Myeloproliferative neoplasm Flashcards
myeloproliferative neoplasm
clonal HSC disorders
high level proliferation, as well as capacity to differentiate to mature (a huge number of matured cells)
How does BCR-ABL 1 differentiate MPN subtypes?
BCR-ABL1 +ve: chronic myeloid leukaemia (over production of granulocytes - philadelphia chromosome)
Features common to MPN?
- asymptomatic
Increased celllar utrnover (high metabloic state)
Splenomegaly
Marrow failure
Thrombosis
What would you see in BCR ABL 1 positive CMLs?
What are the three phases of CML?
Chronic
Accelerated
Blastic
Philadephia chromosome is a hallmark of some CML, what is it?
the defective chromosome 22 after its translocation with chromosome 9
this results in a new gene - BCR ABL 1
What is Imatinib?
it is a tyrosine kinase inhibitor
BCR ABL1 gene creates a tyrosine kinase inhibitor
Example of targeted therapy in CML
What would you see in BCR ABL 1 negative CMLs?
PV, ET, PMF
True vs Pseudo polycythaemia
True: genuine increase in RBC mass after centrifuge
Pseudo: the faulty seeming raise is due to low plasma volume (eg in case of diuretics)
What are clinical features of PV?
In addition to common features
Blood viscosity in PV would be raised, but not plasma viscosity
aquagenic puritis
JAK2 genes
it is a kinase
JAK2 mutations present in over 95% of these patients
abnormal signalling leads to activation of erythropoiesis evne in absence of true stimulation
PV treatment?
ET?
uncontrolled production of abnormal platelets
at very severe state, causes acquired vWF disease, causing bleeding counterintuitively
What are causes of reactive thrombocytosis (which is not ET)
Blood loss, inflammation, malignancy, iron ddeficiency
ET treatment?
Aspirin reduce thrombocytotic risk
control over production of cells in bone marrow
