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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

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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
unregulated cell growth that can invade and spread from primary site around the body =
Cancer
26
epithelial cell tumours
carcinomas
27
mesodermal tumour?
sarcoma
28
glandular cell tumours?
adenocarcinomas
29
general risk factors for cancer
``` radiation ageing pollution radon gas diseases e.g. COPD family hx occupation asbestos smoking ```
30
causes of lung cancer (5)
smoking, passive smoking, air pollution, asbestos, occupational
31
2 tests for lung cancer
bronchoscopy and biopsy
32
2 types of cancer mutations?
germ line | somatic
33
oncogenes are..
genes that can cause cancer by dysregulating cell division
34
proto-oncogenes are….
the corresponding normal cellular genes that are responsible for normal cell growth and division
35
Tumour suppressor genes
Genes in normal cells that suppress uncontrolled cell proliferation, can get loss of function mutations causing cancer
36
mutation for proto-oncogenes has what dominance?
dominant allele
37
mutation for tumour suppressor has what dominance?
recessive allele so need 2
38
why does ageing increase cancer risk?
often need many mutations over time to cause cancer, longer life increases the risk
39
Hallmarks of Cancer
``` 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 ```
40
how do cancer cells avoid immune destruction?
how do cancer cells avoid immune destruction? | hide from immune surveillance e.g. by not replicating
41
Why can cancer cells replicate forever?
hold onto telomeres so they don't shorten
42
how does angiogenesis help tumours?
blood supply needed for growth
43
why is genomic instability useful for cancers?
the more alterations the more likely cancer is
44
how does cancer evade cell death?
doesn't respond to apoptotic signals
45
how can cancer cells reprogram energy metabolism?
can do glycolysis even if oxygen present
46
PD-L1 mutation
a mutation which helps cancer evade immune system, present in many cancers
47
EGFR
epidermal growth factor receptor, can mutate in some cancers
48
afatinib is..
EGFR inhibitor/tyrosine kinase inhibitor
49
side effects of afatinib (2)
rashes | paronychia
50
types of drugs that could combat cancer (4)
glycolysis inhibitors EGFR inhibitors telomerase inhibitors VEGF signal inhibitors
51
T790M mutation
mutation in EGFR receptors that enables resistance to TKIs
52
Osimertinib
EGFR inhibitor used 2nd line after T790M mutations
53
frequency of breast screening in the UK?
every 3 years once in the age range
54
2 views of mammogram
mediolateral oblique | craniocaudal
55
Mediolateral oblique view
Breast compression from medial to lateral, use of a 30-60 degree angle, divided into superior and inferior breast
56
craniocaudal view
Breast compression from superior to inferior, divided into outer and inner breast
57
where is most breast tissue within the breast?
upper outer quadrants
58
why is it important to get axilla in your MLO view?
some breast tissue in and near axilla
59
what are you looking for on mammogram?
Masses | calcification
60
Coarse calcifications in breast are usually what?
more likely to be benign | described as teacupping
61
fine calcifications in breast usually indicate?
worrying for malignancy
62
branching micro calcification in a segmental pattern is suggestive of which cancer?
ductal carcinoma in situ
63
when should you do a true lateral mammogram?
if abnormality on initial views, may allow you to get a better view of an invasive element
64
What does in situ mean?
still within the basement membrane
65
stereotactic breast biopsy
technique that combines mammography and computer-assisted biopsy to obtain tissue from a breast lesion
66
spiculated mass
centrally dense lesion with sharp lines radiating from the margins
67
is a benign mass usually mobile or tethered?
mobile
68
is a malignant mass usually mobile or tethered?
tethered
69
above what age would you biopsy a benign mass just in case?
25
70
Fibroadenoma
a round, firm, rubbery mass that arises from excess growth of glandular and connective tissue in the breast very common
71
breast cyst
fluid-filled sac in breast tissue - smooth, easily movable very common sometimes painful
72
treating breast cysts
conservative | aspirate if painful
73
most common solid mass in women?
most common solid mass in women | fibroadenoma
74
most common mass in female breast?
most common solid mass in women | fibroadenoma
75
Breast Abscess - define
localized collection of pus in the breast tissue | common when breastfeeding
76
what 2 organisms commonly cause breast abscess?
staph aureus | pseudomonas aeruginosa
77
Treatment of breast abscess?
incision and drainage
78
Gynaecomastia
Benign enlargement of tissue in the male breast, either ductal or glandular
79
treating gynaecomastia?
locate underlying cause and treat | maybe surgical excision if psychological stress
80
triple assessment for breast cancer
clinical examination imaging biopsy
81
Categories in breast cancer biopsy
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
Comedo necrosis
central necrosis of cancer cells within involved ducts
83
how does cancer calcify in breast tissue?
