Myelodysplasia

Question 1

what is the clinical phenotype of MDS?

Answer 1

peripheral cytopenias in the setting of a normocellular or hypercellular bone marrow

Question 2

the vast majority of MDS cases are caused by what?

Answer 2

de novo - exact cause is unclear

Question 3

what are the symptoms of MDS?

Answer 3

1. anemia
2. infections
3. bleeding problems
4. organomegaly / lymphadenopathy
5. sweet’s syndrome

Question 4

what is sweet’s syndrome?

Answer 4

1. acute neutrophilic dermatosis and pyoderma gangrenosum

Question 5

what is the gold standard test for MDS?

Answer 5

bone marrow biopsy

Question 6

which has a shorter latency period for development of MDS / AML - aklylating agents or topoisomerase inhibitors?

Answer 6

topoisomerase inhibitors

Question 7

what is the typical demise for a patient with high risk MDS?

Answer 7

infection

Question 8

what are the features of 5q syndrome?

Answer 8

1. female predominance
2. median age 68 years
3. macrocytic anemia, leukopenia, platelets increased

Question 9

what is the treatment for 5q syndrome?

Answer 9

lenalidomide

Question 10

what is CMML?

Answer 10

chronic myelomonocytic leukemia - a form of MDS

Question 11

what are the features of CMML?

Answer 11

1. increase in monocytes in BM and peripheral blood
2. variable degrees of dysplasia
3. can have response to imatinib - otherwise use azacytidine

Question 12

hypocellular MDS resembles what other condition?

Answer 12

aplastic anemia

Question 13

what is the low intensity treatment for MDS?

Answer 13

1. supportive
2. transfusion
3. growth factors

Question 14

what is the high intensity treatment for MDS?

Answer 14

1. stem cell transplant
2. chemotherapy
3. clinical trials of novel therapy

Question 15

what is the treatment for MDS outside of 5q and CMML?

Answer 15

azacytidine

Question 16

what is the only chance at a cure for MDS?

Answer 16

allogeneic transplant

Question 17

what are the classic myeloproliferative disorders?

Answer 17

1. CML
2. polycythemia vera
3. essential thrombocytosis
4. primary myelofibrosis

Question 18

the majority of myeloproliferative disorders will have what mutation?

Answer 18

JAK2

Question 19

what are the symptoms of CML?

Answer 19

1. fatigue, night sweats, weight loss
2. splenomegaly
3. anemia / platelet dysfunction
4. hyperleukocytosis (over 100,000)

Question 20

what are the lab findings of CML?

Answer 20

1. neutrophilia and immature circulating myeloid cells
2. absolute basophilia
3. elevated LDH, uric acid

Question 21

what are the three phases of CML?

Answer 21

1. chronic
2. accelerated
3. blast

Question 22

what are the features of chronic phase CML?

Answer 22

1. blood and bone marrow blasts less than 10%

2. BCR-ABL rearrangement

Question 23

what are the features of accelerated phase CML?

Answer 23

1. blood or bone marrow blasts over 10%

2. progressive splenomegaly, weight loss, fevers, bone pain

Question 24

what are the features of blast phase CML?

Answer 24

blood or bone marrow blasts over 20%

Question 25

what is the diagnosis for CML?

Answer 25

1. BCR-ABL mutation | 2. confirm with FISH or RT-PCR

Question 26

what is the treatment for CML?

Answer 26

imatinib

Question 27

definition: polycythemia vera

Answer 27

elevated RBC mass in absence of secondary conditions

Question 28

what is the difference between polycythemia vera and essential thrombocytosis in terms of diagnosis?

Answer 28

polycythemia vera will have an elevation in all of the cell lines

Question 29

what are the symptoms of polycythemia vera?

Answer 29

itching, erythtomelagia, venous / arterial thrombosis

Question 30

what are the signs of polycythemia vera?

Answer 30

1. hypertension 2. splenomegaly 3. hepatomegaly

Question 31

what are the major and minor diagnostic criteria for polycythemia vera? what constitutes an affirmative case?

Answer 31

major - Hb over 18.5 male, 16.5 female plus JAK2 minor - bone marrow with hypercellularity and trilineage growth, low serum EPO REQUIREMENTS: both major and 1 minor OR 1st major with 2 minor

Question 32

what is the first line therapy for polycythemia vera?

Answer 32

phlebotomy

Question 33

what is the first line therapy for essential thrombocytosis?

Answer 33

hydrea, cytoreductive therapy

Question 34

what needs to be ruled out before making a final diagnosis of ET?

Answer 34

reactive thrombocytosis

Question 35

what are the hallmarks of primary myelofibrosis?

Answer 35

marrow fibrosis and extramedullary hematopoiesis