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Haematology Flashcards

1
Q

Cancer risk in fanconi anaemia

A

700 fold AML risk

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2
Q

MDS and AML germline mutation risk

A

DDX41
RUNX1
SAMD9/SAMD9L

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3
Q

Cancer risk associated with EBV

A

B cell lymphomas - PTLD, Burkitts, Classical HL, DLBCL

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4
Q

Cancer risk associated with HTLV-1

A

Adult T-cell leukaemia/lymphoma

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5
Q

Cancer risk associated with HHV8

A

Kaposi’s sarcoma, primary effusion lymphoma

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6
Q

Essential thrombocytopenia

A

JAK2 (V617F) in 60-65%, CALR, MPL
10% triple negative - decreased vascular events
Risk of venous and arterial thrombosis
Normocellular bone marrow with enlarged megakaryocytes
<1% 10 year leukaemia transformation
Manage: Aspirin +/- hydroxyurea +/- systemic anticoagulation

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7
Q

Polycythaemia vera

A

JAK2 (V617F) in 96%, JAK2 exon 12 mut in 4%, wild-type JAK2 very rare
Risk of venous and arterial thrombosis.
Present with headache, facial plethora, pruritus, hypertension
3% 10 year leukaemia transformation
Erythrocytosis +/- thrombocytosis +/- leukocytosis
Management:
-Aspirin for all
-HCT target <0.45
-Venesection
-Cytoreduction (hydroxyurea or IFN) if high risk - >65 or history of thrombosis

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8
Q

Primary myelofibrosis

A

Characterised by proliferation of megakaryocytes
JAK 2 in 60-65%, CALR 25-30%, MPL in 4-5%. 5-10% triple negative
Pre-fibrotic phase: anaemia, leucocytosis, raised LDH, splenomegaly
Tear drop cells on blood film
Risk of leukaemic transformation calculated by DIPSS score
Presence of ASXL1 and CALR mutations are poor prognostic factors
Management
-Supportive
-JAK inhibitor (Ruxolitinib)
-SCT for younger patinets

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9
Q

Ruxolitinib

A

Selective JAK1/2 inhibitor
-Decrease spleen size
-Decrease constitutional symptoms
-Improve anaemia
-Does not reduce leukaemic transformation
-May improve survival

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10
Q

CML

A

Driver gene: Ph chromosome translocation t9:22
Gives rise to BCL:ABL fusion gene
Production of fusion gene is a protein with dysregulated TKI activity
Chronic phase (90%) and blast phase
Management
-TKIs - 2nd gen better molecular response but no improvement in overall survival and worse side effects

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11
Q

Mastocytosis

A

Accumulation of abnormal mast cells in various tissues
Activation mutation of KIT receptor - present in >80% of patients with systemic mastocytosis

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12
Q

Chronic myelomonocytic leukaemia

A

Monocytosis >3 months
Splenomegaly, absence of MPN driver mutations
Somatic mutations commonly encountered: TET2, SRSF2, ASXL1
Management
-Supportive
-Cytoreductive agents if proliferative
-Azacitidine

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13
Q

Myelodysplastic syndromes

A

Group of clonal haematopoetic stem cell malignancies
Assoc with:
1. Bone marrow failure
2. Peripheral cytopenia
3. Propensity for progression to acute leukaemia
1 or more cytopenias on blood film + macrocytic anaemia + dysplasia
Assoc with environmental factors: benzene, radiation, tobacco, chemo
Assoc. with genetic abnormalities: trisomy 21, Fanconi, Bloom

<20% blasts

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14
Q

Poor prognostic mutations in MDS

A

TP53 and FLT3 and MLL mutations = poor prognosis

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15
Q

Good prognostic mutations in MDS

A

SF3B1 mutations = favourable prognosis

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16
Q

MDS management

A

If old and crumbly: supportive
If low risk: Luspatacept or sotatercept
If high risk:
-Azacitidine
-If Del 5Q present - lenalidomide
-SCT if young

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17
Q

AML

A

> 20% blasts, Auer rods diagnostic
Immunophenotyping: CD34, CD117, CD13, CD33, HLA-DR
FLT-3/ITD mutations = poor prognosis
If NMP1 present = slightly better prognosis

Management
-if fit: 7+3 anthracycline + cytarabine then SCT
-If not fit: azacitidine + venetoclax

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18
Q

Targeted therapy in AML

A

-Midostaurin if FLT3 mutation
-Gilterinib if relapsed FLT3 mutation positive
-Gemtuzumab ozogamicin if CD33+ve FLT3 negative

