Haematology/oncology Flashcards
(85 cards)
1
Q
Risk factors for ALL
A
- radiation exposure
- past chemo
- syndromes e.g. trisomy 21, NF1, fanconi anaemia, ataxia telangiectasia
2
Q
tests for ALL
A
- pancytopenia
- blood film- blast cells
- CXR - ?mediastinal mass
- bone marrow aspirate - >20% blast cells
- lumbar puncture - leukaemic cells in CSF. send for cytogenetics and minimal residual disease
3
Q
Poor prognostic factors in ALL
A
- high WCC >50
- minimal residual disease +ve
- boys
- afro caribbean
- <2 y/o + >9 y/o
- philadelphia chromosome t(9,22).
- hypoploidy
- CNS disease
4
Q
presentation of AML
A
proptosis
gum hypertrophy
skin nodules
lymphadenopathy
5
Q
Investigations for AML
A
- FBC - low platelets, high WCC
- blood film - blast cells and auer rods
- bone marrow aspiration and biopsy * - >20% blast cells and immature myeloid lineage cells
6
Q
electrolyte disturbance in tumour lysis syndrome
A
- high uric acid
- high potassium
- high phosphate
- low calcium
- metabolic acidosis
7
Q
management of tumour lysis syndrome
A
- IV fluids
- allopurinolol (prophylaxis)
- rasburicase
- haemodialsysis
8
Q
mechanism of action of allopurinolol
A
inhibit xanthine oxidase
9
Q
mechanism of rasburicase
A
increase solubility of uric acid
10
Q
Presentation of SVC obstruction
A
- SOB
- facial swelling
- engorgement of veins on chest
- hoarse voice
11
Q
side effects of cyclophosphamide
A
haemorrhagic cystitis
12
Q
side effects of metatopurine
A
jaundice, liver derangement
13
Q
side effects of cytarabine
A
hair loss, nausea / vomiting
14
Q
side effects of doxarubicin
A
cardiotoxicity - congestive heart failure, red discoloured urine, liver toxicity
15
Q
side effects of vincristine
A
peripheral neuropathy, constipation,
16
Q
side effects of bleomycin
A
interstitial lung disease, pulmonary toxicity
17
Q
presentation of hodgkins lymphoma
A
- teenagers
- painless lymph node enlargement (cervical/ supraclavicular/ axilla)
- alcohol induced nodal pain
- B symptoms - weight loss, fever, night sweats
18
Q
types of hodgkins lymphoma
A
- nodular sclerosing **
- mixed cellularity
- lymphocyte rich
- lymphocyte depleted
19
Q
lymph node biopsy result in hodgkins lymphoma
A
REED STERNBERG CELLS
multinucleated, giant lymphocyte cells, distinct halo
20
Q
staging of hodgkins lymphoma
A
ANN ARBOR CLASSIFICATION
1 - 1 lymph node
2- >2 LN on same side
3 - LN on both side of diaphragm
4 - multiple extra-nodal origins and mets
21
Q
types of non hodgkins lymphoma
A
- immature forms - T or B cell acute lymphoma
- mature - burkitts
- large cell - diffuse B cell *
22
Q
presentation of non hodgkins lymphoma
A
- more common than hodgkins
- rapidly enlarging and bulky lymphadenopathy
- systemic symptoms
BURKITTS - large abdo mass
23
Q
investigations for non hodgkins lymphoma
A
- FBC - pancytopenia
- cystogenetics or FISH
- CXR - mediastinal lymphadenopathy
- lymph node excision
- flow cytometry - differentiate between B and T cell
24
Q
presentation of medulloblastoma
A
raised iCP - vomiting, headache, papilloedema
abnormal gait
hydrocephalus
facial/ ocular palsies
25
investigations for medulloblastoma
1. contrast MRI brain and spine - hyperdense mass in midline posterior fossa
2. excision biopsy - small round cells that stain blue with HE spectrum
26
describe posterior fossa syndrome
occurs post surgical removal of brain tumour
- language difficulty
- emotional lability
- ataxia
- mutism
27
most common type of astrocytoma
glioma (from glial precursor cells)
28
where do neuroblastomas arise from?
