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STEP1 > Neoplasia > Flashcards

Neoplasia Flashcards

1
Q

Historically, how was clonality of a neoplasm established?

A
  • by identifying G6PD isoform expression
  • there are multiple isoforms but only one is inherited from each parent
  • it is an X-linked gene, so in females, one is randomly inactivated in each cell, resulting in a normal ratio of 1:1 between the two inherited forms
  • this 1:1 ratio is maintained in hyperplasia but only one isoform is present in a neoplasm
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2
Q

What is the normal kappa to lambda light chain ratio? What ratio is indicative of a monoclonal B cell proliferation?

A
  • normally k:l is 3:1

- a ratio greater than 6:1 suggests monoclonality

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3
Q

What is a carcinoma?

A

a tumor of epithelial origin

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4
Q

What are the three leading causes of death among adults and children?

A
  • adults: CV disease then cancer and then chronic respiratory disease
  • children: accidents then cancer and then congenital defects
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5
Q

Approximately ___ divisions occur before the earliest clinical symptoms of a tumor arise.

A

30 divisions

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6
Q

Why do cancers that are detected late tend to have a poor prognosis?

A

because cancers that do not produce symptoms until late in the disease will have undergone additional divisions and hence have additional mutations

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7
Q

In which organs, is late detection of cancer most likely?

A

those with a large reserve capacity (i.e. the lung)

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8
Q

What are oncogenes?

A

proto-oncogenes, which now in their mutated state, promote unregulated cellular growth

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9
Q

What kinds of gene products do proto-oncogenes typically encode?

A
  • growth factors and their receptors
  • signal transducers
  • nuclear regulators
  • cell cycle regulators
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10
Q

What sort of Ras mutation leads to malignancy?

A
  • Ras is associated with growth factor receptors in an inactive, GDP-bound state
  • receptor binding causes GDP to be replaced by GTP, activating Ras
  • Ras sends growth signals to the nucleus
  • Ras then inactivates itself by cleaving GTP to GDP, a process that is augmented by GTPase activating protein
  • however, if Ras becomes mutated, this inhibits the activity of the GTPase activating protein, prolonging the activated state of Ras
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11
Q

What are the two classic tumor suppressor genes?

A
  • Retinoblastoma

- p53

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12
Q

What is the physiologic role of p53? How does it end up promoting oncogenesis?

A
  • in response to DNA damage, it slows the cell cycle (at the G1/S transition) by activating p21, a kinase that inactivates various cyclin/CDK complexes, and upregulates DNA repair enzymes
  • if the DNA cannot be repaired, it up regulates BAX, which disrupts Bcl2, inducing apoptosis
  • if both copies are knocked out, then DNA damage is ignored, not repaired, and cell cycle progression continues
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13
Q

What is Li-Fraumeni syndrome? What causes it? How does it manifest?

A
  • a gremlin mutation in p53 (first hit)
  • this makes oncogenesis far more likely because then it only takes one somatic knockout of p53 (second hit)
  • characterized by a propensity to develop multiple types of carcinomas and sarcomas
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14
Q

What is the physiologic role of Rb? How does it contribute to oncogenesis?

A
  • it holds the E2F transcription factor, which is necessary for transition to the S phase
  • when Rb is phosphorylated by the cyclinD1/CDK4 complex, E2F is released and the cell progresses through the cell cycle
  • if both genes are knocked out, E2F is constitutively free and cell cycle progression is unregulated
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15
Q

Generally speaking, how many copies of an oncogene need to be affected for cancer to occur? What about tumor suppressor genes?

A
  • oncogenes: just one mutated gene copy will suffice

- tumor suppressor genes: both copies usually need to be affected

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16
Q

What is familial retinoblastoma?

A
  • a germline mutation in Rb (first hit) means only one somatic mutation (second hit) is required for oncogenesis
  • characterized by bilateral retinoblastoma and osteosarcoma
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17
Q

Sporadic Rb mutations manifest as what sort of neoplasm?

A

unilateral retinoblastoma

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18
Q

What is telomerase? What is it’s role in oncogenesis?

