MPN/MDS

Question 1

MDS

Answer 1

myelodysplastic syndrome

Question 2

Characterize MDS

Answer 2

ineffective hematopoiesis - cytopenias

increased risk to transform to AML (replaces marrow)

Question 3

Secondary MDS (cause, time frame, genetics)

Answer 3

t-AML

2-8 years after alkylating agents/ionizing radiation - complex karyotype with whole/partial chr5

Question 4

When to suspect MDS

Answer 4

2 or more lineage cytopenia + older,

Question 5

MDS Diagnosis (3)

Answer 5

morphological evidence of dysplasia
Increased myeloblast, less than 20% of blood/marrow cell
Presence of clonal cytogenetics abnormality

Question 6

Morphologic evidence of Dysplasia

Answer 6

10%+ of cell in one linage –> dysplastic = dyshematopoiesis

Question 7

Cytogenetic evidence of MDS

Answer 7

• complex karyotype with whole or partial deletions of chromosomes 5 and/or 7
• isolated deletion 5q
• trisomy 8
• others

Question 8

Low grade MDS (2)

Answer 8

myeloblasts not increased in frequency < 5% marrow/2% perperipheral

Question 9

High grade MDS (2)

Answer 9

Myeloblasts increased, less than 20% (5-19% marrow, 3-19% blood cell)

Question 10

2 types of low grade MDS

Answer 10

Refractory cytopenia with unilineage dysplasia (RCUD)
Refractory cytopenia with multilineage dysplasia (RCMD)
# lineages

Question 11

2 types of high grade

Answer 11

refractory anemia with excess blast 1 (RAEB1)
Refractory anemia with excess blasts 2 (RAEB2)
#% myeloblastes

Question 12

List 4 myeloproliferative neoplasms

Answer 12

chronic myelogenous leukemia (CML)
Polycythemia vera (PV)
Primary myelofirosis (PMF)
Essential Thrombocythemia (ET)

Question 13

Prognosis of RCUD and RCMD

Answer 13

RCUD: good - median survival > 5 years, risk –> AML 2% after 5 years
RCMD - poor - median survival 2.5 years, 10% AML in 2 yrs

Question 14

Prognosis of RAEB1 and RAEB2

Answer 14

RAEB2 - med survival 16 mo; AML - 25%

RAEB2 - Med survival 9 mo, 33% to AML

Question 15

MPN vs MDS

Answer 15

MPN - increase production of normal cell

MDS - ineffective hematopoiesis - weird cells

Question 16

MPN pt’s age

Answer 16

50-70 y/o

Question 17

CML genetics

Answer 17

BCR-ABL1 t(9;22)(q34;q11.2)

Question 18

CML chronic phase

Answer 18

slight blast elevate, neutrophilia, increase baso/plt
Hypercellular marrow (granulocytic hyperplasia)

Question 19

CML Blast phase

Answer 19

“acute” >20% blasts in marrow/blood

70/30% myeloblasts/lymphoblasts

Question 20

CML diagnosis tools

Answer 20

cytogenetics - karyotypes
Fish BCR-ABL fusion probes
RT-PCR of BCR-ABL mRNA transcriptis

Question 21

CML Treatments

Answer 21

PTKI - protein tyrosine inhibitors
Gleevac/Imatinib
Dasatinib (2nd gen)

Question 22

PV = ?

Answer 22

polycythemia vera, increase RBC mass

Question 23

PV phases and description

Answer 23

Polycythemic stage - increase peripheral blood cell counts

Spent phase: Post PV myelofibrosis - marrow fibrosis, decrease peripheral blood count

Question 24

PV complications

Answer 24

Thrombosis

mesenteric veins, portal veins, splenic veins

Question 25

PV treatment

Answer 25

serial phlebotomy, asprin therapy, chemo

Question 26

PMF = ?

Answer 26

Primary myelofibrosis - granulocytic/megakaryocytic hyperplasia (NOT RBC)

Question 27

PV genetics

Answer 27

JAK2 V617F

Question 28

PMF genetics

Answer 28

JAK2 MPL and CALR

Question 29

PMF 2 stages and major differences

Answer 29

Prefibrotic stage - hypercellular, neutrophilia, increased plt, large cluster megakaryocytes Fibrotic stage - Intramedullary extramedullary hematopoiesis, leukoerythroblasts, enlarged spleen

Question 30

PMF main cause of death through...

Answer 30

Bone marrow failure due to (secondary) fibrosis

Question 31

ET = ?

Answer 31

Thrombocytosis, essential thrombocythemia | NO granulocytic hyperplasia

Question 32

ET genetics

Answer 32

JAK2 MPL and CALR

Question 33

PMF survival

Answer 33

5 year - because late findings

Question 34

ET survival and common death

Answer 34

10-15+ years, clot

Question 35

ET symptoms

Answer 35

Transient ischemic attacks, digital ischmeia, arterial/venous thrombosis (less common than PV) NO splenomegaly

Question 36

Primary MDS age/incident

Answer 36

70, 3-5/100k