develops within neuronal ganglia of peripheral sympathetic system:
30% - from adrenal medulla
60% - arise from abdominal paraspinal ganglia
29
presentation of neuroblastoma
- non tender mass across the midline - diarrhoea, abdo pain, weight loss
- hypertension
- sweating
- fatigue
- horners dynrome
- paraneoplastic syndrome -> ataxia, 'dancing eyes'
30
1st test if suspect neuroblastoma
urine catechloamines- VMA, HVA (homovanillic acid), neuron specific enolase (poor prognosis)
31
definitive diagnosis of neuroblastoma
biospy **
32
indicator of poor prognosis in neuroblastoma
n-myc amplificiation (MYCN gene)
33
syndromes associated with wilms tumours
1. WT1 gene on 11p13
2. Beckwith wiedeman syndrome
3. trisomy 18
4. denys drash syndrome
5. WAGR
34
describe features of beckwith wiedeman
1. macroglossia
2. organomegaly
3. hypoglycaemia
4. hemi hypertrophy
5. omphalocoele
6. increased wilms tumour
35
presentation of wilms tumours
- painless haematuria
- abdo pain
- hypertension
- anaemia of chronic disease
36
diagnosis of wilms tumour
1. USS.- first test
2. MRI + biopsy **
37
where do osteosarcomas arise from
from osteoblasts
occur in long bones e.g. distal femur, proximal tibia, proximal humerus
38
presentation of osteosarcoma
pathological fractures
pain and swelling
reduced movements
39
diagnosis of osteosarcoma
x ray - osteolytic cortical lesions and erosion, codmans triangle
biopsy **
high ALP
40
where do ewings sarcoma occur?
flat bones or mid shaft of bone e.g. pelvis, chest wall, vertebra
41
x ray appearance of ewings sarcoma
moth eaten appearance
cortical thickening
lytic lesion in diaphysis
42
cause of retinoblastoma
mutation in RB1 gene on chromosome 13q14
if inherited, increased risk of bilateral retinoblastoma
43
presentation of retinoblastoma
leukocoria (white pupillary reflex)
strabismus
reduced vision
44
causes of microcytic anaemia
1. anaemia of chronic disease
2. iron deficiency
3. thalassaemia
45
causes of iron deficiency anaemia
1. dietary insufficiency
2. blood loss e.g. cancer, ulceration, worms, menorrhagia
3. malabsorption e.g. coeliac, post gastrectomy
46
diagnosis in iron deficiency anaemia
1. microcytic hypochromic anaemia
2. low serum iron
3. high transferrin
4. high TIBC
5. film- anisocytosis, poikilocytosis
47
describe sideroblastic anaemia
X linked - unable to use iron in body
1. high serum iron and ferritin
2. low TIBC
3. high iron transferrin saturation
48
cause of beta thalassaemia
autosomal recessive
mutation in beta globin gene on chromosome 11
49
presentation of beta thalassaemia major
present at 3-6 months old.. (as transition to HbA from HbF by 6 months)
- severe anaemia
- faltering growth
- jaundice
- skull bossing
- hepatosplenomegaly
50
blood film in beta thalassaemia
target cells
basophilic stripping
nucleated red blood cells
51
diagnosis of beta thalassaemia
high performance liquid chromatography ** - high HbF, high HbA2, low HbA
molecular genetic studies - detect mutation
FBC - microcytic anaemia
52
management of beta thalassaemia
1. blood transfusion every 3-6 weeks
2. defoxamine - iron chelation therapy
53
causes of macrocyctic anaemia
1. folate deficiency
2. vit B12 deficiency
3. liver disease
4. hypothyroidism
5. diamond blackfan anaemia
54
presentation of diamond blackfan anaemia
1. cranio facial abnormalities e.g. cleft palate, webbed neck
2. thumb abnormalities e.g. hypoplastic, triphalangeal
3. growth restriction
55
diagnosis of diamond blackfan anaemia
1. bone marrow biopsy - reduced erythrpoid precursors
2. increased red cell enzyme ADA
56
inheritance of hereditary spherocytosis
autosomal dominant
57
presentation of hereditary spherocytosis
1. anaemia
2. gallstones *
