Myelodysplastic Syndrome and Myeloproliferative Neoplasms

Question 1

Clonal stem cell disorders with defective maturation and ineffective hematopoiesis

Answer 1

Myelodysplastic Syndrome (MDS)

Question 2

Myelodysplastic Syndrome (MDS)

What lab values are associated?

What would the bone marrow look like?

Answer 2

Myelodysplastic Syndrome (MDS)

pancytopenia

hypercellular bone marrow

Question 3

a deletion of chromosome 5q can lead to what syndrome?

Answer 3

Myelodysplastic Syndrome (MDS)

you might also see

+8 (trisomy 8)

-7 (del 7q)

Question 4

These are characteristic cells found in bone marrow aspirate in a patient with myelodysplasia

Answer 4

Ringed sideroblasts are erythroid progenitors seen in myelodysplasia

Question 5

These cells are characteristicly found in a periphereal blood smear of a patient with?

Answer 5

Pseudo-Pelger-Huet cells are neutrophils with only 2 nuclear lobes instead of the normal 3-4.

they are seen in the peripheral blood smear of a patient with Myelodysplasia

Question 6

What genetic variation is associated with a better prognosis in MDS?

Answer 6

isolated deletions in 5q is assciated with a better prognosis in MDS.

It has a better response to thalidomide

Question 7

Chronic Myeloid Leukemia (CML)

mutation:

Answer 7

Chronic Myeloid Leukemia (CML)

t(9;22)

BCR-ABL1 known as the Philadelphia chromosome

Question 8

Chronic Myeloid Leukemia (CML)

LAP and NAP lab values will be (low/high)?

Answer 8

Leukocyte alkaline phosphate or neutrophil alkaline phosphate levels will be

LOW

Question 9

Chronic Myeloid Leukemia (CML)

Treatment

Answer 9

imatinib

a tyrosine kinase inhibitor

Question 10

This is associated with in increase in red cell production and is more common in Ashkenazi Jews.

Mutation of JAK2

Answer 10

Polycythemia Vera (PVC)

Question 11

Polycythemia Vera (PVC)

would our serum erythropoeitin be (high, low, normal)?

Answer 11

decreased

Question 12

Polycythemia Vera (PVC)

Treatment

Answer 12

Polycythemia Vera (PVC)

Phlebotomy

myelosuppression with hydroxyurea, IFN-alpha, ruxolitinib

Question 13

Polycythemia Vera (PVC)

in what phase does massive splenomegaly occur?

Answer 13

Polycythemia Vera (PVC)

massive splenomegaly occurs in the spent phase of PVC because of the extramedullary hematopoiesis occurring in the setting of advanced marrow myelofibrosis

Question 14

JAK2 mutations or MPL mutations

sustained platelet counts 450/microL

no polycythemia or marrow fibriosis

Answer 14

Essential Thrombocytothemia

thrombopoietin-independent thrombocytosis

Question 15

this peripheral blood smear shows marked thrombocytosis including giant platelets

Answer 15

Essential Thrombocythemia

Question 16

I have. . .

obliterative marrow fibrosis

JAK2 mutation

and splenomegaly.

What is it?

Answer 16

Primary Myelofibrosis (PMF)

Both ET and PMF have a mutation of JAK2, but PMF has obliterative marrow fibrosis.

Collagen deposition in BM by normal fibroblasts dt fibrogenic factors produced by neoplastic megakaryocytes (PDGF and TGF-Beta)

Question 17

The presence of these teardrop-shaped RBCs indicate that the PMF is in what phase?

Answer 17

fibrotic (spent) phase