central necrosis of cancer cells within involved ducts
84
what does B5 warrant treatment wise?
wide local excision | dissect specimen to investigate margins
85
how to grade breast cancer neoplasms?
based on cell differentiation, how much mitosis there is and whether glands are still forming
86
E-cadherin
an intercellular adhesion molecule, which some malignant cells lose
87
does ductal neoplasia still have e-cadherin?
yes so shows up on staining
88
does lobular neoplasia have e-cadherin
no | helps differentiate from glandular
89
E-cadherin an intercellular adhesion molecule, which some malignant cells lose Which has it still, ductal neoplasia or lobular neoplasia?
does ductal neoplasia still have e-cadherin? | yes so shows up on staining
90
what receptors can breast tumours express? (3)
oestrogen progesterone HER2/neu
91
HER2/neu
growth factor gene highly activated in cells of certain types of breast cancer
92
treatment for Her2 positive breast cancer?
Trastuzumab/Herceptin
93
treating oestrogen receptor positive breast cancer
anti-oestrogen therapy
94
molecular subtypes of breast cancer?
Luminal A Luminal B Triple negative/basal-like HER2 rich
95
which subtypes of breast cancer more likely to have BRCA mutations?
basal-like | HER2 rich
96
significance of BRCA mutations
women with these have a high risk of breast and ovarian cancer
97
how do we identify lymph-vascular invasion?
fluorescent dye injected identify first lymph node that drains an area remove it, dissect it and see whether cancerous
98
drug for oestrogen receptor positive breast cancer
tamoxifen
99
Luminal A breast cancer
hormone receptor positive HER2 negative low Ki-67 good prognosis
100
Luminal B breast cancer
hormone receptor positive either HER2 positive or negative high Ki-67
101
Triple negative breast cancer
dont express ER, PR, or Her2, very hard to treat, more common in women with BRCA1 mutations
102
HER2 enriched breast cancer
HER2 positive, hormone receptor negative | grow fast
103
endobrachial ultrasound (EBUS)
performed during bronchoscopy to diagnose and stage lung cancer transbronchial needle aspiration through endoscope
104
2 main divisions of lung cancer
non-small cell lung carcinoma | small cell/neuroendocrine carcinoma
105
Types of NSCLC (4)
Adenocarcinoma Squamous cell carcinoma Mesothelioma Large cell carcinoma
106
Types of small cell carcinoma
carcinoid atypical carcinoid small cell neuroendocrine large cell endocrine
107
where is lung adenocarcinoma often located?
Types of small cell carcinoma
108
4 molecular mutations in lung cancer
EGFR ALK PD-L1 ROS1
109
markers for lung adenocarcinoma (2)
TTF-1 | Napsin A
110
Which tumours commonly metastasise to bone?
lung breast prostate ovary
111
which tumours commonly metastasise anywhere?
melanoma kidney thyroid
112
most common areas of bone metastasis
``` spine pelvis femur humerus ribs skull ```
113
Where in the lung is Squamous cell carcinoma found?
centrally
114
markers for squamous cell carcinoma of the lung? (3)
p40 p63 CK5/6
115
markers for small cell neuroendocrine carcinoma (2)
CD56 | Chromogranin
116
Markers for mesothelioma (2)
WT-1 | calretinin
117
characteristics of small cell neuroendocrine carcinoma
highly cellular | very large nuclei
118
pleural effusion in cancer | can be … or ….
can be reactive or malignant
119
malignant pleural effusion
malignant pleural effusion cancerous cells increase production of pleural fluid sign of worse prognosis and progression
120
treating malignant pleural effusion | 3
pleural taps tunnel drains pleurodesis
121
pleurodesis - what is this?
Infusion of a sterile, irritating substance into the pleural space, causing the pleural linings to fuse to one another by developing scar tissue
122
Risk in draining pleural effusion too quickly?
can get re-expansion pleural oedema
123
rare malignant tumor arising in the pleura associated with asbestos exposure?
mesothelioma
124
mesothelioma
rare malignant tumor arising in the pleura associated with asbestos exposure
125
differential for mesothelioma
(Rare malignant tumor arising in the pleura associated with asbestos exposure) adenocarcinoma with pleural thickening
126
what do metastasis look like on imaging
multiple and bilateral sharply outlined necrotic
127
how to decide if a tumour is primary or metastasis using immunohistochemistry
look at markers to identify cancer
128
which cancer metastasises to bone the most?
prostate

Scientific Basis of Medicine (35 decks)

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