Myelodyplastic Syndrome Flashcards
1
Q
TRUE/FALSE: MDS is a molecular, cytogenetic, immunological criteria, and
morphological features, according to FAB
A
FALSE
2
Q
TRUE/FALSE: It is Characterized by progressive cytopenias in PB
A
TRUE
3
Q
TRUE/FALSE: Patients with MDS have an increased risk to transform to Acute Lymphocytic Leukemia (ALL)
A
FALSE - Acute Myeloid Leukemia (AML)
4
Q
The abnormalities in MDs is classified as?
A
Refractory Anemia, Smoldering Leukemia, Oligoblastic Leukemia, Preleukemia
5
Q
TRUE/FALSE: MDs is classified as molecular, cytogenetic, immunological criteria, and morphological features, according to FAB.
A
FALSE by WHO
6
Q
Median age of diagnosis in MDs patient?
A
76 years old
7
Q
MDs has progressive cytopenia’s in PB, that reflects on all cell lines such as:
A
Myeloid, Lymphoid, Megakaryocytic
8
Q
MDs has phenotypically ___ hematopoietic stem cell; ____ frequency in bone marrow with one or more somatic mutations.
A
normal; low
9
Q
TRUE/FALSE: People may manifest the somatic mutation but may not manifest MDs.
A
TRUE
10
Q
MDs is described as a ____ hematopoietic disorder.
A
clonal
11
Q
CHIP
A
Clonal Hematopoiesis of indeterminate potential
12
Q
TRUE/FALSE: 10% individuals older than 90 have CHIP.
A
FALSE - Approximately 10% of individuals who are older than 65
and nearly 20% older than 90 have CHIP
13
Q
The complex interaction causing CHIP are:
A
Somatic mutation, epigenetic modification, BM microenvironment, and environmental stimuli
14
Q
Conditions/Predisposition to MDs are:
A
Fanconi’s Anemia
Diamond Black Fan Anemia
Shwachman-Diamond Syndrome
15
Q
Characterizations of MDs:
A
Progressive cytopenias but normal cellular BM
Dyspoiesis in one or more cell lines
Disruption of apoptosis due to ineffective hematopoiesis
16
Q
Modified T/F: MDs can transform apparently to leukemia; This causes an increase in apoptosis
A
1st Statement: True
2nd Statement: False - decrease apoptosis, as it allow increase neoplastic cell survival and the expansion of abnormal growth
17
Q
The pattern of abnormalities in MDs is referred as:
A
Refractory Anemia; Smoldering Leukemia; Oligoblastic Leukemia; Preleukemia
18
Q
T/F: Oftenly affects individuals younger than age 50 unless
preceded by chemotherapy or radiation used in the
treatment of another malignancy.
A
FALSE -rarely
19
Q
The cell origin of MDS is _____
A
Myeloid progenitor wherein patients with MDs develop lymphoid malignancy
20
Q
T/F: Healthy patients may have clonal hematopoiesis but do
develop a hematologic disorder.
A
FALSE - do not develop hematologic disorder
21
Q
Known to be a precursor state for many hematologic disorders, including MDS
A
clonal hematopoiesis of indeterminate potential (CHIP)
22
Q
T/F: The rate of Transformation of CHIP is high
A
FALSE - low
23
Q
What is the primary MDS
A
De novo mutations
24
Q
Effects of some leukemogenic chemotherapies and therapeutic
radiation are known to cause
A
Genetic mutations and Cellular
disruptions
25
The median onset of therapy-related MDS (t-MDS)
Usually 4 to 7 years after therapy was initiated
26
This is an aggressive and may evolve quickly into AML
t-MDS
27
The Apoptosis regulates the cell population by ________ cell survival. Yet, in early disease, apoptosis is _______ where peripheral blood cytopenia are evident. The progression of MDs toward leukemia is apparent, apoptosis is _______ where it allows _______ neoplastic cell survival.
decreasing; increase; decreased; increased
28
Defective development of RBC
DYSERYTHROPOIESIS
29
The most common morphologic finding in dyserythropoiesis is __________.
