Myeloproliferative neoplasms

Question 1

Types of myeloproliferative neoplasms

Answer 1

Chronic myeloid leukemia (CML)
Polycythemia vera
Essential thrombocythemia
Primary myelofibrosis

Question 2

Myeloproliferative neoplasm associated with Philadelphia chromosome

Answer 2

CML

Question 3

Translocation associated with CML

Answer 3

t(9;22)(q34;q11)
BCR-ABL
truncated chromosome 22
Ph chromosome

Question 4

Routinely used for monitoring response to therapy in CML

Answer 4

RT-PCR

Question 5

Generally age of CML

Answer 5

40-60 years

Question 6

Common symptoms of CML

Answer 6

Mild to moderate anemia
Weight loss and anorexia
Splenomegaly

Question 7

Less common symptoms of CML

Answer 7

Hyperuricemia –> gout
Platelet dysfunction –> bruising and bleeding

Question 8

Three phases of CML

Answer 8

Chronic phase
Accelerated phase
Blast crisis

Question 9

Increasing spleen size and/or resistance to therapy in CML

Answer 9

Blast crisis

Question 10

Progression of blast crisis in CML

Answer 10

70% develop AML
30% develop B cell ALL

Question 11

Characteristics of accelerated phase of CML

Answer 11

Increasing basophils
Thrombocytopenia
Myeloblasts

Question 12

Characteristics of peripheral smear in CML

Answer 12

High WBC with immature neutrophils beyond blast cell stage

Question 13

Characteristics of bone marrow histology in CML

Answer 13

Hypercellular
Increased granulocytic precursors, eosinophils, and megakaryocytes with micromegakaryocytes

Question 14

Mutation in polycythemia vera

Answer 14

Point mutation in JAK2

Question 15

Blood characteristics in polycythemia vera

Answer 15

Increased RBC mass
HCT >60%
Increased Hgb
Hyperviscosity and hypervolemia

Question 16

Pt presentation in polycythemia vera

Answer 16

HA
Dizziness
HTN
Blurred vision
Plethoric and cyanotic
Splenomegaly

Question 17

Marrow biopsy in polycythemia vera

Answer 17

Hypercellular
Panmyelosis
Increased megakaryocytes with frequent hyperlobated forms

Question 18

Possible progression of polycythemia vera

Answer 18

Myelofibrosis (30%)
AML (5%)

Question 19

Activating point mutations in essential thrombocythemia

Answer 19

JAK2 (50-60%)
CALR (30%)
MPL (5-10%)

Question 20

Causes of reactive thrombocytosis

Answer 20

Bleeding
Inflammatory disorders
Iron deficiency

Question 21

Clinical features of essential thrombocythemia

Answer 21

Older age
Thrombotic complications
Gangrene
Erythromelalgia

Question 22

Blood smear in essential thombocythemia

Answer 22

Increased platelets
Abnormally large platelets

Question 23

Peripheral smear in primary myelofibrosis

Answer 23

Tear drop cells/dacrocytes
Variable immature myeloid cells
Nucleated RBCs

Question 24

Marrow biopsy in primary myelofibrosis and stain

Answer 24

H&E stain
Extensive fibrosis with collagen fibers

Question 25

Mutations associated with primary myelofibrosis

Answer 25

Activating JAK2, CALR, or MPL

Question 26

Pathogenesis of primary myelofibrosis

Answer 26

Increased secretion of TGF-beta from marrow cells leads to fibrosis

Question 27

Possible progression of primary myelofibrosis

Answer 27

AML (10-20%)

Question 28

Clonal disorders of hematopoietic stem cells

Answer 28

Myelodysplastic syndromes

Question 29

Clinical features of myelodysplastic syndromes

Answer 29

Refractory anemia Infections Abnormal bleeding manifestations

Question 30

Neutrophil changes in myelodysplastic syndromes

Answer 30

Abnormal nuclear chromatin condensation Pseudo-Pelger-Huet cells - bilobed nuclei Hypo-granularity

Question 31

Erythroid cell changes in myelodysplastic syndromes

Answer 31

Megaloblastic change Dyserythropoiesis Ringed sideroblasts

Question 32

Megakaryocyte changes in myelodysplastic syndromes

Answer 32

Micromegakaryocytes with single hypolobated nuclei Megakaryocytes with multiple separated nuclei

Question 33

Cytogenic abnormalities in myelodysplastic syndrome

Answer 33

Monosomies 5 and 7 -5q -7q -20q +8

Question 34

Outcomes of myelodysplastic syndromes

Answer 34

Transform to AML Medial survival of 9-29 months