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STEP 1 > Pathology > Flashcards

Pathology Flashcards

1
Q

Mutation of the ___ gene is the FIRST step in the classic adenoma-to-carcinoma sequence; it is found in most cases of SPORADIC colon cancer and in all patients with Familial Adenomatous Polyposis

A

APC tumor suppressor

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2
Q

The microsatellite instability pathway is characterized by mutations in DNA _____ genes (MLH1 and MSH2) and is implicated in the development of hereditary nonpolyposis colorectal cancer (Lynch syndrome).

A

mismatch repair

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3
Q

Aflatoxin exposure is associated with a G:C → T:A transversion in the p53 gene, which greatly increase the risk of developing _____ carcinoma.

A

hepatocellular

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4
Q

Osteosarcomas typically form when a mesenchymal stem cell develops mutations in the following genes:

A

RB & TP53

Tumor Supressor Genes

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5
Q

Activating mutations of ___ are responsible for most cases of hairy cell leukemia & Melanomas

A

BRAF

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6
Q

Activating mutations in the ___ proto-oncogene are common in colorectal cancer and non-small cell lung cancer. It encodes for a GTPase that relays cellular growth and proliferation signals from outside the cell.

A

KRAS

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7
Q

Germ-line mutations of the ___ proto-oncogene cause multiple endocrine neoplasia type 2

A

RET

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8
Q

most common primary bone malignancy in children and young adults. It occurs most frequently at the metaphyses of long bones and presents with local pain and swelling. Most cases are associated with sporadic or inherited mutations in RB1 (hereditary retinoblastoma) and TP53 (Li-Fraumeni syndrome).

A

Osteosarcoma

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9
Q

TP53 tumor suppressor gene, which encodes for P53, a protein that regulates cell-cycle progression and maintains genomic integrity by activating DNA repair following damage. Germ-line mutations are associated with ___ syndrome

A

Li-Fraumeni syndrome

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10
Q

In humans, ____ is concentrated in liver cells; elevated levels suggest an obstructive biliary process.

A

alkaline phosphatase

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11
Q

zinc-containing enzymes that degrade/penetrate components of the extracellular matrix (ECM) and basement membrane

A

Metalloproteinases

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12
Q

Tumor Cell Invasion:
Tumor cells detach from surrounding cells (↓cadherins)
Tumor cells adhere to the basement membrane (↑laminin)
Tumor cells invade the basement membrane (metalloproteinases)

A

Detach
Adhere BM
Degrade BM

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13
Q

BRCA1 and BRCA2 in particular are involved in repair of double-stranded ___. A mutation increases the risk of developing breast and ovarian cancer.

A

DNA breaks

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14
Q

Epidermal growth factor receptor (EGFR) stimulation leads to downstream activation of ___, a membrane-bound GTP-binding protein that stimulates cellular growth and proliferation.

A

KRAS

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15
Q

stimulation leads to downstream activation of KRAS, a membrane-bound GTP-binding protein that stimulates cellular growth and proliferation.

A

Epidermal growth factor receptor (EGFR)

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16
Q

Epidermal growth factor receptor (EGFR) stimulation leads to downstream activation of KRAS, a membrane-bound ___-binding protein that stimulates cellular growth and proliferation.

A

GTP

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17
Q

Unchecked cellular growth via overexpressing ___ or by developing constitutive activating mutations in the ___ proto-oncogene.

A

EGFR

KRAS

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18
Q

Lipopolysaccharides trigger the degradation of __ inhibitor protein allowing it to release NFkB so it can enter the nucleus and stimulate the transcription of cytokines like TNF alpha and IL-1

A

IkB

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19
Q

Janus kinase 2 (JAK2) is a non- receptor tyrosine kinase involved in the signaling pathway for myeloproliferation. Constituent activation is associated with ___ disorders.

A

primary myeloproliferative

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20
Q

The principal protein that stimulates the production and release of neutrophils from the bone marrow.