A
  • telomeres shorten with serial cell divisions, eventually resulting in cellular senescence
  • tumor cells often up regulate telomerase, which preserves telomeres and allows for continued cell growth
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19
Q

Tumor cells often produce what angiogenic factors?

A

FGF and VEGF

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20
Q

Describe the process whereby neoplastic cells invade and spread.

A
  • epithelial tumors are normally attached to one another by cellular adhesion molecules
  • so they begin by down regulating these molecules, like E-cadherin, leading to dissociation
  • the cells then attach to laminin and destroy the basement membrane using collagenase
  • the cell attach to fibronectin in the ECM and spread locally
  • eventually if they are able to enter the vasculature or lymphatics, they can metastasize
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21
Q

Describe three routes of metastasis and which tumors typically utilize each.

A
  • carcinomas tend to spread by lymphatics
  • hematogenous spread is characteristic of sarcomas and some carcinomas (RCC, HCC, follicular carcinoma of the thyroid, choriocarcinoma)
  • ovarian carcinoma utilizes seeding of body cavities
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22
Q

What is omental caking?

A

a feature of ovarian carcinoma, a cancer which tends to metastasize by seeding the peritoneum, and as the tumor grows, it tends to fill the peritoneum forming this feature

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23
Q

Which is a more important prognostic factor, grading or staging?

A

staging

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24
Q

What is grading of a cancer?

A

microscopic assessment of differentiation taking into account architectural and nuclear features

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25
Q

What is TNM staging? Which aspect of it is most important for prognosis?

A
  • T: tumor size and depth of invasion
  • N: spread to regional lymph nodes
  • M: metastasis (most important for prognosis)
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26
Q

Define anaplasia.

A

a complete lack of differentiation of cells in a malignant neoplasm

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27
Q

What is the “seed and soil” theory of metastasis?

A
  • a tumor embolus acts as the seed

- the location of metastasis depends on the characteristics of the target tissue (aka soil)

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28
Q

What is a hamartoma?

A

a benign malformation of disorganized overgrowth of tissues in their native location

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29
Q

What is a choristoma? Give an example.

A
  • a term used to describe a benign malformation consisting of normal tissue in a foreign location
  • gastric tissue located in the distal ileum in Meckel diverticulum
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30
Q

What terms are used to describe a benign or malignant tumor of the following cell types:

  • smooth muscle
  • striated muscle
  • connective tissue
  • melanocyte
A
  • smooth muscle: leiomyoma and leiomyosarcoma
  • striated muscle: rhabdomyoma and rhabdomyosarcoma
  • connective tissue: fibroma and fibrosarcoma
  • melanocyte: nevus/mole and melanoma
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31
Q

What are the three most common cancers? Which three cancers contribute the most mortality?

A
  • incidence: prostate/breast > lung > colorectal

- mortality: lung > prostate/breast > colorectal

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32
Q

What is the current trend among the two genders with regards to lung cancer incidence?

A
  • decreasing incidence for men

- no change for women

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33
Q

What are psammoma bodies? Where are they found?

A
  • laminated, concentric spherules with dystrophic calcification
  • seen in papillary carcinoma of thyroid, serous papillary cystadenocarcinoma of ovary, meningioma, and malignant mesothelioma (PSaMMoma body)
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34
Q

For what tumors is alkaline phosphatase a relevant serum marker?

A
  • mets to bone or liver
  • Paget disease of bon
  • seminoma
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35
Q

How is a-fetoprotein used as a tumor serum marker?

A
  • HCC
  • hepatoblastoma
  • yolk sac tumor
  • mixed germ cell tumor
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36
Q

In addition to it’s role as a tumor serum marker, what congenital defects are a-fetoprotein levels used to detect?

A
  • high levels associated with neural tube and abdominal wall defects
  • low levels associated with Down syndrome
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37
Q

For what tumors is B-hCG a relevant serum marker?

A

hydatidiform moles and choriocarcinomas

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38
Q

For what tumors is CA15-3/CA 27-29 a relevant serum marker?

A

breast cancer

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39
Q

For what tumors is CA 19-9 a relevant serum marker?

A

Pancreatic adenocarcinoma

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40
Q

For what tumors is CA 125 a relevant serum marker?

A

Ovarian cancer

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41
Q

For what tumors is calcitonin a relevant serum marker?

