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1
Q

What is seen on blood smear in ALL?

A

Blast cells

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2
Q

What suggests good prognosis in ALL?

A

FAB L1 type
Pre-B phenotype
Low initial WCC
Deletion of 9p

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3
Q

What suggests poor prognosis in ALL?

A 
FAB L3 type
T or B cell surface markers
Philadelphia translocation
Age <2 or >10
Male
CNS involvement
High initial WCC >100
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4
Q

What is the most common type of AML?

A

M3 - acute promyelocytic

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5
Q

What translocation is seen in APML?

A

t(15;17) - fusion of PML and RAR-alpha genes

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6
Q

What is seen in BM biopsy in AML?

A

Auer rods

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7
Q

What is the treatment of APML?

A

All-trans retinoic acid (ATRA) and anthracycline chemotherapy

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8
Q

What are the poor prognostic features of AML?

A

> 60 years
20% blasts after first course of chemo
Deletion of chromosome 5 or 7

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9
Q

In which leukaemia are smudge cells seen on blood film?

A

CLL

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10
Q

What is the treatment of CLL?

A

FCR (fludarabine, cyclophosphamide, rituximab)

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11
Q

What are the complications of CLL?

A

Hypogammaglobulinaemia leading to secondary bacterial infection
Warm autoimmune haemolytic anaemia
Richter’s transformation

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12
Q

What is Richter’s transformation?

A

Leukaemia cells enter lymph node and change into high grade fast growing NHL

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13
Q

What are poor prognostic features of CLL?

A 
Male
Age >70
Lymphocytosis
Raised LDH
17p13 deletion
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14
Q

What is the genetic mutation in CML?

A

95% philadelphia chromosome - ABL proto-oncogene from C9 fused with BCR gene on C22
Codes for a fusion protein with high tyrosine kinase activity

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15
Q

What is seen on BM biopsy in CML?

A

Hypercellular

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16
Q

What is the treatment of CML?

A

Imatinib (tyrosine kinase inhibitor)

Hydroxyurea and IFN alpha 2nd line

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17
Q

What is a complication of CML?

A

Blast transformation to AML in 80% and ALL in 20%

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18
Q

What mutation is common in hairy cell leukaemia?

A

BRAF

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19
Q

How is hairy cell leukaemia diagnosed?

A

Dry tap despite BM hypercellularity

TRAP stain +ve

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20
Q

What is the treatment of hairy cell leukaemia?

A

Cladribine, pentostatin, rituximab

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21
Q

What is the genetic mutation that can be seen in multiple myeloma?

A

RAS gene mutations

KRAS, HRAS, NRAS

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22
Q

What causes hypercalcaemia in multiple myeloma?

A

Increased osteoclastic bone resorption by IL-1 or TNF released by myeloma cells
Increased renal tubular reabsorption of calcium
Elevated PTH-rP

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23
Q

How is multiple myeloma diagnosed?

A 
IgA paraproteinaemia
IgA in serum and urine (Bence Jones)
BM biopsy - increased plasma cells
X-Ray - raindrop skull
Whole body MRI
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24
Q

What is the treatment of younger myeloma patient?

