Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

T1 - Phase 2 - Systems Modules (I) > Neoplasia/Hematology - Mechanisms of Disease - Neoplasia; Cancer Genetics > Flashcards

Neoplasia/Hematology - Mechanisms of Disease - Neoplasia; Cancer Genetics Flashcards

1
Q

Name the leading three cancers causing death in women.

A
  1. Lung
  2. Breast
  3. Colon
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Name the leading three cancers causing death in men.

A
  1. Lung
  2. Prostate
  3. Colon
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What behavior indicates that a tumor is ‘cancerous’?

A

It can invade and metastasize

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What suffix is typically given to benign tumors?

And malignant epithelial tumors?

And malignant mesenchymal tumors?

A

‘-oma’

‘-carcinoma’

‘-sarcoma’

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Name a few of the misnomers for malignant tumors that end in ‘-oma’ (not ‘-sarcoma’ or ‘-carcinoma’).

A

Glioma;

mesothelioma;

lymphoma;

melanoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is tumor differentiation?

A

The degree of tumor resemblence to normal tissue

(typically, either well-, moderately-, or poorly-differentiated)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Benign tumors are typically ______-differentiated.

A

Benign tumors are typically well-differentiated.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Name some of the histological features of malignant tumors:

__________ nuclei and nucleoli

__________ cytoplasm

__________ nucleus/cytoplasm ratio

A

Name some of the histological features of malignant tumors:

Enlarged nuclei and nucleoli

Decreased cytoplasm

Increased nucleus/cytoplasm ratio

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Name some of the histological features of malignant tumors:

Abnormal ________

Architectural ________

____plasia

____morphic cells

A

Name some of the histological features of malignant tumors:

Abnormal mitoses

Architectural disarray

Anaplasia

Pleomorphic cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What does it mean that malignant cells are often pleomorphic?

A

They are bizarrely shaped

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Malignant tumor cells often have nuclei with what appearance?

A

Hyperchromatic;

enlarged

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

A tissue has many cells undergoing mitoses. Does this indicate malignancy?

A

It is suggestive but not definitive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What does it mean that malignant cells may show abnormal mitoses and/or architectural disarray?

A

They may show tri- or tetra-polar mitotic spindles;

many cells may be undergoing mitosis at once

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are the main three routes of metastatic spread?

A

Seeding (more rare);

lymphatic spread (typically carcinomas);

hematogenous spread (typically sarcomas)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is unique about the lymphatics of malignant tumors?

A

They are nonfunctional/absent

(lymphatic spread occurs via lymphatics in surrounding tissues)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are the two main organ systems to which metastases land via hematogenous spread?

A

Lungs;

liver

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

True/False.

Hematogenously spread metastases often come to rest in the first capillary bed they find.

A

True.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What is dysplasia?

A

Reversible and disordered growth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What often comes before dysplasia?

A

Metaplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Dysplasia most often arises following chronic irritation/damage in what tissue types?

A

Mucosal tissues

(and more broadly, epithelial)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

True/False.

Dysplasia is often characterized by increased epithelial mitoses, including an increase in those outside the basal layer.

A

True.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Malignancy = ____plasia + ______

A

Malignancy = dysplasia + invasiveness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Is ductal carcinoma in-situ (DCIS) considered invasive?

A

No; it is pre-invasive

(the basement membrane has not yet been breached)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Normal function for what four main gene types are often disrupted in neoplasms?

________-_______genes

_______ _________ genes

Apoptosis genes

DNA repair genes

A

Normal function for what four main gene types are often disrupted in neoplasms?

Proto-oncogenes

Tumor suppressor genes

Apoptosis genes

DNA repair genes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Normal function for what four main gene types are often disrupted in neoplasms?

Proto-oncogenes

Tumor suppressor genes

_________ genes

______ ______ genes

A

Normal function for what four main gene types are often disrupted in neoplasms?

Proto-oncogenes

Tumor suppressor genes

Apoptosis genes

DNA repair genes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

In order to increase cell growth, a cell needs how many mutations of a particular proto-oncogene’s alleles (one or two) to become an oncogene?

