitary, Pancreatic)

MEN2–> RET (Medullary thyroid, Pheochromocytoma, Parathyroid)

24
Q

Function of metalloproteinases?

A

They are zinc-containing enzymes which:

  • degrade the extracellular matrix
  • participate in normal tissue remodeling
  • participate in tumor invasion through the basement membrane and connective tissue
25
Q

Features of Anaplastic (undifferentiated) Tumors

A
  1. No resemblance to the tissue of origin
  2. Composed of pleomorphic cells (Significant variation in shape and size)
  3. Large, hyperchromatic nuclei that grow in a disorganized fashion
  4. Numerous, abnormal mitotic figures
  5. Giant, mulinucleated tumor cells
26
Q

What type of gene is HER1? What tumor is associated?

A

Oncogene

Squamous Cell Lung Cancer

27
Q

Disease related to Chromosome 3?

A
  • VHL

- RCC (Renal cell Carcinoma)

28
Q

Disease related to chromosome 4?

A
  • ADPKD (appears later in life)
  • Achondropolasia (think of short arms and legs)
  • Huntington Disease
29
Q

Diseases related to Chromosome 5?

A

-FAP (problem with APC gene)

30
Q

Disease related to chromosome 6?

A

-HFE gene causing Hereditary Hemochromatosis

31
Q

Disease related to chromosome 7?

A
  • Cystic Fibrosis (has multisystem disease involvement)
    • Bronchiectasis
    • Endocrine and Exocrine pancreatic insufficiency
    • Positive sweat chloride test
32
Q

Disease related to chromosome 9?

A

Friedrich’s Ataxia (GAA repeat)

33
Q

Diseases related to chromosome 11?

A
  • Wilma Tumor (seen in children)

- Sickle Cell

34
Q

Diseases related to chromosome 13?

A

Patau Syndrome (will have midline defects like cleft palate)

This is a trisomy

35
Q

Diseases related to chromosome 15?

A
  • Prader Willi (hyperphagia and obesity)

- Angelman Syndrome (happy puppet)

36
Q

Diseases related to chromosome 17?

A

NF-1 (cafe-au-lait spots)

37
Q

Diseases related to chromosome 18?

A

Edwards Syndrome (rocker bottom feet and overlapping digits)

This is a trisomy

38
Q

Diseases related to chromosome 21?

A

Down Syndrome (endocardial cushion defects, early onset Alzheimer’s disease due to 3 copies of APP-Amyloid Precursor protein)

This is a trisomy

39
Q

Diseases related to chromosome 22?

A
  • NF-2
    • bilateral neuroacoustic schannomas
  • DiGeorge Syndrome
    • dysgenesis of 3rd and 4th pharyngeal pouches
    • absent thymus which will result in recurrent infections
    • hypocalcemia which will result in seizures

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