presence of oval macrocytes
30
Findings in Dyserythropoiesis
_______ microcytes
_______ macrocytes
_______ Vitamin B12 and Folate values
Presence of oval macrocytes
Normal Vitamin B12 and folate values
Hypochromic microcytes
31
Erythrocyte undergoing abnormal development indicates:
```
Poikilocytosis
Basophilic stippling
Howell-Jolly bodies
Siderocytes/Ring sideroblast
Megaloblastoid
Erythrocytic Hyperplasia/ Hypoplasia
```
32
Dyserythropoiesis morphological findings in NUCLEUS include:
```
More than one nucleus or abnormal (Bilobed)
nuclear shapes
Nuclear fragments
Internuclear bridging
Nuclear budding
```
33
Dyserythropoiesis morphological findings in CYTOPLASM include:
Basophilic stippling
| Heterogeneous staining
34
Morphologic Evidence of Dyserthropoiesis:
______ macrocytes
______ microcytes
______ red blood cell (RBC) population
RBC precursors with ____ than ____ nucleus
RBC precursors with ______ nuclear shapes
RBC precursors with ______ cytoplasmic staining
______ sideroblasts
Oval macrocytes
Hypchromic microcytes
Dimorphic red blood cell (RBC) population
RBC precursors with more than one nucleus
RBC precursors with abnormal nuclear shapes
RBC precursors with uneven cytoplasmic staining
Ring sideroblasts
35
Dysmyelopoiesis: Its peripheral blood findings
_______ in the cytoplasm (Basophilia or Basopenia)
_______ granules of neutrophil cytoplasms
_______ granules (Hypogranulation/ Hypergranulation)
_______ bands
_______ nuclear features (hypo/hyper or both; with or without nuclear rings)
```
Persistence of basophilia in the cytoplasm of mature white
blood cells
○ Indicative of nuclear-cytoplasmic asynchrony
● Abnormal granulation of neutrophil cytoplasms
○ Larger granules
○ Hypogranulation/Agranulation
● Agranular bands
○ May be misidentified as monocytes
● Abnormal nuclear features
○ Hyposegmentation
○ Hypersegmentation
○ Presence of nuclear rings
```
36
In dysplastic marrows, ______ hyperplasia is commonly found
Monocytic
37
```
Morphologic findings of DYSMYELOPOIESIS:
Persistent ______ cytoplasm
________ granulation
________ nuclear shapes
________ cytoplasmic staining
```
Persistent basophilic cytoplasm
Abnormal granulation
Abnormal nuclear shapes
Uneven cytoplasmic staining
38
A MDs disorder wherein platelets exhbit dyspoietic morphology in the peripheral
blood
DYSMEGAKARYOPOIESIS
39
The platelets in Dysmegakaryopoiesis described as _________
Larged fused granules
40
In Dysmegakaryopoiesis, _____ (micro/macro) megakaryocytes circulates in the blood
Micromegakaryocytes
41
```
The abnormal morphology in megakaryocytic BONE MARROW exhibit:
___________ megakaryocytes
Micromega _______
Micromega _______
Nuclei in cells may be:
■_______ (how many lobes)
■ _______ separated nuclei
```
```
Large mononuclear megakaryocytes
○ Micromegakaryocyte
○ Micromegakaryoblasts
○ Nuclei in cells may be:
■ Bilobed
■ Multiple separated nuclei
```
42
The morphologic evidences found in DYSMEGAKARYOPOIESIS:
_______ platelets
Platelets with ______ granulation
Circulating ____megakaryocytes (micro/macro)
Large ________ megakaryocytes
● Micromegakaryocytes or micromegakaryoblasts or both
● Abnormal nuclear shapes in the
megakaryoctes/megakaryoblasts
```
Giant platelets
● Platelets with abnormal granulation
● Circulating micromegakaryocytes
● Large mononuclear megakaryocytes
● Micromegakaryocytes or micromegakaryoblasts or both
● Abnormal nuclear shapes in the
megakaryoctes/megakaryoblasts
```
43
```
Abnormal cellular function: Increased/Decreased/Normal
_____ Myeloperoxidase
_____ Alkaline Phosphate
_____ Chemotaxis
_____ Adhesion
_____ Phagocytosis
_____ Platelet Count
_____ RBC life span
```
Decreased levels of myeloperoxidase and alkaline
phosphatase may be found.
