WBC Part 7 Flashcards
Myelodysplastic Syndromes (MDS) are abnormalities in what that result in what
clonal multipotent stem cell abnormality resulting in ineffective hematopoiesis with dysplasia
what type of patient would one expect to see myelodysplastic syndrome in
older patient with refractory pancytopenia or macrocyric anemia
someone who had radiation or chemo 2-7 years prior
what does one see in the peripheral blood of a patient with mylelodysplastic syndromes (MDS)
pancytopenia with macrocytic anemia
dysplastic neutrophils
what does one see in the bone marrow of a patient with mylelodysplastic syndromes (MDS)
packed marrow
trilineage hyperplasia with dysplasia in at least one line
increased storage iron
blasts less than 20%
ineffective hematopoiesis with dysplasia is seen in what
myelodysplastic syndromes
mylelodysplastic syndromes (MDS) prognosis depends on what
% blasts
amount of dysplasia
complex cytogenetics
therapy related
what is the most common cytogenetic change seen in mylelodysplastic syndromes (MDS)
monosomy (5 or 7)
del5q, del7q, del20q
trisomy 8
chromosomal abnormalities seen in about 50% of MDS
Myelodisplastic syndromes are a group of disorders, what are the high and low grade disorders
Refractory Anemia (low grade) Refractory Anemia with Excess Blasts (high grade)
low grade MDS is diagnosed how
exclusion
MDS can progress to what
AML
how are myelodisplastic syndromes treated
young patient- allogenic BM treatment
older patient- supportive therapy
Chronic Myeloproliferative Diseases (CMPD) is characterized by what kind of hematopoiesis
effective hematopoiesis just too much of it
can give rise to extramedulary hematopoiesis
Chronic Myeloproliferative Diseases (CMPD) have what associated cellularity in the BM
hypercellularity with associated increased peripheral sounds
no dysplasia
What conditions are Chronic Myeloproliferative Diseases (CMPD)
Chronic Myeloid Leukemia (CML) Polycythemia Vera (PV) Essential Thrombocytopenia (ET) Primary Myelofibrosis Chronic Eosinophilic Leukemia/Hypereosinophilic Syndrome
Chronic Myeloid Leukemia (CML) is what mutation and in what type of cell
pluripotent stem cell
t(9;22) BCR-ABL fusion gene
how can one ID the BRC-ABL gene
FISH or PCR
what is seen in the peripheral blood of CML patient
leukocytosis and neutrophilic with left shift
eosinophilia and basophilia
thrombocytosis in 50%
what is seen in the BM of a CML patient
packed marrow with prominent granulocytic hyperplasia
many small megakaryocytes
what happens to CML if not treated
slow progression to AML/ALL
what drug inhibits BCR-ABL kinase activity
Gleevac
in order to diagnose polycythemia vera what must be ruled out
secondary polycythemia
polycythemia vera is an issue with what cells and due to what mutation in 95% of cases
multipotent stem cell
JAK-2 mutation
what is seen in the peripheral blood of a polycythemia vera patient
decreased serum erythropoietin
erythrocytosis, leukocytosis, thrombocytosis
basophilia
what is seen in the bone marrow of polycythemia vera patient
hyper cellular with trilineage
no dysplasia
minimal reticulin fibrosis and EMH (late stage can get it)
what are the clinical feature related to polycythemia vera
late middle age
symptoms related to vascular consequence of increased RBC mass
abnormal blood flow on venous side
headache, dizziness, paresthesia
25% Polycythemia vera patients present with what
bleeding and thrombosis
(DVT, MI, hepatic, portal and mesenteric veins
ulcers and hemorrhage in GI)
how does one treat polycythemia vera
phlebotomy to keep hematocrit below 45%
erythrocytosis with decreased serum erythropeosis is seen in what
polycythemia vera
essential thrombocytopenia is diagnosed how
diagnosis of exclusion (rule out reactive thrombocytosis and other CMPD)
essential thrombocytopenia is characterized by what
platelet count of over 600k with abnormal large platelets
what mutation is seen in about 50% of essential thrombocytopenia
JAK-2
what are the clinical features of essential thrombocytopenia
asymptomatic
bleeding and thrombosis (from dysfunctional and numerous platelets)
what is seen in the BM of essential thrombocytopenia
hyper cellular with increased and huge megakaryocytes
mild increased reticulin fibrosis
primary myelofibrosis leads to an eventual increase in what resulting in what
increased reticule and collagen fibrosis resulting in spent marrow and extra medullary hematopoiesis (ineffective so cytopenias persist)
in Primary Myelofibrosis what is released and by what cells
neoplastic megakaryocytes release PDGF and TGF-beta (fibroblast mitogens)
50% of primary myelofibrosis is due to what mutation
JAK-2
what are the stages of primary myelofibrosis
pre-fribrotic and fibrotic
what is the difference between the pre-fibrotic and fibrotic stages of primary myelofibrosis
pre-fibrotic is hypercellular in marrow but fibrotic is hypocelular with fibrosis replacing cells
(atypical clusters of megakaryocytic seen both)
what are the clinical features of primary myelofibrosis
over 60 w/ fatigue w/ progressive anemia, early satiety with splenomegaly and symptoms similar to PV and ET
what is seen in chronic eosinophilic leukemia/hypereosinophilic syndrome
leukocytosis and absolute eosinophilia
eosinophilic leukemia/hypereosinophilic syndrome is due to what
fusion of PDGFRalpha and FIP1L1 at 4q12
patients with eosinophilic leukemia/hypereosinophilic syndrome respond to what
Gleevac
extramedullary hematopoiesis and left upper quadrant pain/fullness are clinical features of what
CML