A

One

(I.e. only one allele needs to be mutated.)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

In order to increase cell growth, a cell needs how many inactivating mutations of a particular tumor supressor gene’s alleles (one or two)?

A

Two

(I.e. both alleles needs to be mutated.)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Tumor suppressor gene mutations that result in increased cell growth are ______-of-function mutations.

Oncogenes are ______-of-function mutations.

A

Tumor suppressor gene mutations that result in increased cell growth are loss-of-function mutations.

Oncogenes are gain-of-function mutations.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

In order to increase cell growth, a cell needs how many inactivating mutations of a particular apoptosis gene’s alleles (one or two)?

A

Two (typically)

(I.e. both alleles need to be mutated.)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What is the main issue seen in cells with mutated apoptosis genes?

A

Inability to undergo apoptosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

In order to increase cell growth, a cell needs how many inactivating mutations of a particular DNA repair gene’s alleles (one or two)?

A

Two (typically)

(I.e. both alleles need to be mutated.)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What are the three main categories of carcinogens?

A

Chemical carcinogens;

radiation carcinogens;

microbial carcinogens

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What is a direct-acting chemical carcinogen?

A

One that requires no metabolic conversion to its carcinogenic form

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What is an indirect-acting chemical carcinogen?

A

One that requires metabolic conversion to its carcinogenic form

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What is the size of detection of most tumors on either palpation or imaging?

A

1 cm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

How many cells are in the average 1 cm tumor?

A

1 billion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

___% of patients already have metastases at the time of malignancy diagnosis.

A

30% of patients already have metastases at the time of malignancy diagnosis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

The proliferative pool of cells within a neoplasm is known as the what?

A

The growth fraction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

The purpose of a mitotic figure count is to measure what?

What is the equation used?

A

A tumor’s cell proliferation rate;

MFC = # of mitoses / 10 hpf (high power fields)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

The purpose of a proliferation (mitotic) index is to measure what?

What is the ratio used?

A

A tumor’s cell proliferation rate;

PI = proliferating cells / G0 cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

How are flow cytometry and immunohistochemistry used in assessing the proliferation rate of a particular tumor?

A

Flow cytometry — analysis of cells in S-phase

Immunohistochemistry — analysis of cell proliferation markers (e.g. PCNA, Ki-67 / MIB-1)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Are neoplasias typically painful or painless lumps?

A

Painless

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What is tumor grade?

A

Evaluation of differentiation

(# of mitoses; architectural disarray; presence of necrosis; etc.)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

What is tumor stage?

A

Assessment of tumor size and spread

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

What system is typically used in tumor staging?

A

The TNM system

Tumor size

Nodal involvement

Metastases

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

True/False.

Serum tumor markers are typically the first indication that a tumor is present.

A

False.

Serum tumor markers are typically low or not present early in the disease course.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

What is the number one method of cancer diagnosis?

A

Biopsy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Activation of RAS causes what in tumors?

A

Excess proliferation signals

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Inactivation of RB causes what in tumors?

A

Inhibited tumor suppression

(and thus, excess growth)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Expression of PD-L1 causes what in tumors?

A

Immunoevasion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

What enzyme do tumors overactivate to ensure replicative immortality?

A

Telomerase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

Why do tumors produce VEGF?

A

To induce angiogenesis

53
Q

Overexpression of BcL-2 does what for tumors?

A

Inhibits apoptosis

54
Q

Why might a tumor overexpress GLUT-1?

A

To deregulate cellular energetics

55
Q

What does decreased expression of E-cadherin do for tumors?

A

Allows for invasion and metastases

(cells no longer bound together)

56
Q

What does increased expression of CSF3 or G-CSF do for tumors?

A

Increases tumor-promoting inflammation

(these substances are pro-wound-healing / pro-growth)

57
Q

What does inactivation of MSH2 do for tumors?

A

Increases the mutation rate

(MSH2 and MLH1 are involved in mismatch repair)

58
Q

Tumor cells typically use what metabolic process for most of their energy production?

A

Glycolysis

59
Q

What are ‘driver mutations’?

A

Mutations that give tumors growth advantages

60
Q

True/False.

The progression of a cell from normal to malignant is always a multistep process.

A

True.

