Myelodysplastic And Myeloproliferative Disorders

Front 1

To what type of cancer can myelodysplastic syndromes transform?

Back 1

AML

Front 2

What is secondary myelodysplatic syndrome?

Back 2

from genotoxic drugs or radiation exposure --> t-MDS

Front 3

In general, what is seen in a PBS with MDS?

Back 3

peripheral blood cytopenias due to neoplastic multipotent stems cell that remain in bone marrow

Front 4

What is the latency period for secondary MDS?

Back 4

2-8 years

Front 5

With MDS testing, what is seen in PBS?

Back 5

pancytopenia, dysplasia in one or all cell lines

Front 6

What is seen on bone marrow aspiration and biopsy with MDS?

Back 6

<20% blasts, dysplastic features in at least one cell line, and hypercellular usually

Front 7

What is the purpose of flow cytometry in MDS?

Back 7

confirms absence of AML

Front 8

What are common patterns seen in cytogenetics in MDS?

Back 8

monosomes of 5 and 7, deletions of 5q, 7q, and 20q, and trisomy 8

Front 9

Spherocytes and shistocytes are not seen in MDS but are seen with what condition?

Back 9

these indicate hemolysis

Front 10

What are types of erythroid dysplastia in BM of MDS?

Back 10

ringed sideroblasts, megaloblastic maturation, and nuclear budding abnormalities

Front 11

What is megaloblastoid maturation?

Back 11

there are open chromatin in these cells and nucleus is usually large; the nucleus is not maturing as fast as the cytoplasm

Front 12

What are types of neurophil dysplasia seen in BM of MDS?

Back 12

decreased secondary granules, toxic granulation with/without Dohle bodies, and pseudo pelger-huet cells

Front 13

What are types of megakaryocyte dysplasia seen in BM of MDS?

Back 13

single nucleur lobes and multiple separate nuclei (pawn ball megakaryocytes)

Front 14

To be categorized as MDS, what must the percentage of myeloblasts be?

Back 14

less than 20%

Front 15

Are auer rods a feature of MDS?

Back 15

no

Front 16

What are features of MDS PB morphology?

Back 16

Pseudo-pelger huet cells, hypogranular neutrophils, giant platelets, macrocytes, poikilocytes, relative or absolute monocytosis, and myeloblasts must be <10% of leukocytes

Front 17

Are spherocytes or shistocytes seen in MDS PB morphology?

Back 17

no

Front 18

What are characteristics of refractory cytopenia with unilineage dysplasia (RCUD)?

Back 18

refractory anemia, refractory neutropenia, and refractory thrombocytopenia

Front 19

What is the most common type of MDS by WHO classification?

Back 19

refractory cytopenia with multilineage dysplasia (RCMD)

Front 20

What is the second most common type of MDS by WHO classification?

Back 20

refractory anemia with excess blasts (RAEB)

Front 21

What are the categories of MDS WHO classification?

Back 21

refractory cytopenia with unilineage dysplasia (RCUB), refractory anemia with ringed sideroblasts, refractory cytopenia with multilineage dysplasia (RCMD), refractory anemia with excess blasts (RAEB), MDS with isolated del(5q), and MDS, unclassified

Front 22

How many blast cells are present in bone marrow normally?

Back 22

3%

Front 23

What is defined as excess blasts in the bone marrow regarding MDS?

Back 23

greater than 3 but less than 20

Front 24

What are characteristics of RCUD?

Back 24

less than 5% blasts in BM, dysplasia in less than/equal 10% of cells in one lineage, less than 1% blasts in PB, absent monocytosis, absent increased ringed sideroblasts and absent Auer rods

Front 25

What is the definition of cytopenia r/t RCUD?

Back 25

hemoglobin <10 mg/dl, platelet count <100,000 microL, absolute neutrophil count (ANC) <1800/micoL

Front 26

What is RARS?

Back 26

refractory anemia with ringed sideroblasts

Front 27

What are characteristics of RARS?

Back 27

>15% ringed sideroblasts in the bone marrow (10 or more iron-laden mitochondria occupying more than 1/3 of nuclear rim); no increase in blasts in BM or PB

Front 28

What is the prognosis for RARS?