A

medullary thyroid carcinoma

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42
Q

For what tumors is CEA a relevant serum marker?

A

very nonspecific but very sensitive for colorectal and pancreatic cancers

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43
Q

In addition to cancer, what conditions can elevate PSA?

A
  • prostatitis

- BPH

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44
Q

What is P-glycoprotein? Which tumor type classically expresses it?

A
  • aka MDR1, it is used by cancer cells to pump toxins out of cells
  • classically expressed by adrenal cell carcinoma
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45
Q

What is cachexia? How does it present? What mediates it?

A
  • a state of weight loss, muscle atrophy, and fatigue that occur in states of chronic disease
  • mediated by TNF, IFNy, IL-1, and IL-6
46
Q

Metastasis to the brain is most likely from which primary tumor sites?

A

lung > breast > prostate > melanoma > GI

47
Q

Metastasis to the liver is most likely from which primary tumor sites?

A

colon&raquo_space; stomach > pancreas

48
Q

Metastasis to the bone is most likely from which primary tumor sites? Which of these form lytic and which form plastic lesions?

A
  • prostate, breast > lung, thyroid, kidney
  • prostate and breast tend to be blastic
  • lung, kidney, and thyroid tend to be lytic
49
Q

What is naphthylamine?

A

a derivative of cigarette smoke associated with urothelial carcinoma of the bladder

50
Q

Alcohol is a risk factor for which cancers?

A
  • squamous cell carcinoma of the oropharynx and upper esophagus
  • hepatocellular carcinoma
  • chronic pancreatitis and pancreatic cancer
51
Q

What role do nickel, chromium, beryllium, and silica play as carcinogens?

A

they are all possible occupational exposures associated with lung cancer

52
Q

How is ionizing radiation a carcinogen? With which cancers is it associated?

A
  • it generates hydroxyl free radicals from water in tissue

- it is associated with AML, CML, and papillary carcinoma of the thyroid

53
Q

How is non-ionizing radiation a carcinogen? With which cancers is it associated?

A
  • results in the formation of pyrimidine dimers in DNA

- associated with skin cancer (basal cell, squamous cell, and melanoma)

54
Q

What are aflatoxins and where are they found? With which cancer are they associated?

A
  • derived from Aspergillus, they often contaminate stored rice and grains
  • there is a very strong association with hepatocellular carcinoma worldwide
55
Q

Alkylating agents are associated with which cancers?

A

leukemias and lymphomas

56
Q

What is the carcinogenic risk of aromatic amines?

A

transitional cell carcinoma

57
Q

What is the carcinogenic risk associated with arsenic?

A
  • squamous cell carcinoma of teh skin
  • lung cancer
  • liver angiosarcoma
58
Q

What is the carcinogenic risk of asbestos?

A

bronchogenic carcinoma > mesothelioma

59
Q

What is the most common carcinogen worldwide?

A

cigarette smoke

60
Q

What is the most carcinogenic component of cigarette smoke?

A

polycyclic hydrocarbons

61
Q

Cigarette smoke is a carcinogen with risks for what cancers?

A
  • transitional cell carcinoma of the bladder
  • squamous cell carcinoma of the esophagus, larynx, and lung
  • renal cell carcinoma
  • small cell carcinoma of the lung
  • pancreatic adenocarcinoma
62
Q

What are nitrosamines? Where are they found? What do they cause? Where are they most prevalent?

A
  • they are compounds found in smoked foods
  • they pose a risk for stomach cancer
  • they are responsible for the high rate of stomach carcinoma in japan
63
Q

What is the second leading cause of lung cancer after cigarette smoke?

A

the carcinogen radon

64
Q

What is the carcinogenic effect of vinyl chloride? Where is it found?

A
  • is is an occupational exposure used in the making of PVC pipes
  • it is well studied and highly tested with a link to angiosarcoma of the liver
65
Q

Describe the effect of carbon tetrachloride as a carcinogen.

A

it causes centrilobular necrosis and fatty change of the liver

66
Q

What is acanthosis nigricans and with which diseases is it commonly associated with?