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19
Q

Definition of relapse in AML

A

> 5% bone marrow blasts, or
any peripheral blasts in 2 samples on week apart, or
Development of new extramedullary disease

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20
Q

APML

A

Commonly presents with DIC –> early death rates d.t. coagulopathy
Genetic hallmark: t(15;17)(q24:21) - leads to fusion of promyelocytic leukaemia and retinoic receptor alpha genes to form PML:RARA oncogene with impairs myeloid differentiationA

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21
Q

APML management

A

Standard vs high risk (WCC>10)
All trans retinoic acid (ATRA) + arsenic trioxide (ATO)
+/- chemo (anthracycline)o

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22
Q

Differentiation syndrome

A

Occurs after commencement of treatment in APML
Risk factors: WCC >10 and increased creatinine
Characterised by fever, weight gain of >5kg, peripheral oedema, hypotension, AKI and pulmonary infiltrates
Treatment: Stop ATRA, give steroids

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23
Q

ALL

A

> 20% leukocyte blasts in marrow
NO Auer rods
Recurring chromosomal rearrangements are a hallmark of T-ALL
Immunophenotyping of blasts:
B cell: CD19, CD79a, CD22
T cell: CD1, CD2, CD3, CD5, CD9
Extramedullary involvement
B cell: common - CNS, testes, liver, LN, spleen
T cell: mediastinal mass
Prognosis declines with age

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24
Q

ALL poor risk markers

A

B cell: BCR-ABL
T cell: Early thymocyte precursor (ETP)