A

Bortezomib melphalan and prednisolone

with high dose chemotherapy (HDT) with autologous stem cell Tx

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25
What are the complications of myeloma?
``` Amyloidosis Macroglossia Carpal tunnel Hyperviscosity Renal failure ```
26
MGUS and smouldering myeloma progress to myeloma at what rate per year?
MGUS - 1% | Smouldering - 10%
27
What is poor prognosis in myeloma?
Raised B2 microglobulin | Low albumin
28
50% of Waldenstrom's macroglobulinaemia patients have which deletion?
Chromosome 6q
29
How is WMG diagnosed?
IgM paraproteinaemia >30g Raised RF FBC with flow cytometry Serum protein electrophoresis
30
How is Waldenstrom's macroglobulinaemia differentiated from multiple myeloma clinically?
No bone lesions/pain
31
What is the treatment of Waldenstrom's macroglobulinaemia?
Rituximab based chemo with dex, cyc, fludarabine
32
Why do WMG patients receiving rituximab need IgM monitoring?
Risk of IgM flare which leads to hyperviscosity
33
How is Hodgkin's lymphoma diagnosed?
LN biopsy - Reed Sternberg cells Raised LDH Normocytic anaemia Eosinophilia
34
What are risk factors for lymphoma?
Chemo/radiotherapy Immunodeficiency Autoimmune conditions
35
What is the treatment of hodgkin's lymphoma?
ABVD Adriamycin (doxorubicin) Bleomycin Vincristine Dacarbazine
36
How is Hodgkin's lymphoma staged?
Ann-Arbor Stage I-IV for lymph nodes A = pruritus B = all other B symptoms
37
Which Hodgkin's lymphoma has the best and worse prognosis?
Best - nodular sclerosing Worst - lymphocyte depleted Most common - lymphocyte predominant
38
What are 3 common types of B cell lymphoma?
Mantle Cell B-cell follicular Diffuse large B cell
39
What mutations are seen in Mantle cell and B cell-follicular lymphoma?
Mantle cell: t(11;14) --> over-expression of BCL-1 B-cell follicular t(14;18) --> over expression of BCL-2
40
What is the treatment of NHL?
R-CHOP chemotherapy ``` Rituximab Cyclophosphamide Doxorubicin (hydroxydaunomycin) Vincristine (oncovin) Prednisolone ```
41
25% of low grade B cell follicular lymphoma transform to what?
Diffuse large B cell
42
What are the 2 types of Burkitt's lymphoma?
Endemic African: maxilla/mandible | Sporadic: ileocaecal
43
What are the risk factors for Burkitt's lymphoma?
EBV and AIDs
44
What translocation is seen in Burkitt's lymphoma?
t(8;14) - c-myc oncogene translated to Ig gene
45
What is seen on lymph node biopsy in Burkitt's lymphoma?
Starry sky - lymphocyte sheets interspersed with macrophages containing dead apoptotic tumour cells
46
What is the treatment of Burkitt's lymphoma?
CYC, MTX, cytosine arabinoside, vincristine
47
What is the treatment of T and NK cell lymphoma?
VHOP
48
What is the inheritance of factor V leiden and anti-thrombin III deficiency?
Autosomal dominant
49
What is the PPY of factor V leiden?
Gain of function in factor V leiden protein - activated factor V is inactivated 10x more slowly by activated protein C
50
What is the prevalence and risk of VTE in factor V Leiden?
Prevalence 5% | Risk of VTE 4% (homozygotes 10% but prevalence 0.05%)
51
What is the inheritance of protein C deficiency?
Autosomal co-dominant
52
What are the features of protein C deficiency?
VTE | Skin necrosis following commencement of warfarin (temporary pro-coagulant state --> thrombosis in venules)
53
How is protein C deficiency diagnosed?
Copperhead snake venom assay
54
What is the function of anti-thrombin?
Inhibits thrombin, factor C, factor IX, and mediates the effects of heparin
55
What is monitored in anti-thrombin deficiency?
Anti-Xa to ensure adequate anticoagulation | As there is a degree of resistance to heparin
56
What does Protein S do?
Activates protein C in the degradation of factor Va and VIIIa
57
What are the features of anti-phospholipid syndrome
Arterial and venous thromboses Recurrent foetal loss Thrombocytopenia Prolonged APTT
58
What is the mechanism of action of cyclophosphamide and cisplatin?
Causes cross-linking in DNA
59
Name 4 anti-metabolites.
Methotrexate Fluorouracil 6-mercaptopurine Cytarabine
60
What is the mechanism of action of vincristine and docetaxel?
Acts on microtubules