61
Q

_________ cells are the cells in a newly forming neoplasm.

_______ is the death of most of these cells.

_________tion is the growth of the cells that can divide indefinitely.

Transformed cells become independent of anchorage and serum.

Metastatic cells are fully tumorigenic that can migrate and form distant colonies.

A

Primary cells are the cells in a newly forming neoplasm.

Crisis is the death of most of these cells.

Immortalization is the growth of the cells that can divide indefinitely.

Transformed cells become independent of anchorage and serum.

Metastatic cells are fully tumorigenic cells that can migrate and form distant colonies.

62
Q

Primary cells are the cells in a newly forming neoplasm.

Crisis is the death of most of these cells.

________tion is the growth of the cells that can divide indefinitely.

________ed cells become independent of anchorage and serum.

__________ cells are fully tumorigenic that can migrate and form distant colonies.

A

Primary cells are the cells in a newly forming neoplasm.

Crisis is the death of most of these cells.

Immortalization is the growth of the cells that can divide indefinitely.

Transformed cells become independent of anchorage and serum.

Metastatic cells are fully tumorigenic cells that can migrate and form distant colonies.

63
Q

True/False.

Tumor suppressor mutations can be thought of as ‘autosomal recessive’.

A

True.

(Two hits needed)

64
Q

True/False.

Proto-oncogene to oncogene mutations can be thought of as ‘autosomal recessive’.

A

False.

Proto-oncogene to oncogene mutations can be thought of as ‘autosomal dominant’.

(Only one hit needed)

65
Q

Do most inherited syndromes that increase risk of cancer development involve tumor suppressor genes or oncogenes?

A

Tumor suppressor genes

(two hits needed)

66
Q

True/False.

Oncogenes usually have tissue ‘preferences’.

(I.e. a predilection for occurring in certain tissues)

A

False.

Tumor suppressor genes usually have tissue ‘preferences’.

(less common in oncogenes)

67
Q

Defects in which gene(s) is(are) associated with hereditary non-polyposis colon cancer (Lynch syndrome)?

A

MLH1 and MSH2

(mismatch repair genes)

68
Q

Defects in which gene(s) is(are) associated with Li Fraumeni syndrome?

A

P53

69
Q

In addition to point mutations or chromosomal rearrangement, what other mutation might lead to oncogene formation?

A

Amplification;

70
Q

What is the normal function of the Ras protein?

A

It is a GTPase and effector molecule that promotes cell growth

71
Q

The Ras protein is active and _______ cell growth when bound to _______.

A

The Ras protein is active and stimulates cell growth when bound to GTP.

72
Q

What is the most common mutation type (e.g. point, amplification, deletion, translocation, etc.) in tumorigenesis?

A

Point mutations (single bases substitutions)

73
Q

True/False.

The term ‘oncogenes’ refers to a relatively narrow category of proto-oncogenes that increase cell growth by increasing production of growth factors.

A

False.

Oncogenes are a broad category of overexpression/overactivity of any of the following:

Growth factors

Growth factor receptors

Signal transducers

Transcription factors

74
Q

Name the generic components of the cell proliferation pathway starting with a growth factor.

A

Growth factors –>

Growth factor receptors –>

Signal transducers –>

Transcription factors

75
Q

What enzyme type increases Ras activation?

What enzyme type decreases Ras activation?

A

GEFs

(guanine nucleotide exchange factors);

GAPs

(GTPase-activating proteins)

76
Q

The N-Myc gene is responsible for synthesizing what?

A

The N-Myc transcription factor

77
Q

In addition to the mutations that produce oncogenes (point mutations, translocations, deletions, amplifications etc.), what other mutation type is associated with the inactivation of tumor suppressor genes?

A

DNA methylation

78
Q

Name a few examples of the general types of products made by tumor suppressor genes.

A
79
Q

What is the NF-1 protein?

A

A GAP

(a GTPase-activating protein that acts to inhibit cell proliferation)

80
Q

What is the APC protein?

A

A protein that normally inhibits signal transduction

(inhibiting cellular proliferation)

81
Q

What is the Rb protein?

A

A protein that binds E2 F proteins to inhibit progression from G1 to S

82
Q

What are the two normal functions of the p53 protein?

