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Hematology 2 - CEU MLS > Myelodysplastic Syndromes > Flashcards

Myelodysplastic Syndromes Flashcards

1
Q

myelodysplastic comes from the words? (include their meanings)

A

“myelo” – myeloid cell lineage

“dysplasia” – abnormal cell development within tissues/organs

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2
Q

MDS is formerly known as

A

refractory anemia
smoldering leukemia
oligoblastic leukemia
preleukemia

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3
Q

progressive cytopenia in peripheral blood, reflecting defects in erythroid, myeloid, and/or megakaryocytic maturation

A

MYELODYSPLASTIC SYNDROMES (MDS)

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4
Q

MDS has an increased risk to transform into

A

acute myeloid leukemia (AML)

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5
Q

cell of origin for MDS

A

hematopoietic stem cells (HSCs) mutations

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6
Q

have clonal hematopoiesis (mutation in HSC) but do not develop a hematologic disorder

A

Clonal Hematopoiesis of Indeterminate Potential (CHIP)

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7
Q

T/F

Complex interactions among additional somatic mutations, epigenetic modifications, the BM microenvironment, and environmental stimuli determine whether CHIP develops into MDS

A

T

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8
Q

Variations of MDS

A

de novo mutations (primary MDS)
result of therapy (therapy-related MDS)
secondary to exposure to chemicals/radiation
inherited

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9
Q

Variation of MDS with changes in gene sequence; not inherited

A

de novo mutations (primary MDS)

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10
Q

Variation of MDS due to chemotherapy, medications that causes mutation

A

result of therapy (therapy-related MDS)

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11
Q

Variation of MDS not associated with prior disease treatment

A

secondary to exposure to chemicals or radiation

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12
Q

2 morphologic findings common to all types of MDS

A

progressive cytopenias
dyspoiesis in 1 or more cell lines

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13
Q

term for abnormal formation of blood cells

A

dyspoiesis

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14
Q

may be responsible for the ineffective hematopoiesis in MDS

A

Disruption of apoptosis

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15
Q

regulates cell population by decreasing cell survival in MDS

A

Apoptosis (programmed cell death)

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16
Q

Apoptosis rate during early phase of MDS

A

INCREASED
when cytopenias are evident

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17
Q

Apoptosis rate during late phase of MDS

A

DECREASED
when progression toward leukemia is apparent, which allows increased neoplastic cell survival and expansion of the abnormal clone

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18
Q

3 morphologic abnormalities of MDS

A

Dyserythropoiesis
Dysmyelopoiesis
Dysmegakaryopoiesis

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19
Q

Abnormal RBC formation

A

Dyserythropoiesis

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20
Q

Immature RBCs, unusual shape, cannot develop into functional mature cells leading to healthy RBCs shortage

A

Dyserythropoiesis

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21
Q

PB during Dyserythropoiesis

A
  • oval macrocytes (normal vit B12 and folate)
  • hypochromic microcytes (adeq. iron stores)
  • dimorphic RBC
  • poikilocytosis
  • basophilic stippling
  • Howell-Jolly bodies
  • siderocytes
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22
Q

BM during Dyserythropoiesis

A
  • RBC precursors with >1 nucleus or abnormal nuclear shapes
  • nuclear fragments
  • abnormal cytoplasmic features
  • basophilic stippling, heterogenous staining, ring sideroblasts
  • megaloblastoid cellular development (normal Vit B12 & folate)
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23
Q

Abnormal cell formation more on granulocytes and monocytes cell lines

A

Dysmyelopoiesis

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24
Q

PB during Dysmyelopoiesis

A
  • persistent basophilia in cytoplasm of otherwise mature WBCs, indicating
    nuclear-cytoplasmic asynchrony
  • abnormal granulation of neutrophils’ cytoplasm
  • abnormal nuclear features
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25
Q

BM during Dysmyelopoiesis

A
  • nuclear-cytoplasmic asynchrony
  • cytoplasmic changes - uneven staining
  • abnormal granulation of the cytoplasm
  • agranular promyelocytes (mistaken for blasts)
  • abnormal nuclear findings
  • granulocytic hypoplasia or hyperplasia
  • monocytic hyperplasia
  • abnormal localization of immature precursors
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26
Q

mistaken for blasts in Dysmyelopoiesis

A

agranular promyelocytes

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27
Q

term for abnormal NC ratio, appearance, and other components

A

nuclear-cytoplasmic asynchrony

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28
Q

abnormal granulation is either

A

hypogranulation
hypergranulation
agranulation

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29
Q

Abnormal formation of megakaryocytes

A

Dysmegakaryopoiesis

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30
Q

PB during Dysmegakaryopoiesis

A
  • giant platelets, abnormal plt granulation
  • circulating micromegakaryocytes
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31
Q

BM during Dysmegakaryopoiesis

A
  • large mononuclear megakaryocytes, micromegakaryocytes, or micromegakaryoblasts
  • nuclei may be bilobed or have multiple small, separated nuclei
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32
Q

T/F

For Differential Diagnosis, a thorough history and physical examination, including questions about exposure to drugs and chemicals, are essential

A

T

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33
Q

granulocytes of MDS may have abnormal cellular functions such as

A

decreased adhesion
deficient phagocytosis
decreased chemotaxis
impaired microbicidal capacity

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34
Q

cells when there is MDS have decreased levels of

A

myeloperoxidase
alkaline phosphatase

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35
Q

plays a role in protein function, activity, and molecular interactions

A

alkaline phosphatase

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36
Q

T/F

RBCs may exhibit shortened survival (apoptosis) in MDS

A

T

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37
Q

T/F

Erythroid precursors may have a increased response to erythropoietin that may contribute to anemia

A

F
DECREASED response to EPO –> anemia

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38
Q

T/F

In MDS, patients may experience ↑ bleeding despite adequate plt. no.

A

T

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39
Q

FAB Classification of MDS

A

Refractory anemia
Refractory anemia with ring sideroblasts (RARS)
Refractory anemia with excess blasts (RAEB)
Chronic myelomonocytic leukemia
Refractory anemia with excess blasts in transformation (RAEB-t)

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40
Q

Classification that structures MDS by the amount of dysplasia and number of blasts in BM

A

FAB Classification

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41
Q

WHO Classification of MDS

A

MDS with single lineage dysplasia (MDS-SLD)
MDS with ring sideroblasts (MDS-RS)
MDS-RS and single lineage dysplasia
MDS-RS and multilineage dysplasia
MDS with multilineage dysplasia
MDS with excess blasts (MDS-EB)
Myelodysplastic syndrome with isolated del(5q)
Myelodysplastic syndrome, unclassifiable
Childhood myelodysplastic syndrome
Refractory cytopenia of childhood (provisional)

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42
Q

dysplasia in at least 1 myeloid lineage

A

MDS With Single Lineage Dysplasia

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43
Q

cytogenetic abnormalities (abnormality in structure or no. of chromosomes) – seen in 50% of cases

A

MDS With Single Lineage Dysplasia

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44
Q

Symptoms of MDS With Single Lineage Dysplasia

A

fatigue/shortness of breath if anemia is present

increased infections from neutropenia

thrombocytopenia: petechiae, bruising, bleeding

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45
Q

has 1 or more cytopenias

A

MDS With Multilineage Dysplasia (MDS-MLD)

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46
Q

dysplasia in 2 or more myeloid cell lines

A

MDS With Multilineage Dysplasia (MDS-MLD)

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47
Q

myeloblasts in this classification do not contain Auer rods

A

MDS With Multilineage Dysplasia (MDS-MLD)

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48
Q

has gene SF3B1 mutation

A

MDS With Ring Sideroblasts (MDS-RS)

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49
Q

PB of MDS With Ring Sideroblasts (MDS-RS)

A

dimorphic
mixed population of hypochromic cells and normochromic cells

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50
Q

erythroid precursor containing at least 5 iron granules/cell, and these iron-containing mitochondria must circle at least 1/3 of the nucleus

A

ring sideroblast

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51
Q

If a mutation in SF3B1 is identified, only ___ of nucleated erythroid cells must be ring sideroblasts.

A

5%

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52
Q

If a mutation in SF3B1 is not detected, ___ of the bone marrow erythroid precursors must be ring sideroblasts to make this diagnosis.

A

15%

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53
Q

MDS classification with anemia and dyserythropoiesis

A

MDS With Ring Sideroblasts (MDS-RS)

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54
Q

2 subsets of MDS With Ring Sideroblasts (MDS-RS)

A

MDS-RS with single lineage dysplasia
MDS-RS with multilineage dysplasia

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55
Q

accounts for 3-10% of all MDS cases and has a median age of presentation of 71

A

MDS-RS with single lineage dysplasia

56
Q

1 or more cytopenias and dysplasia in 2 or more myeloid cell lines; has worse prognosis

A

MDS-RS with multilineage dysplasia

57
Q

characterized by trilineage cytopenias; significant dysmyelopoiesis, dysmegakaryopoiesis, or both, with excess blasts

A

MDS With Excess Blasts (MDS-EB)

58
Q

subsets of MDS With Excess Blasts (MDS-EB)

A

MDS-EB-1
MDS-EB-2

59
Q

subset of MDS-EB with Auer rods, regardless of blast count and is more aggressive course, with a greater percentage of cases transforming to AML

A

MDS-EB-2

60
Q

rare disorder caused by the loss of the part of the long arm (q arm) of chromosome 5; affects BM

A

MDS With Isolated del(5q) (5q- Syndrome)

61
Q

only MDS with a defining cytogenetic abnormality

A

MDS With Isolated del(5q) (5q- Syndrome)

62
Q

MDS affecting predominantly women and occurring at a median age of 70

A

MDS With Isolated del(5q) (5q- Syndrome)

63
Q

anemia without other cytopenias or thrombocytosis, hypolobulated megakaryocytes, erythroid hypoplasia

A

MDS With Isolated del(5q) (5q- Syndrome)

64
Q

proven to be effective in patients with isolated del(5q)

A

thalidomide analog lenalidomide (Revlimid)

65
Q

initially lack specific changes necessary for classification into other MDS subtypes

A

MDS, Unclassifiable (MDS-U)

66
Q

1% peripheral blood blasts, single linage dysplasia and pancytopenia, or an MDS-defining cytogenetic abnormality

A

MDS, Unclassifiable (MDS-U)

67
Q

very rare; increased frequency of specific inherited gene mutations such as RUNX1, SOS1, GATA2, ANKRD26, and others

A

Childhood Myelodysplastic Syndromes

68
Q

has cytopenia and dysplasia in at least 1 cell line

A

Childhood Myelodysplastic Syndromes

69
Q

gene mutations in Childhood Myelodysplastic Syndromes

A

RUNX1
SOS1
GATA2
ANKRD26

70
Q

% blasts in peripheral blood in MDS With Single Lineage Dysplasia

A

<1%

71
Q

% blasts in BM in MDS With Single Lineage Dysplasia

A

<5%

72
Q

Median Survival of MDS With Single Lineage Dysplasia

A

5 years

73
Q

Risk of AML transformation in MDS With Single Lineage Dysplasia

A

2-12%

74
Q

% blasts in peripheral blood in MDS With Multilineage Dysplasia

A

<1%

75
Q

% blasts in BM in MDS With Multilineage Dysplasia

A

<5%

76
Q

Median survival of MDS With Multilineage Dysplasia

A

31-38 months

77
Q

Risk of AML transformation in MDS With Multilineage Dysplasia

A

10-12% (within 5 yrs)

78
Q

% blasts in peripheral blood in MDS-EB-1

A

2-4%

79
Q

% blasts in BM in MDS-EB-1

A

5-9%

80
Q

% blasts in peripheral blood in MDS-EB-2

A

5-19%

81
Q

% blasts in BM in MDS-EB-2

A

10-19%

82
Q

MDS-EB subset with greater risk of AML transformation

A

MDS-EB-2

83
Q

% blasts in peripheral blood of MDS With Isolated del(5q)

A

<1%

84
Q

Median survival of MDS With Isolated del(5q)

