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Scientific Basis of Medicine > The Case Of The Abnormal Mammogram + The Case Of The Unfair Diagnosis > Flashcards

The Case Of The Abnormal Mammogram + The Case Of The Unfair Diagnosis Flashcards

1
Q

example of an inherited oncogene mutation

A

RET mutation

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2
Q

what disease does RET mutation give you

A

multiple endocrine neoplasia type 2

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3
Q

multiple endocrine neoplasia type 2

A

Medullary carcinoma of thyroid, pheochromocytoma, hyperparathyroidism due to parathyroid adenoma

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4
Q

when to suspect MEN2?

A

2 or more endocrine tumours in a person

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5
Q

symptoms of medullary thyroid cancer (3)

A

nodule
hoarseness
dysphagia

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6
Q

Symptoms of phaeochromocytoma (3)

A

anxiety
hypertension
sweating

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7
Q

Symptoms of parathyroid adenoma (4)

A

Hypercalcaemia so abdo cramps, constipation, thirst, weakness

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8
Q

treating medullary thyroid cancer (2)

A

total thyroidectomy

levothyroxine

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9
Q

Treating phaeochromocytoma (2)

A

drugs for BP

unilateral adrenalectomy

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10
Q

screening for MEN2 involves what tests? (6)

A 
calcitonin
TFTs
neck imaging
metanephrines
blood pressure
calcium levels
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11
Q

example of a cancer caused by tumour suppressor gene mutation

A

retinoblastoma

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12
Q

Mutations in retinoblastoma

A

RB1 autosomal dominant mutation
then a 2nd somatic mutation
(2 hit hypothesis)

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13
Q

age of retinoblastoma diagnosis?

A

age of retinoblastoma diagnosis

usually children under 5

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14
Q

sign of retinoblastoma?

A

absence of red reflex

white reflex instead

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15
Q

most common eye tumour?

A

retinoblastoma

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16
Q

prevalence of unilateral vs bilateral retinoblastoma

A

60% unilateral

40% bilateral

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17
Q

Treating Retinoblastoma if found early? (2)

A

cryotherapy

laser eye surgery

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18
Q

treating retinoblastoma if found later? (2)

A

chemotherapy

enucleation

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19
Q

enucleation is…

A

surgical removal of the eyeball

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20
Q

Prevalence of breast cancer?

A

1 in 8 women

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21
Q

prevalence of BRCA mutations in breast cancer?

A

5-10% of breast cancers have these genes

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22
Q

How much does having a BRCA mutation increase your risk of breast cancer

A

goes up to 80% in women

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23
Q

history suggestive of BRCA mutation?

A

several family members with breast or ovarian cancer
diagnosed at younger ages
men with breast cancer in families with lots of women with breast cancer

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24
Q

types of genetic testing?

A

-Diagnostic Testing
-Predictive Testing
can look for specific faulty genes or rarely sequence whole genome

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25
Q

unregulated cell growth that can invade and spread from primary site around the body =

A

Cancer

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26
Q

epithelial cell tumours

A

carcinomas

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27
Q

mesodermal tumour?

A

sarcoma

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28
Q

glandular cell tumours?

A

adenocarcinomas

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29
Q

general risk factors for cancer

A 
radiation
ageing
pollution
radon gas
diseases e.g. COPD
family hx
occupation
asbestos
smoking
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30
Q

causes of lung cancer (5)

A

smoking, passive smoking, air pollution, asbestos, occupational

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31
Q

2 tests for lung cancer

A

bronchoscopy and biopsy

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32
Q

2 types of cancer mutations?

A

germ line

somatic

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33
Q

oncogenes are..

A

genes that can cause cancer by dysregulating cell division

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34
Q

proto-oncogenes are….

A

the corresponding normal cellular genes that are responsible for normal cell growth and division

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35
Q

Tumour suppressor genes

A

Genes in normal cells that suppress uncontrolled cell proliferation, can get loss of function mutations causing cancer

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36
Q

mutation for proto-oncogenes has what dominance?

A

dominant allele

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37
Q

mutation for tumour suppressor has what dominance?

A

recessive allele so need 2

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38
Q

why does ageing increase cancer risk?

A

often need many mutations over time to cause cancer, longer life increases the risk

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39
Q

Hallmarks of Cancer

A 
avoiding destruction
unlimited replication
Evading growth suppressors
tumour promoting inflammation
invasion and metastasis
reprogramming energy metabolism
growth signal autonomy
angiogenesis
Resisting cell death
genomic instability
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40
Q

how do cancer cells avoid immune destruction?

A

how do cancer cells avoid immune destruction?

hide from immune surveillance e.g. by not replicating

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41
Q

Why can cancer cells replicate forever?

