What does the BCR-ABL1 fusion protein do?
constitutive activation of several growth pathways
Who gets secondary erythrocytosis?
smokers; people with chronic hypoxia, certain hemoglobin disorders
What is plethora?
dusky, reddish skin
How is MDS diagnosed?
at least 1 persistent cytopenia; evaluate bone marrow and chromosomes
What is CML?
a hematopoietic stem cell disorder assoc. with BCR-ABL1 gene fusion; usually neutrophilic leukocytosis
How is CML diagnosed?
presence of BCR-ABL1 via cytogenetics, FISH, or RT-PCR of mRNA
Which disease is indolent?
Why does hepatomegaly occur in MPN?
Most cases of PV contain the ____ mutation.
PMF eventually progresses to the ____ stage, in which the bone marrow has reticulin fibrosis, the peripheral blood has leukoerythroblastosis, and other organs enlarge because of extramedullary hematopoiesis.
How is ET diagnosed?
incidentally bc of increased platelet counts
What is the incidence rate of CML? Avg. age at diagnosis?
What is the outcome of CML?
What is ET?
an MPN characterized by sustained thrombocytosis and no granulocytic hyperplasia in the marrow
What does PMF stand for?
What are paresthesias?
In the prefibrotic stage of PMF, the marrow is hypercellular, showing a _____ and _____ proliferation.
What is the prognosis of PMF? Survival?
poor if diagnosed in fibrotic stage- median survival 5 years
What is the prognosis of ET?
good; survival 10-15 years or more; an indolent disease
What is RC-UD?
cytopenia of the one of the various lineages (ie anemia, neutropenia)
In the ____ stage of PV, peripheral blood cell counts are increased.
What does MDS stand for?
What are the 2 broad clinical scenarios of MDS?
1. 1a/idiopathic 2. 2a/therapy related (t-MDS)
What does PV stand for?
What karyotypes can be seen in MDS?
monosomy or deletion of 5 or 7; trisomy 8
What are MPNs?
proliferations of 1+ myeloid lineages
The JAK2 mutation can be found in ____ of cases of PMF.
What is the treatment for CML?
PTKIs: imatinib (Gleevac) and dasatinib
What would be found in a marrow biopsy of CML in the chronic phase?
hypercellularity; granulocytic hyperplasia; small megakaryocytes with round, non-lobated nuclei; no dysplasia
Once MDS has been diagnosed, it is classified as either ____ or ____.
low grade; high grade