```
WBC
● Decreased adhesion, deficient
phagocytosis
● Decreased chemotaxis, impaired
microbicidal capacity
```
RBC
● Shortened life span
● Decrease response to EPO causing anemia
Platelet
● Increased bleeding despite normal platelet count
44
There should be atleast ____ % blasts in the BM to diagnose ACUTE LEUKEMIA
30
45
The five classification of MDs according to FAB are:
1. Refractory anemia
2. Refractory anemia with ring sideroblasts (RARS)
3. Refractory anemia with excess blasts (RAEB)
4. Chronic myelomonocytic leukemia
5. Refractory anemia with excess blasts in transformation
(RAEB-t)
46
The threshold for dysplasia in MDs patient, is defined as ____ % dysplastic cells in any hematopoietic lineage.
10
47
The percentage of blasts required for diagnosis of acute
| leukemia has decreased to ____%.
20
48
Classification of Myelodysplastic syndromes, according to WHO are:
● 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)
○ MDS-EB-1
○ MDS-EB-2
● Myelodysplastic syndrome with isolated del(5q)
● Myelodysplastic syndrome, unclassifiable
● Childhood myelodysplastic syndrome
○ Refractory cytopenia of childhood (provisional)
49
A refractory cytopenia with
| unilineage dysplasia
MDS with single lineage dysplasia
| MDS-SLD
50
These symptoms related to cytopenia, demonstrate ______
○ fatigue or shortness of breath if anemia is present
○ increased infections from neutropenia
○ petechiae, bruising, or bleeding from thrombocytopenia
MDS with single lineage dysplasia
| MDS-SLD
51
In MDs cases, < __ % in peripheral blood;
In MDS cases, less than 1% blasts in the peripheral blood and less than 5% blasts in the bone marrow.
52
The median survival of MDS with single lineage dysplasia
| (MDS-SLD) is ____ years
5
53
Formerly known as refractory cytopenia with multilineage
| dysplasia
MDS with multiple lineage dysplasia
54
One or more cytopenias, dysplasia in two or more myeloid
| cell lines.
MDS with multiple lineage dysplasia
55
The median survival of MDS with multiple lineage dysplasia is ____ years.
31 to 38 months
56
The risk of transformation to AML of MDS with single lineage dysplasia
(MDS-SLD) ___% to ___%
2% to 12% risk of
| transformation to AML
57
The risk of transformation to AML of MDS with multiple lineage dysplasia ___% to ___%
with a 10% to
| 12% risk of transformation to AML within 5 years.
58
MDS with ring sideroblasts has mutations in the spliceosome gene ______
SF3B1
59
This MDS classification contains A ring sideroblast is an erythroid precursor containing at least
five iron granules per cell, and these iron-containing
mitochondria must circle at least one-third of the nucleus.
MDS with ring sideroblasts
60
T/F: If a mutation in SF3B1 is identified, only 15% of nucleated
erythroid cells must be ring sideroblasts. If a mutation in SF3B1 is not detected, 5% of the bone
marrow erythroid precursors must be ring sideroblasts to
make this diagnosis.
1st Statement:___; 2nd Statement
Both statements - FALSE
If a mutation in SF3B1 is identified, only 5% of nucleated
erythroid cells must be ring sideroblasts. If a mutation in SF3B1 is not detected, 15% of the bone
marrow erythroid precursors must be ring sideroblasts to
make this diagnosis.
61
Patients with this kind of MDs have anemia and dyserythropoiesis
MDS with Ring sideroblasts
62
The peripheral blood of Patients with MD-RS demonstrates dimorphic population, these are:
hypochromic cells and
| normochromic cells.
63
MDS-RS with single lineage dysplasia, median age is ____ yrs old
71
64
T/F: MDS-RS with single dysplasia has a worse prognosis
| than MDS with multilineage lineage dysplasia
FALSE - MDS-RS with multilineage dysplasia has a worse prognosis
than MDS with single lineage dysplasia
65
Trilineage cytopenias, as well as significant
| dysmyelopoiesis, dysmegakaryopoiesis, or both
MDS with excess blasts
66
MDS with Excess Blasts? What subtype define:
| 5% to 9% blasts in the bone marrow or 2% to 4% blasts in the peripheral blood
MDS-EB1
67
MDS with Excess Blasts? What subtype define:
10% to 19% blasts in the bone marrow and
5% to 19% blasts in the peripheral blood
MDS-EB-2
68
This subtype of MDS-Blast contais Auer Rods?