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25
ALL management
Induction chemo + TKI if Ph chromosome positive Maintenance therapy for up to 2 years Allogenic SCT: -Ph+ ALL in CR1 -MRD +ve -Relapsed disease
26
BiTE
Bispecific T -cell engaging antibodies Promote elimination of B cell blasts by cytotoxic T cells Blinatumumab (CD19/CD3) for relapsed/refractory disease SE: Neurotoxic (ICANS), CRS
27
CLL
Isolated lymphocytosis Almost always B cells (99%) Immunophenotyping: CD5, CD19 clonal b cells Overexpression of either kappa or lambda light chains
28
Good prognostic markers in CLL
13q deletion
29
Poor prognostic markers in CLL
17q deletion, 11q. Unmutated IGHV genes, ZAP 70 and CD38
30
Indications for treatment in CLL
Autoimmune complications Bone marrow failure - cytopenias Lymphocyte doubling time Disease related symptoms
31
Treatment of CLL
Wait and wait, or treat Venetoclax - inhibits BCL2 (apoptotic protein) Ibrutinib - brutons TKI inhibitor - monotherapy in relapsed/refractory Acalabrutinib - monotherapy in relapsed/refractory Ibrutinib associated with AF and HF, acalabrutinib less so IGHV mutated (without 17p deletion or TP53) = chemo IGHV nonmutated (without 17p deletion or TP53 = ibrutinib With 17p deletion and/or TP53 = targeted therapy with ibrutinib, acalabrutinib or venetoclax
32
MGUS
Non-IgM Serum monoclonal protein <30g/L Bone marrow plasma cells <10% Absence of end-organ damage
33
Systemic AL Amyloidosis
MGUS + Extracellular tissue deposition of fibrils composed of fragments of monoclonal light chains Organs involved Kidney --> nephrotic syndrome, renal failure Cardiac (MAIN DETERMINANT OF PROGNOSIS) --> diastolic dysfunction, increased NT pro BNP GI --> diarrhoea, bleeding risk Skin --> amyloid plaques Macroglossia Diagnosis: positive amyloid staining on congo red stain Management: -SCT -Bortezomib based regimes (Daratumumab, bortezomib, cyclophosphamide, dexamethasone)
34
Multiple myeloma
Mature B cell malignancy of plasma cells -Characterised by plasma cells that secrete monoclonal immunoglobulin detectable in serum/urine Diagnosis: 1. Clonal bone marrow plasma cells >10% 2. Evidence of end-organ damage (CRAB)
35
Prognosis in MM
calculated by internation staging system (ISS) Made up of beta-2-microglobulin and albumin levels
36
Management of MM
SCT if <70 and ECOG ok/co-morbidities Chemoimmunotherapy - VCD 4 cycles then stem cell collection if response Consolidation/maintenance post SCT: thalidomide + alternate day pred RTx for bony lytic lesions in spine/long bones Bisphosphonates - zoledronic acid
37
Risks with thalidomide/lenalidomide
VTE risk -Give low dose aspirin or VTEp
38
Bortezomib
Risk of painful peripheral sensory neuropathy Risk of HSV reactivation --> give prophylactic acyclovir
39
DLBCL
Rapidly enlarging tumour/mass at a single or multiple nodal or extra nodal sites B-symptoms Chemo and radiotherapy CNS prophylaxis is high CNS IPI (risk score) Relapsed/refractory: Salvage chemo +/- ASCT
40
Risk of CNS disease in DLBCL is associated with
Kidney and adrenal disease
41
Burkitt's lymphoma
Common in equatorial Africa and PNG Rapidly growing tumour mass - doubling time 25 hours Diagnosis via biopsy -Complete effacement by atypical lymphoid cells -Starry sky appearance Translocations involving MYC oncogene used for diagnosis Management -Aggressive multi-agent chemo, CNS prophylaxis and TLS prophylaxis
42
Protein associated with aggressive disease in Burkitt's lymphoma
Ki-67 Nuclear protein
43
Follicular lymphoma
Centrocytes and centroblasts BCL2 over expression, CD10 positive Cytogenetics: t(14;18) translocation between IGH and BCL2 genes Chemotherapy if fulfils GELF criteria -Rituximab -Obinutuzumab similar efficacy to rituximab but higher infection risk
44
Waldenstrom's Macroglobulinaemia
Lymphoplasmacytic lymphoma in the bone marrow and IgM monoclonal gammopathy Can present with symptoms related to IgM: -Can act as an autoantibody --> peripheral neuropathy -Precipitate out of the serum at cold temp --> cryoglobulinaemia -Hyperviscosity syndrome -Deposits in GIT --> Malabsorption Or can present with symptoms of infiltration - cytopenias and splenomegaly Diagnosis: IgM paraprotein >10% bone marrow is small lymphocytes
45
Gene mutation in Waldenstrom's Macroglobulinaemia
MYD88 gene mutation in over 90%
46
Management of Waldenstrom's Macroglobulinaemia
PLEX is hyper viscosity syndrome Chemo-immunotherapy
47
Hairy cell leukaemia
Key activating mutation: BRAF V600E Management: Chemo with purine analogues: cladribine
48
Hodgkin lymphoma
Mononuclear Hodgkin cells and multinucleate Reed Sternbeg cells -Drived from mature B cells -Positive for CD30 Management -Early: Abbreviated ABVD + RTx -Advanced: ABVD + IFRT
49
Daratumumab
Anti CD38 antibody for use in relapsed multiple myeloma, as well as first line in patients ineligible for a SCT with bortezomib, melphalan and prednisolone
50
BCL-1 gene
mantle cell lymphoma
51
BCL-2 gene
follicular lymphoma
52
Increased c-MYC
Burkitt's lymphoma
53
Differences between Waldenstroms Macroglobulinaemia and Multiple myeloma
MM has lytic lesions and/or t(11;14) translocation WM bone marrow cells lack CD56 WM has MYC88 mutations MM does not
54
Sickle cell disease