A
  1. Inhibiting cell growth
  2. Inducing BAX (pro-apoptotic)
83
Q

What is the normal function of the p16 protein?

A

Rb protein hypophosphorylation

(thus Rb binds E2 F, pausing the cell cycle at G1)

(Technically, it inhibits the cyclin-dependent kinase complex that phosphorylates Rb.)

84
Q

What is the normal purpose of the ATM gene?

A

DNA repair

85
Q

The product of what gene activates p53 in response to double-stranded breaks in DNA?

(thus, signalling for p53’s pro-apoptotic effects)

A

ATM

(This is in addition to its function as a DNA repair gene.)

86
Q

What is the gene that is most commonly mutated in associated with tumor development?

A

p53

87
Q

_______ age of onset of malignancy is a potential indicator for a hereditary cancer syndrome.

A

Early age of onset of malignancy is a potential indicator for a hereditary cancer syndrome.

88
Q

True/False.

Multiple primary tumors and/or bilateral organ development are potential indicators for a hereditary cancer syndrome.

A

True.

89
Q

The _________ model of cancer heritability pertains to an inherited mutation that follows an autosomal recessive pattern (two-hit hypothesis).

(E.g. retinoblastoma is more common in individuals born with an Rb1 gene mutation, but they still need one more mutation of the alternate allele.)

A

The Knudson model of cancer heritability pertains to an inherited mutation that follows an autosomal recessive pattern (two-hit hypothesis).

(E.g. retinoblastoma is more common in individuals born with an Rb1 gene mutation, but they still need one more mutation of the alternate allele.)

90
Q

Describe how the Knudson model relates to disorders such as retinoblastoma.

A

Retinoblastoma is more common in individuals born with an Rb1 gene mutation, but they still need one more mutation of the alternate allele

91
Q

What does it mean if cancer cases are said to be ‘familial’?

A

A clustering of cancer (usually the same type) in a family

(NOTE: not necessarily heritable — due to multifactorial causes)

92
Q

_________ cancers — not related to a family history and no known inherited component.

A

Sporadic cancers — not related to a family history and no known inherited component.

93
Q

________ — clustering of cancer (usually the same type) in a family.

A

Familial — clustering of cancer (usually the same type) in a family.

94
Q

________ — germline (constitutional) mutation in a single gene leads to a greatly increased risk of cancer

A

Hereditary — germline (constitutional) mutation in a single gene leads to a greatly increased risk of cancer

95
Q

Fill in the blanks for indicators of hereditary cancer syndromes:

_______ age of onset (premenopausal breast cancer for example)

Several ________ with the same or related cancers

Excess of _____focal or ___lateral tumors

Excess of multiple _________ tumors

Autosomal __________ inheritance (usually)

A

Fill in the blanks for indicators of hereditary cancer syndromes:

Early age of onset (premenopausal breast cancer for example)

Several relatives with the same or related cancers

Excess of multifocal or bilateral tumors

Excess of multiple primary tumors

Autosomal dominant inheritance (usually)

96
Q

True/False.

Screening for genes associated with certain cancers and heritable syndromes (e.g. BRCA1) is a way of indicating a person’s susceptibility and overall lifetime risk.

A

True.

97
Q

Familial adenomatous polyposis is caused by a mutation in the ___ gene on chromosome ___.

A

Familial adenomatous polyposis is caused by a mutation in the APC gene on chromosome 5q.

98
Q

What are the two main causes of hereditary colon cancer?

A

Lynch syndrome (HNPCC);

familial adenomatous polyposis

99
Q

How is familial adenomatous polyposis typically diagnosed?

A

Colonoscopy

(100+ and even thousands of polyps by a very early age)

100
Q

How is familial adenomatous polyposis treated?

What is the patient’s risk of colon cancer development if not treated?

A

Surgical resection of the colon;

100%

101
Q

True/False.

Radiotherapy is contraindicated in individuals with an Rb mutation.

A

True.

Radiotherapy drastically increases their likelihood of cancer development.

102
Q

What is the inheritance pattern for Lynch syndrome (HNPCC)?

A

Autosomal dominant

103
Q

What is the range for the lifetime risk for colon cancer in patients with Lynch syndrome (HNPCC)?

