MPN/MDS Flashcards
MDS
myelodysplastic syndrome
Characterize MDS
ineffective hematopoiesis - cytopenias
increased risk to transform to AML (replaces marrow)
Secondary MDS (cause, time frame, genetics)
t-AML
2-8 years after alkylating agents/ionizing radiation - complex karyotype with whole/partial chr5
When to suspect MDS
2 or more lineage cytopenia + older,
MDS Diagnosis (3)
morphological evidence of dysplasia
Increased myeloblast, less than 20% of blood/marrow cell
Presence of clonal cytogenetics abnormality
Morphologic evidence of Dysplasia
10%+ of cell in one linage –> dysplastic = dyshematopoiesis
Cytogenetic evidence of MDS
- complex karyotype with whole or partial deletions of chromosomes 5 and/or 7
- isolated deletion 5q
- trisomy 8
- others
Low grade MDS (2)
myeloblasts not increased in frequency < 5% marrow/2% perperipheral
High grade MDS (2)
Myeloblasts increased, less than 20% (5-19% marrow, 3-19% blood cell)
2 types of low grade MDS
Refractory cytopenia with unilineage dysplasia (RCUD)
Refractory cytopenia with multilineage dysplasia (RCMD)
# lineages
2 types of high grade
refractory anemia with excess blast 1 (RAEB1)
Refractory anemia with excess blasts 2 (RAEB2)
#% myeloblastes
List 4 myeloproliferative neoplasms
chronic myelogenous leukemia (CML) Polycythemia vera (PV) Primary myelofirosis (PMF) Essential Thrombocythemia (ET)
Prognosis of RCUD and RCMD
RCUD: good - median survival > 5 years, risk –> AML 2% after 5 years
RCMD - poor - median survival 2.5 years, 10% AML in 2 yrs
Prognosis of RAEB1 and RAEB2
RAEB2 - med survival 16 mo; AML - 25%
RAEB2 - Med survival 9 mo, 33% to AML
MPN vs MDS
MPN - increase production of normal cell
MDS - ineffective hematopoiesis - weird cells
MPN pt’s age
50-70 y/o
CML genetics
BCR-ABL1 t(9;22)(q34;q11.2)
CML chronic phase
slight blast elevate, neutrophilia, increase baso/plt Hypercellular marrow (granulocytic hyperplasia)
CML Blast phase
“acute” >20% blasts in marrow/blood
70/30% myeloblasts/lymphoblasts
CML diagnosis tools
cytogenetics - karyotypes
Fish BCR-ABL fusion probes
RT-PCR of BCR-ABL mRNA transcriptis
CML Treatments
PTKI - protein tyrosine inhibitors
Gleevac/Imatinib
Dasatinib (2nd gen)
PV = ?
polycythemia vera, increase RBC mass
PV phases and description
Polycythemic stage - increase peripheral blood cell counts
Spent phase: Post PV myelofibrosis - marrow fibrosis, decrease peripheral blood count
PV complications
Thrombosis
mesenteric veins, portal veins, splenic veins
PV treatment
serial phlebotomy, asprin therapy, chemo
PMF = ?
Primary myelofibrosis - granulocytic/megakaryocytic hyperplasia (NOT RBC)
PV genetics
JAK2 V617F
PMF genetics
JAK2 MPL and CALR
PMF 2 stages and major differences
Prefibrotic stage - hypercellular, neutrophilia, increased plt, large cluster megakaryocytes
Fibrotic stage - Intramedullary extramedullary hematopoiesis, leukoerythroblasts, enlarged spleen
PMF main cause of death through…
Bone marrow failure due to (secondary) fibrosis
ET = ?
Thrombocytosis, essential thrombocythemia
NO granulocytic hyperplasia
ET genetics
JAK2 MPL and CALR
PMF survival
5 year - because late findings
ET survival and common death
10-15+ years, clot
ET symptoms
Transient ischemic attacks, digital ischmeia, arterial/venous thrombosis (less common than PV)
NO splenomegaly
Primary MDS age/incident
70, 3-5/100k