A

Granulocyte colony-stimulating factor (G-CSF)

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21
Q

An essential step in the MHC I processing of a virus is the breakdown of intracellular viral proteins by the ___ pathway.

A

ubiquitin proteasome

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22
Q

The key growth factors that promote ___ in neoplastic and granulation tissue are vascular endothelial growth factor (VEGF) and fibroblast growth factor (FGF).

A

angiogenesis

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23
Q

The key growth factors that promote angiogenesis in neoplastic and granulation tissue are __ & __

A

vascular endothelial growth factor (VEGF)

fibroblast growth factor (FGF)

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24
Q

Require gain-of-function mutations to become cancerous. They typically encode proteins that promote cell division (eg, growth factors, receptors, signal transduction factors). Only one allele must be damaged to increase the risk of cancer formation.

A

Protooncogenes (RET)

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25
Q

Loss of function mutation results in unregulated growth. They typically encode proteins involved in apoptosis or inhibition of cell cycle progression; both alleles must be inactivated to increase the risk of malignancy.

A

Tumor suppressor genes (TP53, RB)

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26
Q

Enlarged, ulcerated left tonsil or nontender, nonmobile left neck mass (cervical/supraclavicular) with Squamous Cell Carcinoma is caused by what virus most likely?

A

HPV

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27
Q

HPV produces viral oncoproteins __ & __

A

E6 and E7

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28
Q

HPV viral protein __ binds to __, a tumor suppressor protein that normally inhibits the proliferation of cells with genetic abnormalities.

A

E6–p53

(Ubiquitination of the E6-p53 complex induces degradation of p53, leading to unregulated cellular growth) E6 is like a SUICIDE BOMBER

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29
Q

Inactivation of ___ protein activity by human papillomavirus can lead to the formation of head and neck squamous cell carcinoma.

A

retinoblastoma

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30
Q

HPV viral protein __ binds to __ protein, which results in the unbinding of E2F (a transcription factor that induces cell cycle activation) allowing it to move into the nucleus and cause unregulated DNA replication and cyclin-mediated cell cycling.

A

E7

retinoblastoma (Rb)

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31
Q

E7–Rb complex displaces what transcription factor from being bound to Rb?

A

E2F

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32
Q

How does HPV first establish infection in the cells?

A

Enters through micro-tears in the squamous cell epithelium and integrates it’s genes into the host cell genome to code for viral oncoproteins E6 and E7

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33
Q

Hemangioblastoma, clear cell renal carcinoma, pheochromocytoma

A

von Hippel-Lindau syndrome

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34
Q

MSH2/6
MLH1
PMS2

mutations are associated with that cancers (3)

A

Lynch Syndrome
Colorectal, Endometrial, Ovarian cancers

Lynch the CEO

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35
Q

tumors contain neoplastic cells that are morphologically and architecturally similar to normal cells in the tissue of origin.

A

Well differentiated (low-grade)

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36
Q

tumors contain neoplastic cells that lack most of the characteristic features of the original tissue.

A

poorly differentiated (high-grade)

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37
Q

Neoplastic cells that demonstrate a complete lack of differentiation are termed

A

anaplastic

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38
Q 
Tissue with:
Mitotic figures
Giant cells
variation in size/shape of cells (pleomorphic)
Loss of polarity (no architecture/sheets/nests)
and/or
High nucleus: cytoplasm ration 
Deep staining (hyperchromatic)
A

anaplastic

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39
Q

Disordered cell growth

A

Dysplasia

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40
Q

switching from one differentiated cell type to another often in response to irritants (eg, tobacco smoke or gastric acid).

A

Metaplasia

41
Q

Li-Fraumeni Syndrome is autosomal ____

A

dominant

42
Q

Li-Fraumeni syndrome is caused by an autosomal dominant mutation in the tumor suppressor gene ___.

A

TP53

43
Q

Leukemia, sarcomas, and tumors of the breast, brain, and adrenal cortex are most common.