Back 28

good prognosis

Front 29

What is RCMD?

Back 29

refractory cytopenia with multilineaage dysplasia?

Front 30

What are characteristics of RCMD?

Back 30

<5% blasts in BM, <1% blasts in PB, and severe dysplasia in two or more cell lines

Front 31

What is RCMD-RS?

Back 31

refractory cytopenia with multilineage dysplasia and ringed sideroblasts

Front 32

What is RAEB?

Back 32

refractory anemia with excess blasts

Front 33

What are characteristics of RAEB?

Back 33

5-19% myeloblasts in BM, dysplasia present, and NO Auer rods

Front 34

What is RAEB-1 and how is it classified?

Back 34

refractory anemia with excess blasts; classified by myeloblast count of 5-9%

Front 35

What is RAEB-2 and how is it classified?

Back 35

refractory anemia with excess blasts; classified by myeloblastic count in BM of 10-19%

Front 36

Which type of RAEB is associated with shorter survival and increased risk of developing AML?

Back 36

RAEB-11

Front 37

What is the presentation for MDS with isolated del(5q)?

Back 37

severe anemia, normal platelet count and ANC

Front 38

What is the epidemiology for MDS with isolated del(5q)?

Back 38

women > man; median age is 65-70 years

Front 39

What is seen in BM of patients with MDS with isolated del (5q)?

Back 39

micromegakaryocytes (mono or bilobed nuclei), <5% myeloblasts

Front 40

What procedure may be necessary for those with MDS with isolated del(5q)?

Back 40

RBC transfusions

Front 41

Which type of MDS has the most blast cells and progresses fastest?

Back 41

MDS RAEB 1 and 2

Front 42

Compared to MDS where neoplastic cells remain in the bone marrow, where do neoplastic cells reside in MPD?

Back 42

secondary hematopoietic organs (EMH)

Front 43

What are MPDs?

Back 43

group of disorders with increased proliferative drive in BM

Front 44

What cellular abnormality is responsible for MPDs?

Back 44

mutated constitutively activated tyrosine kinases

Front 45

What is the result of mutated constitutively activated tyrosine kinases in MPDs?

Back 45

circumvent normal controls and lead to growth-factor independent proliferation and survival of marrow progenitors, do NOT impair differentiation, and arise in multipotent or pluripotent stems cells

Front 46

What is seen in the spent phase of MPD?

Back 46

bone marrow fibrosis and PB cytopenias

Front 47

What is seen in CBC of someone with MPD?

Back 47

increase in one or more cell lines

Front 48

What is seen in PB of someone with MPD?

Back 48

maturation without excess blasts

Front 49

What is seen in bone marrow aspiration and biopsy in MPD?

Back 49

<20% blasts, maturation of involved cell lines and hypercellular until spent phase then fibrotic

Front 50

What is the purpose of flow cytometry in MPD?

Back 50

to confirm the absence of AML

Front 51

What are mutations seen in cytogenetics of MPDs?

Back 51

tyrosine kinase mutation and chromosomal abnormalities

Front 52

Elevations of what metabolite is seen with MPDs?

Back 52

uric acid d/t increased cell turn-over

Front 53

What is the pathogenesis of CML?

Back 53

synthesis of active BCR-ABL tyrosine kinase --> t(9;22)(q33;q11) --> philadelphic chromosome

Front 54

What is the Philadelphia chromosome?

Back 54

t(9;22)(q33;q11)

Front 55

What is seen in PB for CML?

Back 55

all levels of granulocytic maturation (<5% blasts), nucleated RBCs, increased basophils & eosinophils, few promyelocytes, giant platelets

Front 56

What are sea blue histiocytes?

Back 56

macros with abundant wringkled green-blue cytoplasm

Front 57

What is epidemiology for CML?

Back 57

adults (5th-6th decade) but children and adolescents too

Front 58

What are the clinical features of CML?

Back 58

insidious onset with fatigue, weakness weight loss, anorexia, and dragging in abdomen caused by splenomegaly; LUQ pain d/t splenic infarcts

Front 59

What is characterized by the accelerated phase of CML?

