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MCB II Block 1 > Cancer 3 > Flashcards

Cancer 3 Flashcards

1
Q

Can Burkitt lymphoma be inherited?

A

No - sporadic mutation otherwise would not be compatible with life

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2
Q

What is happening to MYC gene in Burkitt lymphoma?

A

overexpressed (w.t.)

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3
Q

Original B cell that aquired translocation does what in burkitt lymphoma

A

overexpressed, rapidly prliferates

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4
Q

What chromosomes have translocation for burkitt lymphoma

A

8 & 14

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5
Q

MAR stands for

A

marker chromosome

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6
Q

What cell type is burkitt lymphoma

A

B lymphocyte

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7
Q

What are two types of burkitt lymphoma

A

african BL

non-endemic

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8
Q

What type of burkitt lymphoma is usually found in US

A

Non-endemic

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9
Q

30% of non-hodkins lymphoma in US is what

A

burkitt lymphoma

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10
Q

How does african bl present

A

in mandible

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11
Q

how does non-endemic lymphoma presntn

A

ileocaecal or peritoneal mass

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12
Q

Where is translocation for follicular lymphoma

A

14 & 18

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13
Q

What is overexpressed in follicular lymphoma

A

Bcl-2 (w.t.)

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14
Q

What kind of protein is Bcl-2

A

anti-apoptotic protein

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15
Q

What cells affected in follicular lymphoma

A

follicle center B cells

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16
Q

CML stands for

A

chronic myelogenous leukemia

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17
Q

chrom. most often associated with chronic myeloid leukemia?

A

9 & 22

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18
Q

What is found on chromosome 9 affected on

A

ABL gene

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19
Q

ABL

A

intracellular kinase involved in signaling pathways that stimulate cell proliferation

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20
Q

On chrom 22?

A

BCR gene

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21
Q

What is result of t(9;22)

A

BCR-ABL fusion protein - always on, constantly signaling for cell proliferation

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22
Q

what is gene fusion product (philadelphia chromosome)

A

BCR-ABL

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23
Q

chronic myeloid leukemia - where was translocation aquired

A

cell that aquired translocation is somehwere down lineage

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24
Q

acute lymphoblastic leukemia - where was translocation aquired

A

cell down lympohid lieage aquired translocation

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25
Q

Describe the chronic phase of CML

A

intermediate phase, not as long survival

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26
Q

what does CML stand for

A

chronic myeloid leukemia

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27
Q

how long can pts be in chronic phase of CML

A

many years )3 or even 10-15

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28
Q

what stage is after chronic phase of CML?

A

blast phase/crisis

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29
Q

describe blast phase/crisis of CML

A

resembles acute, very very rapid progression. increased cytogenetic rearrangement (more chrom. abnormalities)

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30
Q

how do you treat for blast phase

A

try to get back to chronic phase, treatment usually unsuccessful

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31
Q

what drug has been very successful in treating CML

A

imatinib (generic)/Gleevec

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32
Q

any drug that ends in “inib” is what

A

small moelcule tyrosine kinase inhibitor

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33
Q

what does imatinib do

A

inhibits Bcr-abl tyrosin kinase domain

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34
Q

which cells express bcr-abl protein?

A

only the cancer cells. so only cancer cells are affected

the other cells have w.t. abl and are not affected

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35
Q

why is there chance of relap for pts who have been cured by imatinib?

A

the cancer cells are constantly mutating - they could mutate so that the drug doesn’t work anymore and they can become resistant to the drug

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36
Q

What is presentation of CML

A

anemia, massive splenomegaly

bruising & bleeding (tiredness, decreased weight, fever, sweats)

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37
Q

anemia, massive splenomegaly

bruising & bleeding (tiredness, decreased weight, fever, sweats) is what?

A

CML

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38
Q

what percentage of leukemia is CML

A

15%

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39
Q

how is fusino protein causing cancer

A

constituteive activation of tyrosine kinase that is driving excessive prlilferation

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40
Q

what does APL stand for

A

acute promyelcytic leukemia

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41
Q

wat type AML is APL

A

AML M3

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42
Q

where is translocation of APL

A

t(15;17)

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43
Q

what is fusion result of APL

A

PML-RARα

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44
Q

RARα

A

retinoac acid receptor alpha

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45
Q

RARα is normally involved in what

A

WBC differentiation

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46
Q

PML is normally

A

TF, blocks proliferation & induces apoptosis

tumor supressor

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47
Q

when PML-RARα are fused together, fusion protein is

A

oncogenic

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48
Q

describe how PML-RARα is oncogenic

A

blocks differentiation needed for myeloid differentiation and promotes cell proliferation

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49
Q

Where is translocation in ewing sarcoma

A

t(11;22)

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50
Q

what genes fused in ewing

A

EWS-FLI1

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51
Q

FLI1 is what

A

TF

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52
Q

ewing sarcoma affects what ender more

A

males

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53
Q

what is age of onset for ewing sarcoma

A

10-20 years

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54
Q

what is presentation of ewing sarcoma

A 
flat bones of pelvis 
diaphyses of long tubular bones
(femur, tibia, humerus)
Pain & swelling over tumour
Fever, Weight loss
Anaemia, Fatigue
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55
Q

how many cases are metastatic at presentation in ewing sarcoma

A

30%

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56
Q

what 3 translocations is there production of fusion protein

A

CML
ewing saroma
acute promyelocytic leukemia

57
Q

tnovel product of translocation results in what

A

promotes cell proliferation in same manner as an oncogene.

