Myeloproliferative neoplasm Flashcards
1
Q
what defines/characterizes an MPN?
A
clonal hematopoietic stem cell disease + normal maturation with effective hematopoiesis and extramedullary hematopoiesis + risk for leukemic transformation
2
Q
what are the 7 MPNs
A
BCR-ABL positive CML Polycythemia vera ET Primary myelofibrosis Chronic neutrophilic leukemia Chronic eosinophilic leukemia Mast cell disease
3
Q
what is JAK2’s function?
A
Tyrosine kinase (critical to intracellular signaling for epo, thrombopoetin, IL3, G-CSF, granulocyte macrophage colony-stimulating factor)
4
Q
MPN’s in which JAK2 mutation is common
A
PV (99%)
ET (60%)
PMF (55%)
5
Q
other mutations implicated in ET and PMF
A
MPL
CALR
6
Q
What thrombophilic condition should raise the suspicion of a JAK2 mutation?
A
Budd-Chiari syndrome
7
Q
Sites of extramedullary hematopoiesis
A
Widespread but most common sites = spleen, liver, and lymph nodes
8
Q
What does MPL gene encode for?
A
TPO receptor