A

Li-Fraumeni syndrome

44
Q

an autosomal-DOMINANT hereditary disorder that results in the formation of innumerable colonic polyps and a nearly 100% risk of colorectal cancer.

A

Familial adenomatous polyposis

45
Q

is associated with hereditary nonpolyposis colorectal cancer, but patients do not have extensive polyposis in the colon but are very likely to develop colon cancer (from dysplasia in flat colonic mucosa).

A

Lynch syndrome

46
Q

caused by a DNA Mismatch Repair gene loss of function
vs

caused by protein that degrades beta-catenin= increased cellular concentrations of beta-catenin, which activates Wnt pathways = hyperproliferation

A

Lynch (a few polyps in the colon)
vs
FAP (Hundreds of polyps in the colon)

Both cause Colon Cancer

47
Q

Immunoglobulin gene rearrangement is impaired in

A

hyper-IgM syndrome

48
Q

Deficiency of the ___ complement component causes increased susceptibility to encapsulated bacteria
(S. pneumoniae, H. influenzae, Neisseria) and also to developing SLE

A

C1

49
Q

Kartagener syndrome is a form of primary ciliary dyskinesia characterized by the triad of situs inversus, chronic sinusitis, and bronchiectasis. It occurs due to mutations that impair the structure or function of

A

cilia

50
Q

The Rb protein, in its active (dephosphorylated) form, regulates cell cycle progression by preventing the transition from the ____

A

G1 phase to the S phase

51
Q

___ and DNA polymerase are enzymes involved in DNA synthesis, which occurs during the S phase of the cell cycle.

A

Dihydrofolate reductase

52
Q

__ of the Rb protein inactivates it (due to it releasing EF2) allowing cells to progress through the G1/S checkpoint and proliferate.

A

Phosphorylation

53
Q

__-positive breast cancers have a higher risk of disease recurrence and worse prognosis

A

HER2

54
Q

The ___ oncogene codes for a human epidermal growth factor (EGF) receptor with tyrosine kinase activity in the intracellular domain. It is known to play a role in the activation of transduction pathways that control epithelial growth and differentiation. These epithelial cell carcinomas have increased proliferation and resistance to apoptosis.

A

HER2

55
Q

Estrogen and progesterone receptors are intracellular receptors that are frequently overexpressed in patients with breast cancer. Stimulation of these hormone receptors increases

A

cellular proliferation

56
Q

In cancer-related cachexia, high levels of pro-inflammatory cytokines lead to increased ___ of sarcomeric muscle proteins, which in turn leads to extensive skeletal muscle loss.

A

ubiquitination

57
Q

Thought to mediate paraneoplastic cachexia in humans by suppressing appetite and increasing basal metabolic rate.

A

Tumor necrosis factor-α

58
Q

The RET proto-oncogene codes for a membrane-bound ____ receptor involved in cell cycle regulation. Constitutive activation of the receptor leads to unregulated cellular proliferation.

A

tyrosine kinase

59
Q

___ cancer is a neuroendocrine tumor that arises from calcitonin-secreting C (parafollicular) cells.

A

Medullary thyroid

60
Q

Adenoma to Carcinoma sequence:

Progression from normal mucosa to a small adenomatous polyp (adenoma) = ___ mutation

Increase in the size of the adenoma due to unregulated cell growth = ___ mutation

Malignant transformation of adenoma into carcinoma = ____mutation

A

APC
KRAS
TP53

61
Q

Bony pain in an older man with osteoblastic lesions on imaging is highly suspicious for ___ cancer.

A

prostate

62
Q

Metaplasia can lead to subsequent ___ and malignant transformation.

A

dysplasia

63
Q

Tumor associated with marker:

Alpha Fetoprotein

A

HCC

Non seminomatous Germ Cell

64
Q

Tumor associated with marker:

CA 19-9

A

Pancreatic

65
Q

Tumor associated with marker:

CA 125

A

Ovarian

66
Q

Tumor associated with marker:

Carcinoembryonic antigen

A

GI

Colorectal, etc.