58
Q

how can amplification activate an oncogene

A

gene becomes amplified in genome hundreds of times

should only have 1!

59
Q

N-MYC is amplified in what disease

A

neuroblastomas

60
Q

N-MYC amplilfication is used as what

A

prognostic factor - determines how you’ll treat

61
Q

MYC is family of

A

TFs

62
Q

MYC is found amplified in what

A

many cancers!

she is using N-MYC neuroblastoma

63
Q

N-MYC amplification results in

A

neuroendocrine tumour

64
Q

N-MYC amplification is most common in

A

children

65
Q

what is presentation of N-MYC/neuroblastoma?

A

50% <2yo

Mass in adrenals, pelvis, neck, chest, abdomen

66
Q

why would you not want to give child chemotherapy lightly

A

putting them at greater risk for future mutations due to chemicals

67
Q

why is N-MYC helpful as diagnostic

A

shows child has poor diagnostic and might want to use more extreme measures

68
Q

amplified N-myc gene sequence can be found where?

A

at original locus on chrom. 22 or on another chromosome that it inserted into

69
Q

HSR stand for?

A

homogenous staining region

70
Q

When there is amplified myc on chromosme what is it called

A

HSR

71
Q

what are double minutes?

A

extra chromosome pieces full of Myc gene sequence. they are not actually in the chromosome

72
Q

HSR

A

stain for MYC - can see pic on pg 92

73
Q

if there is overexpression of MYC what protein will there be overexpression of

A

cyciln D

74
Q

in order to lose tumor suppressor gene, have to lose

A

both alleles via loss of function

75
Q

gatekeeper control what

A

control passage through cell cycle

control checkpoint

76
Q

caretakers job

A

repair DNA damage, take care of genome

77
Q

explain knudson’s 2 hit hypothesis

A

need 2 mutations. can see on pg 96

78
Q

pts who have inherited cancer syndromes due to tumor supressor gene, what do they inherit

A

one loss of function mutation in tumor suppressor

79
Q

in order for pts to develop cancer with a tumor supressor gene (if they have inherited one mutated tumor supresor gene)

A

need sporadic event so the other allele is mutated and loses function

80
Q

hereditary retinoblastoma - how does pt develop cancer so easily

A

all their cells already have one “hit” so all it takes is another mutation in other allele, much more likely for them to have a hit on both and develop tumor

81
Q

why is retinoblastoma childhood tumor

A

retinoblast are particuarilly susceptible b/c during early stage in childhood that they are replicating very rapidly, greater chance for mutations

82
Q

inherited cases of tumor suppressor genes are inherited in what manner & why?

A

AD

probability the cell will get second hit is very likely - they also usually have multiple tumors

83
Q

in both inherited and sporadic cancer cases, the second hit is

A

somatic

84
Q

mechanisms for losing tumor suppressor gene - list 6

A

nondisjunction - one chrom. lost
chromosome lost then the mutated chrom duplicated
mitotic recombination
gene conversion (just gene is replaced_
deletion - so hemizygous for mutated allele
point mutation

85
Q

what does LOH stand for

A

loss of heterozygosity

86
Q

what does LOH mean

A

refers to second hit, lose heterozygosity and cell becomes homozygous or hemizygous (loss of w.t.) for mutated allele

87
Q

epigentic cases of 2nd hit, explain

A

tumor suppressor gene doesn’t have a problem it is w.t.
so it’s normal but it is silenced b/c it is packaged into heterochromatin
hypermethylation of promoter region
changes in miRNA expression

88
Q

what are the three ways epigenetics can silence tumor supressor

A

heterochromatin
hypermethylation
miRNA expression (downregulation)

89
Q

miRNA - what are they complementary to?

A

complementary sequences to messenger RNA

90
Q

miRNA - what can it be used for regarding epigenetics?

A

another way of controllingn gene transcription

91
Q

miRNA - explain how they work

A

bind to target, associated with protein complex. binding of miRNA to messenger RNA results in degradation of messenger RNA

92
Q

miRNA - what do they regulate?