And endometrial cancer?

A

50 - 80%;

25 - 60%

104
Q

True/False.

Patients with Lynch syndrome (HNPCC) will almost certainly develop colon cancer later in life.

A

False.

HNPCC is associated with earlier onset (40s), but not all patients develop colon cancer.

105
Q

Lynch syndrome (HNPCC) is most associated with mutations in what gene(s)?

A

MSH2 and MLH1

106
Q

Via what two methods can a diagnosis of Lynch syndrome (HNPCC) be confirmed?

A
  1. Microsatellite instability tests
  2. Immunohistochemistry
107
Q

What inheritance pattern does Lynch syndrome (HNPCC) show?

A

Autosomal dominant

108
Q

What are the two main cancers associated with Lynch syndrome (HNPCC)?

Are there others?

A

Colon, endometrial;

yes (e.g. stomach, ovarian, urinary tract, billiary tract)

109
Q

Wilm’s tumor is a rapidly growing neoplasm of the kidney.

What is the normal function of the WT1 gene on chromosome 11?

A

Tumor suppression

110
Q

True/False.

The general lifetime cancer risk in individuals with Li Fraumeni syndrome is 50% by age 30 and 90% by age 60.

A

True.

111
Q

A mutation in what gene causes Cowden syndrome?

A

PTEN

112
Q

What syndrome predisposes individuals to tumors of the thyroid, breast, endometrium, adipose, and kidneys, as well as facial papules, papillomatous papules, hamartomas, and macrocephaly?

A

Cowden syndrome

(PTEN deletion)

113
Q

Name some of the tumors associated with Von Hippel-Lindau syndrome.

A

Hemangioblastoma (brain, spinal cord, retina);

renal cell carcinoma;

pheochromocytoma

114
Q

True/False.

Most cancer syndromes (e.g. Von Hippel-Lindau; Cowden’s; etc.) are asymptomatic until both alleles are mutated (two hits).

A

False.

Non-tumorigenic S/Sy are often present after a single mutation (e.g. macrocephaly, cutaneous lesions, etc.). Tumors typically only arise after two mutations.

115
Q

What syndrome is characterized by mucocutaneous hyperpigmentation and multiple intestinal hamartomous polyps?.

A

Peutz-Jeghers syndrome

116
Q

Peutz-Jeghers syndrome shows what inheritance pattern?

A

Autosomal dominant

117
Q

What gene mutation is associated with Peutz-Jeghers syndrome?

A

STK11

118
Q

A patient presents with macrocephaly, jaw cysts, and mutliple basal cell carcinomas. You note these basal cell carcinomas are in sun-exposed and non-sunexposed locations.

What syndrome do you suspect?

A

Basal cell nevus (Gorlin) syndrome

119
Q

What gene is associated with basal cell nevus syndrome?

A

PTCH

120
Q

What genes are associated with hereditary melanoma?

A

CDKN2A; CDK4

121
Q

What type of gene is the RET gene?

A

A proto-oncogene

122
Q

What is the main prophylactic treatment for a patient with a RET mutation?

A

Thyroidectomy

(e.g. in MEN 2a/b)

123
Q

Ataxia telangiectasia results from a mutation in what type of gene?

A

DNA repair

(ATM gene)

124
Q

True/False.

Oster-Weber-Rendu syndrome is another name for ataxia telangiectasia.

A

False.

Oster-Weber-Rendu syndrome is another name for hereditary hemorrhagic telangiectasia.

125
Q

Why is ataxia seen in ataxia telangiectasia?

Where are the telangiectasias in this disorder typically prominent?

A

Cerebellar dysfunction;

the eyes

126
Q

What is the inheritance pattern of ataxia telangiectasia?

A

Autosomal recessive

127
Q

Name a few syndromes with an increased risk of malignancy that result due to deficient DNA repair mechanisms.

XAB

A

Xeroderma pigmentosum;

ataxia telangiectasia;

Bloom syndrome

128
Q

What might be indicated by a patient with bilateral tumor formation?

A

A hereditary cancer syndrome

T1 - Phase 2 - Systems Modules (I) (27 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions