Myelodysplastic syndrome

Question 1

essentially a clonal stem cell disorder resulting in (1) resulting in (2)

Answer 1

1. ineffective hematopoiesis, and abnormal maturation of hematopoietic cells within the marrow
2. peripheral blood cytopenias

refers to Myelodysplastic syndrome

Question 2

has a high risk of transformation to (1)

Answer 2

1. Acute Myeloid Leukemia (AML).

refers to Myelodysplastic syndrome

Question 3

can be secondary to (1)

Answer 3

1. genotoxic drug or radiation therapy

refers to Myelodysplastic syndrome

Question 4

In most cases the disease is primary but exposure to (1), toxic chemicals (2) chemotherapeutic drugs (3) agents
in particular) shows a strong association with these diseases.

Answer 4

1. ionizing radiation
2. benzene, permanent hair dyes
3. alkylating agents and topoisomerase II inhibitors

with development of Myelodysplastic syndrome and Acute myeloid leukemia

Question 5

The disease is also associated with several rare inherited bone marrow failure syndromes such as (1)

Answer 5

1. Fanconi anemia, Diamond‐Blackfan syndrome, Down Syndrome

refers to Myelodysplastic syndrome

Question 6

more frequently occurring bone marrow failure syndrome showing a well‐known increased susceptibility to the development of MDS and AML

Answer 6

Down syndrome

Question 7

Epigenetic factors such as (1) with silencing of (2) genes contribute to the pathogenesis along with mutation of transcription factors needed for proper marrow cell maturation.

Answer 7

1. hyper methylation
2. tumor suppressor

refers to Myelodysplastic syndrome

Question 8

Approximately 10% of cases will show (1) of function of the (2) gene.

Answer 8

1. loss
2. TP53 tumor suppressor

refers to Myelodysplastic syndrome

Question 9

Cytogenetic abnormalities are noted in myelodysplastic syndrome such as?

Answer 9

monosomy of chromosome 5 and 7
deletions of 5q, 7q and 20q
trisomy of chromosome 8

refers to Myelodysplastic syndrome

Question 10

(1) gene is located on chromosome 8 and trisomy 8 is commonly seen in a variety of (2)

Answer 10

1. MYC

2. myeloid malignancies

Question 11

How do myeloidysplastic syndrome patients present?

Answer 11

may present with anemia (weakness, sometimes severe), leukopenia (infections) or thrombocytopenia (bleeding, bruising ecchymosis, epistasis)

Question 12

Evaluation of the peripheral blood and bone marrow will reveal the abnormal cell morphology and will
evaluate for the presence of (1) cells and thus the risk of (2) can be evaluated

Answer 12

1. blast

2. transformation to AML

Question 13

Some of the more important morphologic changes seen in the bone marrow of patients with MDS
include?

Answer 13

hyper cellular bone marrow with ringed sideroblasts, megaloblastic change (similar to B12 deficiency changes), erythroid cells
with nuclear budding, Pseudo‐Pelger –Huet cells , mononuclear megakaryocytes and varying degrees of
blast cell proliferation (less than 20%)

Question 14

What is the cutoff for determining MDS which has transformed to AML?

Answer 14

Blast cell counts of 20% or greater is the cutoff for defining AML.

Question 15

Prognosis of MDS

Answer 15

Median survival in primary MDS is 9‐30 months and 10‐40% of patients will show worsening cytopenias
and development of AML

Question 16

Treatment of MDS for younger (50s) vs. older patients

Answer 16

Allogenic stem cell transplantation (ASCT) may be offered to younger patients .Older patients are
treated with transfusion support

Question 17

Lenolidimide an immunomodulatory agent is particularly effective in reducing transfusion requirements in the group of patients with (1)

Answer 17

1. 5q deletion

Question 18

RPS14 Ribosomal protein

Answer 18

found on 5q - loss promotes dysmaturation of bone marrow

Question 19

Prognostic importance of 5q

Answer 19

often good prognosis in older women

Question 20

Prognostic importance of 7q

Answer 20

worse prognosis

Question 21

What are the peripheral blood smear findings in MDS?

Answer 21

Giant platelets
Pseudo –Pelger –Huet cells
Macrocytosis
Poikilocytosis
Myeloblasts

Question 22

Pathogenesis of MDS: three causes

•1)‐mutations in factors regulating DNA methylation
similar to those in AML
• 2)‐mutations of 3’ end of Rna splicing machinery
• 3)‐mutations in factors required for normal
hematopoiesis

Answer 22

1) Epigenetic factors
2) Rna splicing factors
3) Transcription factors

Question 23

Pathogenesis of MDS

mutations of 3’ end of 1)

Answer 23

1) Rna splicing machinery

Question 24

what are Pseudo-Pelger-Huet cells;

Answer 24

these are neutrophils seen in the bone marrow AND peripheral blood; have dumb-bell shaped appearance with two nuclei;

Question 25

these are neutrophils seen in the bone marrow AND peripheral blood; have dumb-bell shaped appearance with two nuclei;

Answer 25

Pseudo-Pelger-Huet cells;

Question 26

how would erythroid dysplasia in BONE MARROW appear on histo?

Answer 26

numerous broken fragment of nuclear material in the cytoplasm; may also see Nucleated RBCs

Question 27

Ringed sideroblasts seen in 1)

Answer 27

BONE MARROW morphology in MDS

Question 28

Mononuclear megakaryocytes seen in 1)

Answer 28

BONE MARROW morphology in MDS

Question 29

macrocytosis seen in 1)

Answer 29

PERIPHERAL blood in MDS

Question 30

GIANT platelets seen in 1)

Answer 30

Peripheral blood in MDS

Question 31

Myeloblasts in bone marrow vs. peripheral blood in MDS

Answer 31

Bone marrow–> myeloblasts inc. but less than 20%

Peripheral blood–> myeloblasts less than 10%

Question 32

Poikilocytosis (variation in size of RBCs) seen in:

Answer 32

Peripheral blood in MDS

Question 33

Normal megakaryocytes vs. dysmegakaryocytes

Answer 33

Normal–> multilobulated nucleus with platelets in periphery of cytoplasm;
Dysmegakaryopoiesis–> MONOnuclear with NO platelets in periphery

Question 34

how to ID myeloblasts on histo:

Answer 34

Auer rods: Rod shaped structures seen in the cytoplasm of myeloblasts;