Heamatology & Oncology Flashcards
What is the best screening for herediatry angiooedema
C4 levels
Hereditary angioedema (HAE) is a rare autosomal dominant condition caused by a deficiency or dysfunction of the C1 inhibitor protein (C1-INH
his leads to increased activation of the complement and contact systems, resulting in excessive release of bradykinin, which causes angioedema. The most appropriate screening test for HAE is serum C4 levels, as they are typically low in patients with this condition due to increased consumption during uncontrolled activation of the complement system. If serum C4 levels are found to be low, further testing for serum C1-INH levels and function should be performed to confirm the diagnosis.
Howell-Jolly bodies
Howell-Jolly bodies are the finding of red blood cell nuclear proteins with red blood cells which are normally removed by the spleen. As such Howell-Jolly bodies are seen in patients who have undergone splenectomy or have function asplenia (i.e from sickle cell disease).
Wiskott-Aldrich syndrome
ombination of frequent infections, eczema and thrombocytopenia are characteristic of the Wiskott-Aldrich syndrome, which is caused by an abnormality in the WASP gene.
Sideroblastic anaemia ink stain
Sideroblastic anaemia when stained with Perl’s stain shows ring sideroblasts
perl (sideroblastic) rings
Thrombotic thrombocytopenic pupura pentad
TTP presents with a pentad of fever, neuro signs, thrombocytopenia, haemolytic anaemia and renal failure
For which - ITP or TTP is plasma exchange a treatment
TTP
TTP test
ADAMTS13
Pathogenesis of thrombotic thrombocytopenic purpura (TTP)
abnormally large and sticky multimers of von Willebrand’s factor cause platelets to clump within vessels
in TTP there is a deficiency of ADAMTS13 (a metalloprotease enzyme) which breakdowns (‘cleaves’) large multimers of von Willebrand’s factor
overlaps with haemolytic uraemic syndrome (HUS)
CLL - treatment
Fludarabine, Cyclophosphamide and Rituximab (FCR)
or if mutation on TP53 : ibrutinib
For fit patients with intact TP53 and with mutated IGHV, chemoimmunotherapy with FCR remains an acceptable initial therapy. 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).
Myelofibrosis blood film
tear-drop poilikocytes
‘Pencil’ poikilocytes are usually associated with
iron deficiency anaemia
JAK2 mutation associated with
JAK2 mutation is seen in essential thrombocytopenia and polycythaemia, both of these conditions can develop into myelofibrosis (therefore you also have JAK2 mutation in myelofibrosis.
philideliphia chromosome associated with good/bad prognosis in what
Philadelphia translocation, t(9;22) - good prognosis in CML, poor prognosis in AML + ALL
It results from a reciprocal translocation between chromosome 9 and 22, which leads to the formation of BCR-ABL fusion gene that encodes for a tyrosine kinase protein with unregulated activity. This protein plays a crucial role in cell proliferation and survival, contributing to the pathogenesis of leukaemia. The presence of this Philadelphia chromosome is associated with a worse prognosis in acute lymphoblastic leukaemia (ALL), as it often leads to resistance against traditional chemotherapy agents.
Cryoglobulinaemia
Type I: Monoclonal, associated with hematologic cancers.
Type II: Mixed (monoclonal and polyclonal), often linked to hepatitis C and autoimmune diseases.
Type III: Polyclonal, similar associations to Type II but typically less severe.
Essential thrombocytosis metuations
JAK2 or CALR
If its not Jack (JAK), its Carl. (CALR)
classic clinical sign of chronic lead poisoning
Blue lines on gum margin, also known as Burton’s line
Systemic mastocytosis
Systemic mastocytosis results from a neoplastic proliferation of mast cells
Features
urticaria pigmentosa - produces a wheal on rubbing (Darier’s sign)
flushing
abdominal pain
monocytosis on the blood film
Diagnosis
raised serum tryptase levels
urinary histamine
xThese are awful, but worth a go:
CycLophosphomide = Cross Linking DNA, C also for cystitis (haemorrhagic)
Bleomycin = blow up mycin = blow (destroy/degrade) DNA, and causes lung
fibrosis (you blow with air from your lungs)
DoxoRUBYcin = rubies are strong and stable-> stabilise DNA topoisomerase.
Rubies are red -> like the heart = cardiomyopathy
Vincristine = Vin walks on crystals but can’t feel it because of his peripheral
neuropathy. He also can’t form microtubules. Vin is a ‘can’t’ man.
DoceTAXel = tax man comes to prevent your fortune/microtubules and so you
have less free tubulin
What are the three features of Wiskott-Aldrich syndrome?
immunodeficiency, thrombocytopenia, and eczema.
X linked recessive so more common in men
Factor V Leiden is caused by what defect
Activated Protein C resistance
A mutation in the factor V gene makes the pro-coagulant factor V less sensitive to inactivation by activated protein C, thus leading to clot formation.
Dohle bodies
The presence of Dohle bodies in white cells supports the diagnosis of a leukaemoid reaction. These are remnants of rough endoplasmic reticulum seen in activated or toxic granulocytes and are not typically present in CML.
initial treatment of choice in CLL
patients who have no indications for treatment are monitored with regular blood counts
fludarabine, cyclophosphamide and rituximab (FCR) has now emerged as the initial treatment of choice for the majority of patients
ibrutinib may be used in patients who have failed a previous therapy
ADAMTS13 enzyme
This is a test used in the diagnosis of thrombotic thrombocytopenic purpura. This causes intravascular haemolysis
management of Von Willebrand’s disease
Desmopressin
Desmopressin works by raising the vWF level and acts as a haemostatic agent.
Chediak-Higashi syndrome
This immune deficiency syndrome is characterized by partial albinism and peripheral neuropathy
Higashi the warrior had white hair( partial albinism) and fought with smouldering bricks because he didn’t feel pain ( peripheral neuropathy)
X-linked congenital agammaglobulinaemia i
This can be difficult to differentiate clinically from CVID but typically B cells are normal in CVID
Medication given to prevent heamorrhagic cystitis with cyclophosphaamide Tx
Mesna
First line treatment for CML
Imatinib
Aprepitant MoA
Aprepitant is an anti-emetic which blocks the neurokinin 1 (NK1) receptor. It is a substance P antagonists (SPA). It is licensed for chemotherapy-induced nausea and vomiting (CINV) and for prevention of postoperative nausea and vomiting.
Hodgkin’s lymphoma - most common type
nodular sclerosing
What is the most useful marker of prognosis in myeloma?
B2 micrroglobuli
Rasburicase MoA
a recombinant version of urate oxidase, an enzyme that metabolizes uric acid to allantoin
Basophillic stippling on blood film
lead poisioning
1.Cyclin D1-IGH gene translocation = mantle cell lymphoma (and also multiple myeloma)
- TEL-JAK2 gene translocation = ALL / CML
- Bcl-2 gene translocation = Non-hodgkin lymphoma
- c-myc gene translocation = Burkitt’s lymphoma
- BCR-Abl1 gene translocation = CML
1.Cyclin D1-IGH gene translocation = mantle cell lymphoma (and also multiple myeloma)
- TEL-JAK2 gene translocation = ALL / CML
- Bcl-2 gene translocation = Non-hodgkin lymphoma
- c-myc gene translocation = Burkitt’s lymphoma
- BCR-Abl1 gene translocation = CML
In idiopathic thrombocytopenic purpura what are the autoantibodies most commonly directed at
GlycopoteinIIb/IIIa
(ABC)iximab easy as 123 (Glycoprotein IIb/IIIc) or as simple as ITP