3. splenomegaly
4. neonatal jaundice
5. viral illness (parvovirus) can trigger haemolytic crisis
58
diagnosis of hereditary spherocytosis
1. FBC - increased red cell width, increased reticulocytes, mild anaemia
2. blood film - spherocytes
3. lFT - increased unconjugated bilirubin
59
management of hereditary spherocytosis
1. steroids
2. folate supplements
3. RBC transfusions
4. pneumococcal/ h.influenza vaccine
5. splenectomy >6 y/o
60
inheritance of sickle cell anaemia
autosomal recessive
point mutation on position 6 of beta globin gene (glutamine -> valine)
61
presentation of sickle cell anaemia
chronic haemolytic anaemia
increased risk of infections with encapsulated organisms
jaundice
aplastic crises secondary to parvovirus
sepsis
vaso-occlusive crises
62
describe the different vaso occlusive crises
1. painful dactylitis
2. avascular necrosis of femoral head
3. acute chest syndrome
4. acute stroke
5. hepatic sequestration
63
diagnosis of sickle cell anaemia
high performance liquid chromotography **
Hb electrophoresis - HbS **
64
describe acute chest syndrome
pleuritic chest pain
tachypnoea
CXR - new pulmonary infiltrates
65
acute management of vaso-occlusive crises in sickle cell anaemia
1. analgesia - opioids
2. hydration
3. oxygen
4. iV antibiotics
5. exchange transfusion ** - in stroke and acute chest
66
chronic management of sickle cell anaemia
1. folic acid
2. prophylactic penicillin
3. hydrocarbamide - increases HbF levels
4. monthly transfusions
5. crizanlizumab
67
complications of sickle cell anaemia
1. cardioomegaly
2. heart failure
3. renal dysfunction
4. pigmented gallstones
5. short stature
6. delayed puberty
68
inheritance of haemophilia
X linked recessive
69
presentation of haemophilia
haematoma at delivery
excessive bleeding
excessive bruising
joint/ soft tissue bleeding
haemoptysis
epistaxis
70
diagnosis of haemophilia
1. factor VIII deficiency in haemophilia A / factor IX deficiency in haemophilia b
2. prolonged APTT
71
management of haemophilia
1. recombinant factor VIII/ IX complex
2. desmopressin for minor bleeds
3. vaccinations s/c (not iM)
72
Inheritance of G6PD deficiency
X linked recessive
73
presentation of G6PD deficiency
1. neonatal jaundice
2. acute haemolytic crisis - drug sensitive or induced by fava beans
74
drugs which cause haemolytic crisis in G6PD deficiency
nitrofurantoin
chloramphenicol
quinine
co-trimoxzole
aspirin
vit K
75
diagnosis of G6PD deficiency
1. G6PD levels reduced
2. FBC - low Hb
3. increased unconjugated bilirubin
4. smear - heinz bodies, bite cells, polychromasia
76
cause of ITP
IgG antibodies made against platelet membrane surface (GPIIb/IIIa) so platelets destroyed in spleen
caused by viral URTI 1-4 weeks prior
77
management of ITP
spontaneous resolution
avoid contact sports
avoid ibuprofen and aspirin
FBC - rule out leukaemia
78
management of resistant ITP
- rituximab (CD20 monoclonal antibody)
- IVIG
79
cause of bernard soulier syndrome
deficiency of platelet glycoprotein GPIb - IX-V complex (receptor for VWF)
autosomal recessive
80
blood film in bernard soulier
large platelets
81
inheritance of wiskott aldrich syndrome
X linked recessive - mutation in WAS gene
82
triad in wiskott aldrich syndrome
1. recurrent infections
2. ecxema
3. low platelets
83
diagnosis of wiskott aldrich sydnrome
1. low IgM
2. high IgA and IgE
3. genetic testing
4. fBC - low plts
84
causes of thrombocytopenia
1. ALL
2. ITP
3. Wiskott aldrich syndrome
4. glanzmann thrombasthenia (AR, severe bleeding)
5. bernard soulier syndrome
6. thrombocytopenia absent radius syndrome
7. DIC
85
diagnosis of VWF deficiency
1. prolonged APTT
2. reduced factor VIII
3. VWF ristocetin cofactor assay