A

hold onto telomeres so they don’t shorten

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42
Q

how does angiogenesis help tumours?

A

blood supply needed for growth

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43
Q

why is genomic instability useful for cancers?

A

the more alterations the more likely cancer is

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44
Q

how does cancer evade cell death?

A

doesn’t respond to apoptotic signals

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45
Q

how can cancer cells reprogram energy metabolism?

A

can do glycolysis even if oxygen present

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46
Q

PD-L1 mutation

A

a mutation which helps cancer evade immune system, present in many cancers

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47
Q

EGFR

A

epidermal growth factor receptor, can mutate in some cancers

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48
Q

afatinib is..

A

EGFR inhibitor/tyrosine kinase inhibitor

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49
Q

side effects of afatinib (2)

A

rashes

paronychia

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50
Q

types of drugs that could combat cancer (4)

A

glycolysis inhibitors
EGFR inhibitors
telomerase inhibitors
VEGF signal inhibitors

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51
Q

T790M mutation

A

mutation in EGFR receptors that enables resistance to TKIs

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52
Q

Osimertinib

A

EGFR inhibitor used 2nd line after T790M mutations

53
Q

frequency of breast screening in the UK?

A

every 3 years once in the age range

54
Q

2 views of mammogram

A

mediolateral oblique

craniocaudal

55
Q

Mediolateral oblique view

A

Breast compression from medial to lateral, use of a 30-60 degree angle, divided into superior and inferior breast

56
Q

craniocaudal view

A

Breast compression from superior to inferior, divided into outer and inner breast

57
Q

where is most breast tissue within the breast?

A

upper outer quadrants

58
Q

why is it important to get axilla in your MLO view?

A

some breast tissue in and near axilla

59
Q

what are you looking for on mammogram?

A

Masses

calcification

60
Q

Coarse calcifications in breast are usually what?

A

more likely to be benign

described as teacupping

61
Q

fine calcifications in breast usually indicate?

A

worrying for malignancy

62
Q

branching micro calcification in a segmental pattern is suggestive of which cancer?

A

ductal carcinoma in situ

63
Q

when should you do a true lateral mammogram?

A

if abnormality on initial views, may allow you to get a better view of an invasive element

64
Q

What does in situ mean?

A

still within the basement membrane

65
Q

stereotactic breast biopsy

A

technique that combines mammography and computer-assisted biopsy to obtain tissue from a breast lesion

66
Q

spiculated mass

A

centrally dense lesion with sharp lines radiating from the margins

67
Q

is a benign mass usually mobile or tethered?

A

mobile

68
Q

is a malignant mass usually mobile or tethered?

A

tethered

69
Q

above what age would you biopsy a benign mass just in case?

A

25

70
Q

Fibroadenoma

A

a round, firm, rubbery mass that arises from excess growth of glandular and connective tissue in the breast
very common

71
Q

breast cyst

A

fluid-filled sac in breast tissue - smooth, easily movable
very common
sometimes painful

72
Q

treating breast cysts

A

conservative

aspirate if painful

73
Q

most common solid mass in women?

A

most common solid mass in women

fibroadenoma

74
Q

most common mass in female breast?

A

most common solid mass in women

fibroadenoma

75
Q

Breast Abscess - define

A

localized collection of pus in the breast tissue

common when breastfeeding

76
Q

what 2 organisms commonly cause breast abscess?

A

staph aureus

pseudomonas aeruginosa

77
Q

Treatment of breast abscess?

A

incision and drainage

78
Q

Gynaecomastia

A

Benign enlargement of tissue in the male breast, either ductal or glandular

79
Q

treating gynaecomastia?

A

locate underlying cause and treat

maybe surgical excision if psychological stress

80
Q

triple assessment for breast cancer

A

clinical examination
imaging
biopsy

81
Q

Categories in breast cancer biopsy

A

category 1 in breast cancer biopsy
normal tissue

category 2 in breast cancer biopsy
benign tissue

category 3 in breast cancer biopsy
uncertain tissue

category 4 in breast cancer biopsy
suspicious of malignancy

category 5a in breast cancer biopsy
intra-epithelial, needs excision

category 5b in breast cancer biopsy
invasive, needs excision and sentinel lymph node biopsy

82
Q

Comedo necrosis

A

central necrosis of cancer cells within involved ducts

83
Q

how does cancer calcify in breast tissue?

A

central necrosis of cancer cells within involved ducts

84
Q

what does B5 warrant treatment wise?

A

wide local excision

dissect specimen to investigate margins

85
Q

how to grade breast cancer neoplasms?

A

based on cell differentiation, how much mitosis there is and whether glands are still forming

86
Q

E-cadherin

A

an intercellular adhesion molecule, which some malignant cells lose

87
Q

does ductal neoplasia still have e-cadherin?