A

54-146 months

85
Q

% blasts in peripheral blood of MDS, unclassifiable

A

1%

86
Q

myeloid neoplasms with clinical, laboratory, and morphologic features that are characteristic of both MDS and MPN

A

MYELODYSPLASTIC/MYELOPROLIFERATIVE
NEOPLASMS

87
Q

Classifications of MYELODYSPLASTIC/MYELOPROLIFERATIVE NEOPLASMS

A

Chronic myelomonocytic leukemia (CMML)

Atypical chronic myeloid leukemia (aCML), BCR/ABL1 negative

Juvenile myelomonocytic leukemia (JMML)

MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T)

Myelodysplastic/myeloproliferative neoplasm, unclassifiable

88
Q

Chronic Myelomonocytic Leukemia (CMML) affects what cell

A

monocytes

89
Q

value of persistent monocytosis of CMML

A

> 1.0 monocyte x 10^9/L

90
Q

myelodysplastic/myeloproliferative neoplasm with absence of the BCR/ABL1 fusion gene

A

Chronic Myelomonocytic Leukemia (CMML)

91
Q

myelodysplastic/myeloproliferative neoplasm with absence of rearrangements involving PDGFRA, PDGFRB, FGFR1, or PCM1-JAK2

A

Chronic Myelomonocytic Leukemia (CMML)

92
Q

myelodysplastic/myeloproliferative neoplasm with <20% blasts and promonocytes in PB and BM

A

Chronic Myelomonocytic Leukemia (CMML)

93
Q

myelodysplastic/myeloproliferative neoplasm with dysplasia in 1 or more myeloid cell line

A

Chronic Myelomonocytic Leukemia (CMML)

94
Q

myelodysplastic/myeloproliferative neoplasm with mutations in > 90% of cases
with TET2, SRSF2, ASXL1, and RUNX1 being the most common

A

Chronic Myelomonocytic Leukemia (CMML)

95
Q

most common mutations found in > 90% of CMML cases

A

TET2
SRSF2
ASXL1
RUNX1

96
Q

condition wherein Trisomy 8 and loss of all or portions of chromosome 7 is common

A

CMML

97
Q

chromosome that controls cell growth and division

A

7

98
Q

T/F

The mutational landscape of CMML is complex with some patients having 8 to 14 distinct mutations in coding sequences.

A

T

99
Q

myelodysplastic/myeloproliferative neoplasm with leukocytosis and dysgranulopoiesis

A

Chronic Myelomonocytic Leukemia (CMML)

100
Q

myelodysplastic/myeloproliferative neoplasm wherein splenomegaly may be present as a result of infiltration of leukemic cells

A

Chronic Myelomonocytic Leukemia (CMML)

101
Q

leukocytosis with morphologically dysplastic neutrophils and their precursors

A

Atypical Chronic Myeloid Leukemia, BCR/ABL1 Negative

102
Q

myelodysplastic/myeloproliferative neoplasm with multilineage dysplasia

A

Atypical Chronic Myeloid Leukemia, BCR/ABL1 Negative

103
Q

karyotype abnormalities are seen in a third of patients, with essentially all patients demonstrating at least 1 gene mutation

A

Atypical Chronic Myeloid Leukemia, BCR/ABL1 Negative

104
Q

myelodysplastic/myeloproliferative neoplasm with dyspoiesis in all cell lines, but it is most remarkable in neutrophils, which may exhibit PelgerHuët-like cells, hypogranularity, bizarre segmentation

A

Atypical Chronic Myeloid Leukemia, BCR/ABL1 Negative

105
Q

neutrophils in CMML may exhibit

A

PelgerHuët-like cells
hypogranularity
bizarre segmentation

106
Q

myelodysplastic/myeloproliferative neoplasm with poor prognosis; commonly progress (2 yrs) to AML or succumb to BM failure

A

Atypical Chronic Myeloid Leukemia, BCR/ABL1 Negative

107
Q

myelodysplastic/myeloproliferative neoplasm with proliferation of granulocytic and monocytic cell lines affecting children from 1 month to 14 y/o

A

Juvenile Myelomonocytic Leukemia

108
Q

has somatic/germline mutations that activates RAS/MAPK pathway

A

Juvenile Myelomonocytic Leukemia

109
Q

has strong association with congenital disorders such as Noonan syndrome and neurofibromatosis type 1