61
Which drug stabilises DNA-topoisomerase II complex?
Doxorubicin
62
Which drug inhibits topoisomerase I?
Irinotecan
63
Which drug inhibits ribonucleotide reductase?
Hydroxyurea
64
Which drug has the side effect profile of Low Mg, ototoxicity, and peripheral neuropathy?
Cisplatin
65
What are the side effects of fluorouracil?
Myelosuppression Mucositis Dermatitis
66
What is the biggest side effect of doxorubicin?
Cardiomyopathy
67
Which cytotoxic drugs lead to lung fibrosis?
Methotrexate | Bleomycin
68
What percentage of haemophilia is sporadic?
30%
69
What are the features of severe haemophilia?
Frequent spontaneous deep muscle haematomas and haemoarthroses, usually resulting in joint deformity Presents <1 year
70
How is haemophilia diagnosed?
Prolonged APTT Normal PT Normal bleeding time Normal vWF Plasma factor VIII and IX assay
71
What is the treatment of severe haemophilia?
Factor VIII/IX concentrates
72
What is the treatment of acquired or mild haemophilia?
DDAVP | Tranexamic acid
73
What are the features of haemophilia carriers?
Asymptomatic | Prolonged APTT
74
What is the cause of acquired haemophilia?
Systemic inflammatory conditions - factor VIII antibodies Drugs: phenytoin, penicillin, sulphonamides
75
How can you differentiate drug induced from genetic haemophilia?
In drug induced, APTT remains prolonged after 50:50 mixing study
76
What is the function of vWF?
Protein made in endothelial cells and megakaryocytes Mediates platelet aggregation and adhesion to exposed subendothelium Binds and stabilises coagulation factor VIII
77
What are the features of von Willebrand disease?
Bruising Mild-mod mucocutaneous bleeding In type 3 factor VIII is also severely decreased - joint and GI bleeding
78
How is von Willebrand disease diagnosed?
Normal or mildly prolonged APTT Mild thrombocytopenia Prolonged bleeding time VWF screening tests: antigen, activity, factor VIII activity
79
What is the treatment of VWD?
T1: DDAVP, tranexamic acid T2: trial of DDAVP (less responsive) T3: VWF containing concentrates, anti-fibrinolytics
80
What are the biochemical features of DIC?
``` Thrombocytopenia Raised d-dimer Low fibrinogen Raised FDPs Prolonged APTT and PT ```
81
What is the cause of hypogammaglobulinaemia in CLL?
Suppression of normal B cell proliferation | Increased proliferation of dysfunction leukaemic B cells that do not produce functional antibodies
82
What does Ca15.3 correspond to?
Breast cancer
83
What does S-100 tumour marker correspond to?
Melanoma, schwannoma
84
What does alfatoxin cause?
HCC
85
What is a risk factor for hepatic angiosarcoma?
Vinyl chloride
86
What cancers do aniline dyes, asbestos, and nitrosamines cause?
Aniline dye: TCC bladder Asbestos: bronchial Ca and mesothelioma Nitrosamines: oesophageal and gastric Ca
87
Where is leucocyte alkaline phosphatase found?
Mature WBC
88
How can you differentiate CML and myelofibrosis?
Low leucocyte alkaline phosphatase in CML (raised in myelofibrosis)
89
Name 5 causes of secondary polycythaemia.
COPD Altitude OSA XS EPO: RCC, hepatoma, cerebellar haemangioma
90
How can you differentiate between primary/secondary (true) polycythaemia, and relative polycythaemia?
Red cell mass increased
91
95% polycythaemia vera patients have which mutation?
JAK2
92
What are the features of polycythaemia vera?
``` Hyperviscosity sx Pruritus after hot bath Splenomegaly Bleeding Plethora Hypertension Low ESR ```
93
What tests are required to diagnose polycythaemia vera if JAK2 is negative?
``` Red cell mass Arterial oxygen saturation Abdo USS Serum EPO Bone marrow aspirate and trephine Cytogenetic analysis Erythroid burst-forming unit culture ```
94
10% polycythaemia vera patients progress to...
Myelofibrosis or AML
95
What is the treatment of polycythaemia vera?
Aspirin Venesection Hydroxyurea
96
How is smouldering myeloma differentiated from MGUS?
MGUS: paraprotein <30g/L, BM plasma cells <10%, no organ impairment Smouldering: paraprotein >30g/L, BM plasma cells 10-60%, no organ impairment
97
What is the pathophysiology of myelofibrosis?
Hyperplasia of abnormal megakaryocytes | Release of platelet derived growth factor - stimulates fibroblasts