A

yes so shows up on staining

88
Q

does lobular neoplasia have e-cadherin

A

no

helps differentiate from glandular

89
Q

E-cadherin
an intercellular adhesion molecule, which some malignant cells lose

Which has it still, ductal neoplasia or lobular neoplasia?

A

does ductal neoplasia still have e-cadherin?

yes so shows up on staining

90
Q

what receptors can breast tumours express? (3)

A

oestrogen
progesterone
HER2/neu

91
Q

HER2/neu

A

growth factor gene highly activated in cells of certain types of breast cancer

92
Q

treatment for Her2 positive breast cancer?

A

Trastuzumab/Herceptin

93
Q

treating oestrogen receptor positive breast cancer

A

anti-oestrogen therapy

94
Q

molecular subtypes of breast cancer?

A

Luminal A
Luminal B
Triple negative/basal-like
HER2 rich

95
Q

which subtypes of breast cancer more likely to have BRCA mutations?

A

basal-like

HER2 rich

96
Q

significance of BRCA mutations

A

women with these have a high risk of breast and ovarian cancer

97
Q

how do we identify lymph-vascular invasion?

A

fluorescent dye injected
identify first lymph node that drains an area
remove it, dissect it and see whether cancerous

98
Q

drug for oestrogen receptor positive breast cancer

A

tamoxifen

99
Q

Luminal A breast cancer

A

hormone receptor positive
HER2 negative
low Ki-67
good prognosis

100
Q

Luminal B breast cancer

A

hormone receptor positive
either HER2 positive or negative
high Ki-67

101
Q

Triple negative breast cancer

A

dont express ER, PR, or Her2, very hard to treat, more common in women with BRCA1 mutations

102
Q

HER2 enriched breast cancer

A

HER2 positive, hormone receptor negative

grow fast

103
Q

endobrachial ultrasound (EBUS)

A

performed during bronchoscopy to diagnose and stage lung cancer
transbronchial needle aspiration through endoscope

104
Q

2 main divisions of lung cancer

A

non-small cell lung carcinoma

small cell/neuroendocrine carcinoma

105
Q

Types of NSCLC (4)

A

Adenocarcinoma
Squamous cell carcinoma
Mesothelioma
Large cell carcinoma

106
Q

Types of small cell carcinoma

A

carcinoid
atypical carcinoid
small cell neuroendocrine
large cell endocrine

107
Q

where is lung adenocarcinoma often located?

A

Types of small cell carcinoma

108
Q

4 molecular mutations in lung cancer

A

EGFR
ALK
PD-L1
ROS1

109
Q

markers for lung adenocarcinoma (2)

A

TTF-1

Napsin A

110
Q

Which tumours commonly metastasise to bone?

A

lung
breast
prostate
ovary

111
Q

which tumours commonly metastasise anywhere?

A

melanoma
kidney
thyroid

112
Q

most common areas of bone metastasis

A 
spine
pelvis
femur
humerus
ribs
skull
113
Q

Where in the lung is Squamous cell carcinoma found?

A

centrally

114
Q

markers for squamous cell carcinoma of the lung? (3)

A

p40
p63
CK5/6

115
Q

markers for small cell neuroendocrine carcinoma (2)

A

CD56

Chromogranin

116
Q

Markers for mesothelioma (2)

A

WT-1

calretinin

117
Q

characteristics of small cell neuroendocrine carcinoma

A

highly cellular

very large nuclei

118
Q

pleural effusion in cancer

can be … or ….

A

can be reactive or malignant

119
Q

malignant pleural effusion

A

malignant pleural effusion
cancerous cells increase production of pleural fluid
sign of worse prognosis and progression

120
Q

treating malignant pleural effusion

3

A

pleural taps
tunnel drains
pleurodesis

121
Q

pleurodesis - what is this?

A

Infusion of a sterile, irritating substance into the pleural space, causing the pleural linings to fuse to one another by developing scar tissue

122
Q

Risk in draining pleural effusion too quickly?

A

can get re-expansion pleural oedema

123
Q

rare malignant tumor arising in the pleura associated with asbestos exposure?

A

mesothelioma

124
Q

mesothelioma

A

rare malignant tumor arising in the pleura associated with asbestos exposure

125
Q

differential for mesothelioma

A

(Rare malignant tumor arising in the pleura associated with asbestos exposure)

adenocarcinoma with pleural thickening

126
Q

what do metastasis look like on imaging

A

multiple and bilateral
sharply outlined
necrotic

127
Q

how to decide if a tumour is primary or metastasis using immunohistochemistry

A

look at markers to identify cancer

128
Q

which cancer metastasises to bone the most?

A

prostate

Scientific Basis of Medicine (35 decks)

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