Back 59

increasing anemia and thrombocytopenia, rise in basophils, additional cytogenic abnormalities

Front 60

What is characterized by the blast crisis stage in CML?

Back 60

development of acute leukemia (either AML or ALL)

Front 61

What is a treatment for CML?

Back 61

gleevac (sp?)

Front 62

Sea blue histiocytes in BM are seen which with MPD?

Back 62

CML

Front 63

What is the prognosis of CML?

Back 63

poor; it can't be cured

Front 64

What is the pathogenesis for PV?

Back 64

activating point mutations in tyrosine kinase JAK2 --> decreased need for eythropoietin in RBC production

Front 65

What is the morphology in PB for PV?

Back 65

increased red cell mass, increased basophils, giant platelets

Front 66

What is the morphology for PV in BM?

Back 66

hypercellular; increased red cell progenitors; mildly increased granulocytic and megakaryotic precursors; moderate to marked reticulin fibers; mild organomegaly d/t congestion

Front 67

What is the epidemiology for PV?

Back 67

uncommon; adults in late middle age

Front 68

What are clinical features for PV?

Back 68

increased total blood volume --> viscosity with abnormal platelet function (bleeding and thrombosis)

Front 69

What are symptoms of PV?

Back 69

H/A, dizziness, HTN, pruritis, peptic ulceration, cyanosis (stagnation)

Front 70

What is the treatment for PV?

Back 70

phlebotomy

Front 71

Increased red cell mass with low erythropoeitin levels is seen with which MPD?

Back 71

PV

Front 72

What are typical Hgb and Hct levels in PV?

Back 72

hemoglobin is 14-28 gm and hematocrit is greater than/equal to 60%

Front 73

What is the pathogenesis for essential thrombocytopenia (ET)?

Back 73

activating point mutations in JAK2 or MPL --> decreased need for thrombopoietin for platelet development --> hyperproliferation

Front 74

What is the morphology of BM in ET?

Back 74

megakaryocytes markedly increased with abnormal large forms; delicate reticulum fibers

Front 75

What is the morphology of PB in ET?

Back 75

giant platelets; mild leukocytosis; marked elevated in platelets (>1,000,000 microL), only mild organomegaly

Front 76

What are clinical features of ET?

Back 76

abnormal function and increased number of platelets leads to bleeding and thrombosis

Front 77

What is erythromelalgia?

Back 77

throbbing and burning of hands and feet result of occlusion of small arterioles by platelet aggregates

Front 78

What is the epidemiology/course of disease for ET?

Back 78

indolent disease of adults

Front 79

Which MPD can present with erythromelalgia?

Back 79

ET

Front 80

Which gene mutations are associated with primary myelofibrosis?

Back 80

JAK2 or MPL mutations

Front 81

What is the pathogenesis of primary myelofibrosis?

Back 81

activating JAK2 or MPL mutations; inappropriate release of fibrogenic factors from neoplastic megakaryocytes = PDGF & TGF-B

Front 82

What are fibrogenic factors of neoplastic megakaryocytes and in which MPD is this seen?

Back 82

PDGF & TGF-B; primary myelofibrosis

Front 83

What is the morphology of BM in primary myelofibrosis?

Back 83

hypercellular --> hypocellular --> obiterative fibrosis --> bone formation; net of abnormal megakaryocytes

Front 84

What is the morphology of PB in primary myelofibrosis?

Back 84

erythroblastosis; tear drop RBCs; giant platelets; increased basophils

Front 85

What is the epidemiology for primary myelofibrosis?

Back 85

adults older than 60 years

Front 86

What are some of the clinical characteristics of primary myelofibrosis?

Back 86

symptoms are related to cellular malformation and organomegaly; hyperuricemia, NC/NC anemia

Front 87

Regarding JAK2 mutations, what is AML?

Back 87

it can be present or absent with AML

Front 88

Which MPDs have either JAK2 or MPL mutations?

Back 88

PV, ET, PMF

Front 89

Which MPDs have BCR-AB1 mutations?

Back 89

CML