98
What are the features of myelofibrosis?
Anaemia sx Massive splenomegaly Hypermetabolic sx
99
How is myelofibrosis diagnosed?
High WCC and platelets Anaemia Blood film - tear drop poikilocytes High urate and LDH
100
What mutation is seen in essential thrombocytosis?
JAK2 in 50% | CALR in 10%
101
What is the characteristic feature of essential thrombocytosis?
Burning sensation in hands
102
What is the treatment of essential thrombocytosis?
Hydroxyurea | Aspirin
103
What are the features of laboratory tumour lysis syndrome?
Uric acid>475 K>6 PO4>1.125 Ca<1.75 OR 25% increase in any component
104
What are the features of clinical TLS?
Lab TLS + Increased creatinine >1.5x normal Arrhythmia/sudden death Seizure
105
What are 5 causes of intravascular haemolysis?
``` Mismatched blood transfusion G6PD Red cell fragmentation e.g. heart valves, TTP, DIC, HUS Paroxysmal nocturnal haemoglobinuria Cold autoimmune haemolytic anaemia ```
106
What are 5 causes of extravascular haemolysis?
``` Haemoglobinopathies Sickle cell anaemia Spherocytosis Haemolytic disease of newborn Warm autoimmune haemolytic anaemia ```
107
What is the most common hereditary haemolytic anaemia in Northern Europe?
Hereditary spherocytosis
108
What are the features of hereditary spherocytosis?
``` FTT Jaundice Gallstones Splenomegaly Aplastic crisis precipitated by parvovirus ```
109
How is spherocytosis diagnosed?
EMA binding test and cryohaemolysis test
110
What is the long term treatment of spherocytosis?
Folate replacement | Splenectomy
111
What are the differences between spherocytosis and G6PD def?
G6PD: males (X-linked recessive), African/Mediterranean, intravascular haemolysis Spherocytosis: autosomal dominant, Northern European, extravascular haemolysis
112
Name 5 causes of macrocytic anaemia.
``` Alcohol Liver disease Vit B12/folate def Pregnancy Hypothyroidism ```
113
What proteins are seen in functional asplenia/splenectomy patients?
Howell-Jolly bodies
114
What conditions are target cells/codocytes seen?
Chronic liver disease Sickle cell disease Thalassaemia Post-splenectomy
115
What causes rouleaux formation?
High plasma protein
116
What is the inheritance of sickle cell anaemia?
Autosomal recessive
117
When do symptoms of sickle cell arise and why?
4-6 months Abnormal HbSS molecules take over from HbF
118
What causes sickling of HbS?
Polar aa glutamate replaced by non polar valine/lysine in haemoglobin beta chains This decreases the water solubility of deoxygenated Hb HbS molecules polymerise and cause RBCs to sickle Homozygous patients sickle at higher pO2s therefore more severe
119
What are the features of sickle cell trait, HbAS?
Usually asymptomatic
120
How is sickle cell anaemia diagnosed?
Haemoglobin electrophoresis
121
What is the treatment of sickle cell anaemia?
Pen V prophylaxis | Hydroxycarbamide
122
What are the characteristics of warm autoimmune haemolytic anaemia?
IgG Haemolysis at body temp Extravascular haemolysis Responds well to steroids
123
What are the characteristics of cold autoimmune haemolytic anaemia?
IgM Haemolysis at 4 degrees Intravascular haemolysis Responds less well to steroids
124
What is the pathophysiology of sideroblastic anaemia?
Ineffective erythropoiesis - poor incorporation of iron into nucleus of erythroblasts Haem not completely formed Deposition of iron in mitochondria that forms a ring around the nucleus
125
What are the causes of sideroblastic anaemia?
``` Delta-aminolevulinate synthase-2 deficiency Myelodysplasia Alcohol Lead Anti-TB ```
126
How is sideroblastic anaemia diagnosed?
Hypochromic microcytic anaemia High iron/ferritin/transferrin sats Blood film - basophilic stippling BM biopsy - Prussian blue/Perl's stain - ringed sideroblasts
127
What is seen on blood film in DIC?
Helmet cells/schistocytes (indicates MAHA)
128
What is the PPY of TTP?
Deficiency of ADAMTS13 which normally breaks down large multimers of VWF Platelets clump within vessels
129
What are the causes of TTP?
``` Post infection Pregnancy Ciclosporin/COCP/penicillin SLE HIV ```
130
What is the treatment of TTP?