Mutations in 6th position of beta globin - changes glu to val Stiff Hb molecule In low O2 settings or if hypertonic solution is injected, Has polymerises and causes adhesiveness Presentation: Anaemia/haemolysis, acute vaso-oclussive events, asplenia, priapism Pulmonary complications are main cause of morbidity and mortality
55
Management of sickle cell disease
Hydoxyurea - increases HbF and decreases HbS Apheresis every 4-6 weeks L-Glutamine - Increases HbF
56
Thalassaemia complications
Iron overload related heart failure Arrhythmias
57
Alpha thalassaemia subtypes
HbA2 will be low 4 genes total 1 mutated = silent carrier 2 mutated = thalassaemia - HB about 100 3 mutated - HbH disease - Hb about 70-80 4 mutated - thalassaemia major (hydrops fetalis)
58
Beta thalassaemia
Minor, intermedia and major HbA2 will be high (2 alpha chains 2 delta chains) Management -Transfusion support -SCT -Iron chelation therapy Ferritin >2500 associated with high cardiac risk. Aim ferritin <1000. Desferrioxamine can be used
59
Paroxysmal Nocturnal Haemoglobinuria
Somatic mutation in PIG-A gene causes deficiency in some anchor proteins on erythrocyte cell surface - CD55 and CD59 Loss of these proteins allows for complement deposition, causing intravascular haemolysis Associated with bone marrow disorders e.g. aplastic anaemia, MDS, Cause macroscopic haematuria, iron deficiency, increased thrombotic risk esp. large veins e.g. portal veinTra
60
Treatment of PNH
Eculizumab (C5 inhibitor) - decreases haemolytic and thrombotic risk, decreased transfusions, cessation of haemoglobinuria SCT Life-long anticoagulation after first thrombotic event
61
Immune thrombocytopenia purpura
Antibody mediated platelet destruction in liver and spleen F >> M Mucocutaneous bleeding Assoc with AIHA, CLL, autoimmune disease, Hep C, H. pylori
62
ITP management
Observe if plt >30 Pred IVIG more rapid response Splenectomy most effective Romiplostim (TPO receptor agonist) Eltrombopag
63
Gold standard test for HIIT
Serotonin release assay
64
Components of 4T score
Thrombocytopenia Timing of fall (5-14 days) Thrombosis/skin necrosis Other causes of thrombocytopenia not likely
65
Management of HIITS
Cease heparin Anticoagulation with direct thrombin inhibitor (argabatran) or Xa inhibitor (Danaparoid) Avoid warfarin (increased thrombotic risk due to decreased protein C)
66
Thrombotic thrombocytopenia purpura
Pentad: Fever, MAHA, neurological symptoms, renal failure, thrombocytopenia Idiopathic or assoc. with conditions like SLE, pregnancy, drugs, bone marrow transplant Due ADAMTS13 deficiency (inherited or acquired). <10 activity diagnostic Plasmic score used to predict likelihood of ADAMTS13 score being <10%
67
Management of TTP
PLEX FFP if not close to a PLEX centre Steroids Rituximab
68
Drugs associated with TTP
Cyclophosphamide, mitomycin, clopidogrel, quinine
69
G6PD deficiency blood film
Heinz bodies Bite cells Blister cells
70
ST HUS
E.coli 0157 Children > adults Bloody diarrhoea preceding renal failure d.t. glomerular thrombi Abdo pain, dec. urine output, haematuria, confusion, htn, schistocytes Management supportive
71
aHUS
Uncontrolled activation of the alternate complement pathway - hereditary defect or acquired antibodies High risk renal impairment and death Same pentad as TTP but renal failure more common, neuro issues less common Treat with eculizumab, immunosuppression only if acquired version
72
Platelets
Lifespan 7-10 days Regulated by TPO released by the liver - increases with inflammation mediated by IL-6
73
Platelet adhesion
Mediated by vWF via GP Ib/Ix receptor
74
Platelet activation
Platelet binding leads to shape change and granule release (thromboxane A2 and ADP)
75
Platelet aggregation
TXA2 and ADP recruit new platelets to the thrombus Platelets bind to each other via fibrinogen and the GP IIb/IIIa receptor
76
Haemophilia A and B
X-linked recessive Haemophilia A = F8 def = F8 gene (80% of cases) Haemophilia B = F9 def = F9 gene Phenotype depends on factor activity -Severe <1% -Moderate 1-5% -Mild 6-40% Prolonged aPTT Management -Factor replacement - prophylactically or as needed DDAVP in mild cases for minor bleeding/procedures Emacizumab - Monoclonal Ab which binds F9 and F10 - used in mod-severe cases Factor inhibitors can develop after prolonged replacement - Bethesda assay to identify them
77
Acquired Haemophilia A
Autoantibody to F8 Pregnancy, postpartum, malignancy, SLE, RA Haemorrhages into skin, muscle, soft-tissues, mucous membranes Intra-articular haemorrhages uncommon Management -Bypassing agents e.g. novoseven -Immunosuppression -Treat underlying disease
78
Hereditary spherocytosis
1:5000 Northern Europeans 75% autosomal dominant Defects in vertical attachments of the red cell membrane --> destruction in spleen Present with jaundice, cholelithiasis, splenomegaly Complications: haemolytic anaemia, pigment stones, splenomegaly, aplastic crisis
79
Blood film in hereditary spherocytosis
Polychromasia, spherocytes, DAT negative, flow cytometry positive for eosin-5-maleimide (EMA)
80
Management of hereditary spherocytosis
Folate supplementation Splenectomy
81
DIC lab values
Decreased platelets Decreased fibrinogen Increased PT Increased D-dimer
82
Follicular lymphoma cytogenetics
BCL-2 positive t(14;18)
83
CML cytogenetics
t(9;22)
84
Burkitt's lymphoma cytogenetics
C-myc positive t(8;14)

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