Haem-onc Flashcards
what gene is found to mutated in essential thrombocytosis?
- CALR (calreticulin) is a more commonly found gene mutation in ET in around 20% of - JAK-2 - most common
what is the tx of essential thrombocytosis?
- hydroxyurea (hydroxycarbamide) is widely used to reduce the platelet count
- interferon-α is also used in younger patients
- low dose aspitin
what is the most common infection agent in neutropenic sepsis?
coagulase-negative, Gram-positive bacteria are the most common cause, particularly Staphylococcus epidermidis
what carcinogen is associated with hepatocellular carcinoma?
aflatoxin
what cancer does nitrosamine cause?
oesophagel and gastric cancer
what tx increases the live birth rate in antiphospholipid syndrome?
- low-dose aspirin should be commenced once the pregnancy is confirmed on urine testing
- low molecular weight heparin once a fetal heart is seen on ultrasound. This is usually discontinued at 34 weeks gestation
what is the tx for chronic lymphcytic leukaemia with patients with intact TP53 and with mutated IGHV?
CLL - treatment: Fludarabine, Cyclophosphamide and Rituximab (FCR)
Mutations of TP53 are associated with a poor response to chemo-immunotherapy (e.g. FCR) and warrant the use of novel agents such as Bruton tyrosine kinase inhibitors (e.g. ibrutinib), or BCL2 inhibitors (e.g. venetoclax)
what is the tx for sickle cell anaemia?
Hydroxycarbamide, or hydroxyurea, increases the concentration of foetal Hb and has been shown to reduce the frequency of painful episodes and the risk of life-threatening complications.
what are the different cytotoxic agents and their mode of action?
Cyclophosphamide, Ciclosporin, Cispltin = Cross linking
Bleomycin = blows DNA = degrades formed DNA
Topotecan, Irenotecan = Topoisomerase inhibition
HydroxyuRea = Ribonucleotide Reductase inhibition
what are the causes of methaemoglobinaemia?
Congenital causes
- haemoglobin chain variants: HbM, HbH
NADH - methaemoglobin reductase deficiency
acquired causes:
- drugs - sulphonamides, nittreates, dapsone, sodium nitroprusside, primaquine
DaPSoNe:
Dapsone
Primaquine
Sulfonamides
Nitrates
what is the mx of methaemoglobinaemia?
- NADH methaemoglobinaemia reductase deficiency: ascorbic acid
- IV methylthioninium chloride (methylene blue) if acquired
how do you differntiate bw myeloma and waldenstrom’s macroglobulinaemia?
Bony lesions with no Organomegaly: Myeloma
Organomegaly with no bony lesions: Waldenstroms
Benz Jones can be positive in both
what are the sx of waldenstrom’s macroglobulinaemia?
lymphoplasmacytoid malignancy
- systemic upset: weight loss, lethargy
- hyperviscosity syndrome e.g. visual disturbance : the pentameric configuration of IgM increases serum viscosity
- hepatosplenomegaly
- lymphadenopathy
what is the typical presentation of methaemoglobinaemia?
respiratory distress and decreased oxygen saturations despite a normal pO2 on blood gas and respiratory examination.
what does high reticuloytes suggest?
haemolysis or bleeding
what are the different types of primary immunodeficiencies?
Sh*tty B Cells: (B Cell Disorders)
S: Selective IgA Deficiency
B: Brutons
C: CVID
WASH your Bs and Ts: Combined B and T Disorders:
W: Wiskott Aldrich Syndrome
A: Ataxic Telengectesia
S: SCID
H: Hyper IgM Syndromes
DiGeorge is T cell
And the rest Neutrophil Function
what are the types of cryogobulinaemia?
type 1 - monoclonal - IgG and IgM (associated with multiple myeloma, waldenstrom’s macroglbulinaemia)
type 2 - mixed monoclonal and polyclonal (associated with RF and conditions: HCV, RA and sjogren’s lymphoma)
type 3: polyclonal (associated with rheumatoid arthritis, sjogren’s)
how do you differntate type 1 cryoglobulinaemia from other types?
raynayd’s only seen in type 1
what transformation is common in polycytheamia rubra vera?
5-15% of patients progress to acute myeloid leukaemia
5-15% of patients progress to myelofibrosis
what chromosomes are lymphomas associated with?
(11, 14) -> Mantle Cell Lymphome
(8; 14) B(8)urkitt lymphome
(14; 18) follicular lymphoma - > 18 alphabet! - increased BCL-2 transcription
how is haemorrhagic cystitis caused by cylocphosphamide reduced?
Hydration and Mesna
A metabolite of cyclophosphamide called acrolein is toxic to urothelium
mesna binds to and inactivates acrolein helping to prevent haemorrhagic cystitis
what is the tx of sickle cell crisis mx?
- analgesia e.g. opiates
- rehydrate
- oxygen
- consider antibiotics if evidence of infection
- blood transfusion
- exchange transfusion: e.g. if neurological complications
what is the difference between MGUS and myeloma?
- normal immune function
- normal beta-2 microglobulin levels
- lower level of paraproteinaemia than myeloma (e.g. < 30g/l IgG, or < 20g/l IgA)
- stable level of paraproteinaemia
- no clinical features of myeloma (e.g. lytic lesions on x-rays or renal disease)
how does desmopressin work in vWF?
desmopressin (DDAVP): raises levels of vWF by inducing release of vWF from Weibel-Palade bodies in endothelial cells