A

they downregulate expression of messenger RNA

93
Q

in cancer what happens with miRNA

A

overexpression of miRNA that target tumor supressor gene

94
Q

oncomere

A

oncogenic change of overexpression of miRNA that downregulates expression of tumor supressor genes
miRNA that target tumor supressor gene

95
Q

explain how miRNA is increased/decreased in cancer

A

increase in miRNA that target tumor supressor

decrease in miRNA that target oncogenes

96
Q

what does TSG stand for

A

tumor suppressor gene

97
Q

in glioblastoma how much is miRNA expressed

A

100x expression

98
Q

what is glioblastoma

A

most common and very aggressive brain tumor

99
Q

Progressive memory, personality, or neurological deficit (temporal & frontal lobe involvement)
Seizure, Headache, nausea & vomiting, hemiparesis
are symptoms of what

A

glioblastoma

100
Q

What is treatment for glioblastoma?

A

palliative

101
Q

when you talk about AR and AD in inherited cancer genetics what does it mean

A

how it shows up in pedigree

102
Q

multiple tumors
bilateral
early onset
is what?

A

mendialian inheritance of mutation in cancer - germinline mutation

103
Q

in all AD inherited cancer pts, the pt inherits what

A

inherits one loss of function mutation

104
Q

List AD inherited cancer syndromes

A 
Retinoblastoma
Li-Fraumeni syndrome
Neurofibromatosis type 1
Hereditary breast cancer
Familial polyposis coli (FAP)
Hereditary non polyposis colon carcinoma (HNPCC)
105
Q

retinoblastoma is what

A

rare malignant tumor of retina

106
Q

how much of retinoblastoma are inherited

A

40%

107
Q

what does it mean that 40% of retinoblastoma is niherited

A

1 inherited mutation

1 sporadic mutation

108
Q

how is retinoblastoma inherited

A

AD

109
Q

what percentage of retinoblastoma is sporadic

A

60%

110
Q

if you know pt has on ehit, carries Rb1 mutation, what must happen

A

watch very closely for tumors

111
Q

when do sporadic vs. inherited retinoblastoma cases occur

A

sporadic later in childhood. don’t need to follow up as often as inherited

112
Q

infants that survive hereditary retinoblastoma have how much of a risk to develop other cancer

A

400x

even higher if they were exposed to readiotherapy to treat retinoblastoma

113
Q

draw out pathway that starts with external signal → RAS

A

pg 108

114
Q

in retinoblastoma, what happens to the signaling pathway that checkpoints G1 to S

A

there is no Rb so the tumor expressor is not expressed at all, so E2F is always on and constantly stimulates cell proliferation

115
Q

Draw out Rb in resting and proliferating cell

A

pg 108

116
Q

where is mutation in Li-Fraumeni syndrome

A

p53 mutation ( 1 allele)

117
Q

how is Li-Fraumeni inherited

A

AD

118
Q

pts are at risk for developing what cancer in Li-Fraumeni

A

many cancer

bone, soft tissue sarcomas, breast cancer, brain tumor, leukemia

119
Q

are sarcomas rare?

A

yes

in Li-Fraumeni it is likely to occur

120
Q

what dictates what type of cancer pts with Li-Fraumeni will have

A

where second hit occurs

121
Q

p53 is most commonly

A

mutated gene in cancer

122
Q

what is p53

A

tumor supressor

123
Q

what are 3 important functions of p53

A

stop cell cycle
repair of genome
kill cell (trigger apoptosis) if DNA damage can’t be repaired

124
Q

What is p53

A

TF

125
Q

do cells always express p53?

A

yes - it is always being made

126
Q

what happens to p53 if it is not needed

A

degraded by MDM2

127
Q

if there is DNA damage, what happens to p53

A

phosphorylated by kinases

128
Q

what is p53’s first target

A

p21 (it transcrives it

129
Q

what does p21 do

A

block cyclin complexes (any cyclin/CDk complexes in cell cycle)

130
Q

if DNA damage isn’t repaired, what does p53 do

A

levels accumulate, when there are high levels of p53 it transcribes pro-apoptotic genes and cell will die by apoptosis

131
Q

senescence

A

telomeric repeats determine how much cell can replicate. once they reach threshold they can’t replicate again

132
Q

p53 and senescence

A

detects short telomeres and blocks it from going into cell cycle

133
Q

what doe NF1 stand for

A

Neurofibromatosis type I

134
Q

what is inheritance of Neurofibromatosis type I

A

AD

135
Q

what is penetrance of Neurofibromatosis type I

A

100%

all pts present with symptoms - signs of condition including benign tumors

136
Q

by what age will pts show symptoms of Neurofibromatosis type I

A

5

137
Q

what are symptosm of Neurofibromatosis type I

A

Cutaneous pigmentation
Café au lait spots (nearly all cases)
Freckles (90%)
Lisch nodules (pigmented iris nodules; hamartomas): nearly all cases
Multiple benign neurofibromas (schwaan cell tumours; PNS)

138
Q

What are example gatekeepers

A

p53
Rb
Nf1

139
Q

What are examples of caretakers

A

BRCA1

BRCA2

MCB II Block 1 (12 decks)

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