A

Juvenile Myelomonocytic Leukemia

110
Q

Juvenile Myelomonocytic Leukemia has strong association with these congenital disorders

A

Noonan syndrome
Neurofibromatosis type 1

111
Q

Tx for Juvenile Myelomonocytic Leukemia (effective in 50% of pt)

A

Allogeneic stem cell transplantation

112
Q

Myelodysplastic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis is formerly known as

A

MDS/MPN refractory anemia with ring sideroblasts and thrombocytosis

113
Q

associated with mutations in SF3B1 and JAK2 V617F

A

Myelodysplastic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis

114
Q

Myelodysplastic/Myeloproliferative Neoplasm that presents with anemia, 15% or more ring sideroblasts, thrombocytosis, atypical megakaryocytes, and <1% blasts in peripheral blood and <5% blasts in BM

A

Myelodysplastic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis

115
Q

used for cases that meet the criteria for MDS/MPN but do not fit into one of aforementioned subcategories

A

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable

116
Q

time of diagnosis, clinical history, and the detection of molecular aberrations are important factors in properly diagnosing this condition

A

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable

117
Q

% of cases in de novo MDS where there is chromosome abnormalities

A

50%

118
Q

% of cases in t-MDS where there is chromosome abnormalities

A

90% to 95%

119
Q

most common abnormalities involve these chromosomes in MDS

A

chromosomes 5, 7, 8, 18, 20, and 13

120
Q

most common single abnormalities besides del(5q)

A

trisomy 8
monosomy 7, 12p–, iso 17, –21,
loss of the Y chromosome

121
Q

MDS mutations affect 5 major groups of genes

A

RNA splicing
DNA methylation
activated cell signaling
myeloid transcription factors
chromatin modifiers

122
Q

most common mutations of MDS

A

TET2
SF3B1
ASXL1
SRSF2
DNMT3A
RUNX1

123
Q

T/F
MDS has changes in gene expression without altering DNA sequence

A

T

124
Q

MDS epigenetic factors

A

diet
drugs
environmental pollutants (Cr, Cd, Hg, Ni, As)

125
Q

3 different ways in which epigenetics of MDS may facilitate oncogenesis:

A

methylation of CpG islands
histone modification
alteration of microRNA expression

126
Q

term for healthy cells transform to cancer cells

A

oncogenesis

127
Q

Most widely used prognostic scoring models for MDS

A

International Prognostic Scoring System (IPSS)

Revised International Prognostic Scoring System (IPSS-R)

128
Q

3 “prognostic indicators” used by IPSS to predict the course of the patient’s disease

A

Percentage of leukemic blast cells in BM

Type of chromosomal changes, if any, in the BM cells (cytogenetics)

Presence of 1 or more low blood cell counts
(cytopenias)

129
Q

includes additional cytogenetic abnormalities and is more sensitive to the percentage of blasts and the degree of cytopenias. Other clinical features affecting survival but not transforming into AML include patient age, serum ferritin, patient performance status, and LDH levels

A

Revised International Prognostic Scoring System (IPSS-R)

130
Q

factors noted in IPSS-R

A

Blasts
Cytogenetics
Hemoglobin
Platelet count
Absolute neutrophil count

131
Q

T/F

Prognostic systems and risk groups predict how MDS will respond to treatment

A

F

Prognostic systems and risk groups do not predict how MDS will respond to treatment but instead how MDS is likely to behave over time without treatment.

132
Q

treatment if there is favorable prognosis

A

supportive therapy:

✓ transfusions
✓ erythroid stimulating agents
✓ thrombopoietin
✓ granulocyte colony stimulating factor
✓ prophylactic antibiotics
✓ iron chelation

133
Q

other treatments that have met with limited success for MDS

A

chemotherapeutic agents
epigenetic modifiers

134
Q

only cure for MDS

A

bone marrow or hematopoietic stem cell transplantation

135
Q

future treatment possibilities for MDS

A

apoptosis-controlling drugs

Hematology 2 - CEU MLS (4 decks)

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