A
  • hyperpigmented, velvety plaques in the axilla and on the neck
  • associated with gastric adenocarcinoma (but more so with obesity and insulin resistance)
67
Q

What is a Leser-Trelat signs and for which cancers is it a commonly associated neoplastic syndrome?

A
  • it is the sudden onset of multiple seborrheic keratoses

- it is most associated with GI adenocarcinomas

68
Q

Describe hypercalcemia as a paraneoplastic syndrome include mechanism and associated cancers.

A
  • PTHrP is the mechanism associated with squamous cell carcinomas of the lung, head, and neck as well as renal, bladder, breast, and ovarian carcinomas
  • elevated calcitriol is the mechanism associated with lymphoma
69
Q

Which cancer is most strongly associated with the paraneoplastic syndrome of Cushing syndrome?

A

small cell lung cancer via elevated ACTH

70
Q

Which cancer is most strongly associated with the paraneoplastic syndrome of SIADH?

A

small cell lung cancer via elevated ADH

71
Q

Which cancers are most strongly associated with the paraneoplastic syndrome of polycythemia? What is the mechanism?

A
  • RCC, HCC, hemangiobalstoma, pheochromocytoma, and leiomyoma
  • via elevated EPO
72
Q

Which cancer is most strongly associated with the paraneoplastic syndrome of pure red cell aplasia and what is it?

A

an anemia with low reticulocyte count associated with thymoma

73
Q

What is Good syndrome and with which cancer is it a strongly associated paraneoplastic syndrome?

A
  • it is a hypogammaglobulinemia

- associated with thymoma

74
Q

What is Trousseau syndrome and with which cancers is it a strongly associated paraneoplastic syndrome?

A
  • it is a migratory superficial thrombophlebitis

- associated with adenocarcinomas, especially pancreatic

75
Q

What is nonbacterial thrombotic (marantic) endocarditis and with which cancers is it a strongly associated paraneoplastic syndrome?

A
  • it is the deposition of sterile platelet thrombi on heart valves
  • associated with adenocarcinomas, especially pancreatic
76
Q

What is anti-NMDA receptor encephalitis and with which cancer is it a strongly associated paraneoplastic syndrome?

A
  • it is a syndrome of psychiatric disturbance, memory deficits, seizures, dyskinesias, autonomic instability, and language dysfunction
  • associated with Ovarian teratoma
77
Q

What is opsoclonus-myoclonus ataxia syndrome and with which cancers is it a strongly associated paraneoplastic syndrome?

A
  • described as “dancing eyes, dancing feet,” it is a neuromuscular paraneoplastic syndrome
  • associated with neuroblastoma in children or small cell lung cancer in adults
78
Q

What is paraneoplastic cerebellar degeneration and with which cancers is it a strongly associated paraneoplastic syndrome?

A
  • it is cerebellar degeneration due to antibodies against Hu, Yo, and Tr antigens in purkinje cells
  • associated with small cell lung cancer, gynecologic and breast cancers, and Hodgkin lymphoma
79
Q

What is paraneoplastic encephalomyelitis and with which cancers is it a strongly associated paraneoplastic syndrome?

A
  • caused by antibodies against Hu antigens in neurons

- associated with small cell lung cancer

80
Q

What is Lambert-Eaton myasthenic syndrome and with which cancers is it a strongly associated paraneoplastic syndrome?

A
  • it is caused by antibodies against presynaptic Q- and P-type calcium channels at the NMJ
  • associated with small cell lung cancer
81
Q

With which cancers is EBV associated?

A
  • Burkitt lymphoma
  • Hodgkin lymphoma
  • nasopharyngeal carcinoma
  • primary CNS lymphoma in immunocompromised patients
82
Q

With which cancers are HBV and HCV associated?

A
  • hepatocellular carcinoma

- lymphoma

83
Q

With which cancers is HHV-8 associated?

A

Kaposi sarcoma

84
Q

With which cancers is HPV associated?

A

cervical and penile/anal carcinoma as well as head and neck cancer

85
Q

With which cancers is H. pylori associated?

A

gastric adenocarcinoma and MALToma

86
Q

With which cancers is HTLV-1 associated?

A

adult T-cell leukemia/lymphoma

87
Q

With which cancers is liver fluke (aka Clonorchis sinensis) associated?