Plasma exchange +/- platelet transfusion
131
What is the pathophysiology of ITP?
Antibodies directed against glycoprotein IIb/IIIa or Ib-V-IX complex
132
What is the treatment of ITP?
Emergency: platelet transfusion, IV methypred, IVIG Plts<30: oral pred Plts>30: observation
133
What is the cause of porphyia cutanea tarda?
Defect in uroporphyrinogen decarboxylase - inherited or caused by hepatocyte damage
134
What is the treatment of PCT?
Chloroquine | Venesection in ferritin >600ng/ml
135
What are the features of PCT?
``` Photosensitive rash with bullae Skin fragility on face and dorsal aspect of hands Hypertrichosis Skin hyperpigmentation Dark urine - elevated uroporphyrinogen ```
136
Low plasma levels of C1 inhibitor protein cause which condition?
Hereditary angioedema (AD)
137
What is the treatment of hereditary angioedema?
Acute: IV C1 inhibitor concentrate Chronic: Danazol
138
Which condition features chocolate cyanosis and decreased oxygen saturations, with normal pO2?
Methaemoglobinaemia
139
What is methaemoglobinaemia?
NADH methaemoglobin deficiency causing oxidation of iron within haemoglobin from Fe2+ to Fe3+. Fe3+ cannot bind oxygen therefore there is tissue hypoxia (O2 curve moved to left)
140
Which drugs can cause methaemoglobinaemia?
``` Nitrates Dapsone Sulphonamides Sodium nitroprusside Haemodialysis (inadequate removal of chloramines) ```
141
What is the treatment of methaemoglobinaemia?
NADH enzyme def: ascorbic acid Acquired: IV methylthioninium chloride
142
What is the pathophysiology of paroxysmal nocturnal haemoglobinuria?
Increased sensitivity of cell membranes to complement, due to a lack of GPI Lack of CD59 on platelet membranes predisposing to platelet aggregation
143
What are the features of PNH?
Increased risk of VTE Haemolytic anaemia Pancytopenia Haemoglobinuria in the morning
144
How is PNH diagnosed?
Flow cytometry of blood to detect low levels of CD59 and CD55
145
What is the mechanism of action of tamoxifen?
Oestrogen receptor antagonist and partial agonist
146
What are the side effects of tamoxifen?
Menstrual disturbance Hot flushes VTE Endometrial cancer
147
What is the mechanism of action of anastrazole and letrozole?
Reduce peripheral oestrogen synthesis
148
Name 3 B cell immunodeficiency disorders.
Common variable immunodeficiency Bruton's X-linked congenital agammaglobulinaemia Selective immunoglobulin A deficiency
149
What is Chediak-Higashi syndrome?
Microtubule polymerization defect --> decrease in phagocytosis --> defect in neutrophils
150
Name 3 combined B and T cell disorders.
SCID Ataxic telangiectasia Wiskott-Aldrich syndrome
151
Name 5 immune related adverse effects of immunotherapy drugs.
``` Thyroiditis Hypophysitis Adrenalitis T1DM Colitis ```
152
When does acute graft vs host disease occur and what are the features?
First 100 days post transplant Skin rash that starts on palms and soles Diarrhoea Jaundice
153
Which chromosomes have mutations in thalassaemia?
Alpha: 16 Beta:11
154
How is thalassaemia diagnosed?
Disproportionate microcytic anaemia Elevated serum iron and ferritin Hb electrophoresis: HbA2>3.5%, HbF raised, HbA absent in b-thalassaemia major
155
What type of cell is seen in alpha thalassaemia?
Mexican hat cell
156
What is the management of thalassaemia?
Lifelong blood transfusions Iron chelation: deferiprone + ascorbic acid Hydroxyurea Splenectomy
157
Where does erythropoiesis occur?
Red bone marrow Found in flat bones and proximal long bones
158
From where do erythrocytes originate from?
Myeloid precursor cells
159
What is the function of EPO?
Produced on detection of low oxygen levels Increases uptake of iron, heme biosynthesis, and globin gene transcription
160
What are the side effects of EPO therapy?
``` Accelerated HTN Bone aches Flu like Rash Pure red cell aplasia (antibodies against EPO) Iron def ```
161
What are the features of acute haemolytic transfusion reaction?
Fever Chest/abdo pain Hypotension Occurs minutes after transfusion is started
162
How do you differentiate TACO from TRALI?
TACO - hypertensive | TRALI - hypotensive

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