67
Q

Tumor associated with marker:

hCG

A

Choriocarcinoma

Seminomatous Germ Cell

68
Q

Proto-Oncogene associated cancer:

ALK

A

Large cell lymphoma

Non-small cell lung cancer

69
Q

Proto-Oncogene associated cancer:

BRAF

A

Melanoma

70
Q

Proto-Oncogene associated cancer:

HER1

A

Squamous cell lung cancer

71
Q

Proto-Oncogene associated cancer:

HER2/neu

A

Breast and Ovarian cancer

72
Q

Proto-Oncogene associated cancer:

MYC

A

Neuroblastoma

Small cell lung cancer

73
Q

Proto-Oncogene associated cancer:

RET

A

Medullary Thyroid Cancer

Pheochromacytoma

74
Q

Anti-oncogenes (Tumor suppressors) associated cancers:

APC/ Beta Catenin

A

Colorectal cancer
Pancreatic Cancer
Gastric Cancer
FAP

75
Q

Anti-oncogenes (Tumor suppressors) associated cancers:

BRCA1/2

A

Breast cancer

Ovarian cancer

76
Q

Anti-oncogenes (Tumor suppressors) associated cancers:

RB

A

Retinoblastoma, Osteosarcoma

77
Q

Anti-oncogenes (Tumor suppressors) associated cancers:

VHL

A

RCC

78
Q

Anti-oncogenes (Tumor suppressors) associated cancers:

WT1

A

Wilms Tumor

79
Q

Colorectal cancer
Desmoids/Osteomas
Brain Tumors

A

Familial Adenomatous Polyposis (APC gene)

ABCDO
APC, Brain, Colorectal, Desmoid/Osteoma

80
Q

Hemangioblastomas
Clear cell renal carcinoma
Pheochromacytoma

A

Von Hippel Lindau

VHL gene

81
Q

Pituitary adenomas
Pancreatic adenomas
Parathyroid adenomas

A

MEN 1

82
Q

Medullary Thyroid cancer
Pheochromacytoma
Parathyroid Hyperplasia

A

MEN2a

83
Q

Cholangiocarcinoma (gallbladder)

Pancreatic adenoma

A

RAS (GTP binding protein)

84
Q

Burkitt Lymphoma proto-oncogene

A

MYC (transcription factor)

85
Q

Lung adenocarcinoma proto-oncogene

A

ERBB1
(EGFR)
(Receptor Tyr Kin.)

86
Q

CML proto-oncogene

A

ABL

non-receptor Tyr. Kin

87
Q

Hairy cell Leukemia
Melanoma
proto-oncogene

A

BRAF

RAS signal transduction

88
Q

Li- Fraumeni Syndrome
Most Cancers
Tumor suppressor gene

A

TP53

Genomic Instability

89
Q

Tumor suppressor gene:

RB function

A

G1/S transition inhibitor

90
Q

Tumor suppressor gene:

VHL function

A

Ubiquitin ligase component

91
Q

Tumor suppressor gene:

APC function

A

Beta catenin

Wnt signaling pathway

92
Q

Tumor suppressor gene:

TP53 function

A

Genomic Stability

93
Q

proto-oncogene function

BRAF

A

Ras signal transduction

94
Q

proto-oncogene function

RAS

A

GTP binding protein

95
Q

What type of genes are:

RAS, MYC, ERBB1, ABL. BRAF

A

Proto-oncogene

1 hit gain of function

96
Q

BRCA1/2

APC, TP53, RB, WT1, VHL

A

Tumor suppressor genese

2 hit loss of function

97
Q

Osteoblastic bone metastases are associated with what 3 cancers

A

Prostate
SMALL cell Lung
Hodgkin

98
Q

Osteolytic bone metastases are associated with what 5 cancers

A 
Multiple Myeloma
NON-Small cell Lung
Non-Hodgkin
Renal Cell carcinoma
Melanoma

STEP 1 (88 decks)

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