A

cholangiocarcinoma

88
Q

With which cancers is Schistosoma haematobium associated?

A

squamous cell bladder cancer

89
Q

What is the gene product of ALK and with which neoplasm is a mutation of it strongly associated?

A

it encodes a receptor tyrosine kinase and is associated with lung adenocarcinoma

90
Q

What is the gene product of BCR-ABL and with which neoplasms is a mutation of it strongly associated?

A

it encodes a tyrosine kinase and is associated with CML and ALL

91
Q

What is the gene product of BCL-2 and with which neoplasms is a mutation of it strongly associated?

A

it encodes an antiapoptotic molecule and is associated with follicular and diffuse large B cell lymphomas

92
Q

What is the gene product of BRAF and with which neoplasms is a mutation of it strongly associated?

A

it encodes a serine/threonine kinase and is associated with melanoma and non-Hodgkin lymphoma

93
Q

What is the gene product of c-KIT and with which neoplasm is a mutation of it strongly associated?

A

it encodes a cytokine receptor and is associated with GIST

94
Q

What is the gene product of c-MYC and with which neoplasm is a mutation of it strongly associated?

A

it encodes a transcription factor and is associated with Burkitt lymphoma

95
Q

What is the gene product of HER2/neu and with which neoplasms is a mutation of it strongly associated?

A

it encodes a tyrosine kinase and is associated with breast and gastric carcinomas

96
Q

What is the gene product of JAK2 and with which neoplasms is a mutation of it strongly associated?

A

it encodes a tyrosine kinase and is associated with chronic myeloproliferative disorders

97
Q

What is the gene product of KRAS and with which neoplasms is a mutation of it strongly associated?

A

it encodes a GTPase and is associated with colon, lung, and pancreatic cancer

98
Q

What is the gene product of L1-MYC and with which neoplasm is a mutation of it strongly associated?

A

it encodes a transcription factor and is associated with lung tumors

99
Q

What is the gene product of n-MYC and with which neoplasm is a mutation of it strongly associated?

A

it encodes a transcription factor and is associated with neuroblastoma

100
Q

What is the gene product of RET and with which neoplasms is a mutation of it associated?

A

it encodes a tyrosine kinase and is associated with MEN 2A and 2B (medullary thyroid cancer)

101
Q

What is an APC gene mutation associated with?

A

FAP and colorectal cancer

102
Q

What is the gene product of BRCA1/BRCA2 and with which neoplasms is a mutation of it associated?

A
  • encodes a DNA repair protein

- associated with breast and ovarian cancer

103
Q

What is the gene product of CDKN2A and with which neoplasms is a mutation of it associated?

A
  • encodes p16, which blocks the G1 to S transition

- associated with melanoma and pancreatic cancer

104
Q

What is a DCC gene mutation associated with?

A

a tumor suppressor gene associated with colon cancer

105
Q

What is a DPC4/SMAD4 gene mutation associated with?

A

a tumor suppressor gene associated with pancreatic cancer

106
Q

What is the gene product of MEN1 and with which condition is a mutation of it associated?

A

it encodes renin and is associated with MEN1

107
Q

What is the gene product of NF1 and with which condition is a mutation of it associated?

A

it encodes a Ras GTPase activating protein called neurofibromas and is associated with neurofibromatosis type 1

108
Q

What is the gene product of NF2 and with which condition is a mutation of it associated?

A

it encodes merlin (aka schwannomin) a tumor suppressor protein associated with neurofibromatosis type 2

109
Q

What is a PTEN gene mutation associated with?

A

breast, prostate, and endometrial cancer

110
Q

What is the gene product of TSC1 and with which condition is a mutation of it associated?

A

encodes the hamartin tumor suppressor protein and is associated with tuberous sclerosis

111
Q

What is the gene product of TSC2 and with which condition is a mutation of it associated?

A

encodes the tuberin tumor suppressor protein and is associated with tuberous sclerosis

112
Q

What is the gene product of VHL and with which condition and neoplasm is a mutation of it associated?

A

encodes a protein that inhibits hypoxia inducible factor 1a and is associated with VHL disease and renal cell carcinoma

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