MDS-EB-2
69
the only MDS WHO recognized MDS with a defining cytogenetic abnormality
MDS with Isolated Del (5q) (5q-SYNDROME)
70
T/F: MDS with Isolated Del (5q) (5q-SYNDROME) affect predominantly ______ (man/women)
Women
71
MDS with Isolated Del (5q) (5q-SYNDROME), median survival of patient ranges from _____ to ____ months
54 to 146 months
72
Treatment for MDS with Isolated Del (5q) (5q-SYNDROME) which has proven to be effective in patients
Revlimid - Thalidomide Analog Lenalidomide
73
A MDS that initially lack specific changes
MDS, Unclassifiable (MDS-U)
74
A type of MDS wherein:
Blasts are ____ in PB in MDS with Isolated Del (5q)
Blasts are ____ in PB in MDS unclassifiable
<1 %; 1%
75
The diagnosis for patients that demonstrates:
○ 1% peripheral blood blasts,
○ single linage dysplasia and pancytopenia, or an
○ MDS-defining cytogenetic abnormality
MDS, Unclassifiable (MDS-U)
76
A De novo MDS in children occurs rarely. This kind of MDS is known as _____
Childhood myelodysplastic Syndromes
77
Gene mutations occurs in De novo MDS are
specific inherited gene mutations such as RUNX1,
| SOS1, GATA2, ANKRD26,
78
Classifications of Myelodysplastic or Myeloproliferative neoplasms are:
○ Chronic myelomonocytic leukemia (CMML);
○ Atypical chronic myeloid leukemia (aCML);
○ Juvenile myelomonocytic leukemia (JMML);
○ Refractory anemia with ring sideroblasts and
thrombocytosis (MDS/MPN-RS-T);
○ MDS/MPN, unclassifiable
79
Absence of BCR or ABL1
CHRONIC MYELOMONOCYTIC LEUKEMIA
80
Absence of rearrangement of PDGFRA, PDGFRB, FGFR1,
| PCM1-JAK2
CHRONIC MYELOMONOCYTIC LEUKEMIA
81
Absence of rearrangements in CHRONIC MYELOMONOCYTIC LEUKEMIA include:
PDGFRA,
| PDGFRB, FGFR1, or PCM1-JAK2
82
Mutation in TET2, SRSF2, ASXL1, RUNX1
CHRONIC MYELOMONOCYTIC LEUKEMIA
83
BCR/ABL1 is negative
ATYPICAL CHRONIC MYELOID LEUKEMIA,
| BCR/ABL1 NEGATIVE
84
characterized by leukocytosis with morphologically
| dysplastic neutrophils and their precursors.
ATYPICAL CHRONIC MYELOID LEUKEMIA,
85
ATYPICAL CHRONIC MYELOID LEUKEMIA, dyspoiesis is seen in all cell lines, but it is most remarkable in ________ (type of WBC). It exhibits _______, ________, and, ________.
Neutrophils; Pelger-Huët-like cells; hypogranularity; and
| bizarre segmentation.
86
This type of MDS and MPN has a poor prognosis for patients with _____, due to progress to AML or succumb to bone marrow
failure
ATYPICAL CHRONIC MYELOID LEUKEMIA,
87
It is a clonal disorder characterized by proliferation of the granulocytic and monocytic cell lines and affects children from 1 month to 14 years of age
JUVENILE MYELOMONOCYTIC LEUKEMIA
88
JUVENILE MYELOMONOCYTIC LEUKEMIA have somatic or germline mutations that activate the _________ pathway
RAS/MAPK
89
A type of MDS/MPN that has a strong association with congenital disorders such
as Noonan syndrome and neurofibromatosis type 1.62
JUVENILE MYELOMONOCYTIC LEUKEMIA
90
it is often associated with
mutations in SF3B1 and JAK2 V617F provided rational for
the nature of the disease
MYELODYSPLASTIC/MYELOPROLIFERATIVE NEOPLASM
| WITH RING SIDEROBLASTS AND THROMBOCYTOSIS
91
```
This type of MDS/MPN that presents with:
○ Anemia
○ 15% or more ring sideroblasts
○ Thrombocytosis
○ atypical megakaryocytes
○ and 1% or less of blasts in the peripheral blood and 5%
or less of blasts in the bone marrow
```
MYELODYSPLASTIC/MYELOPROLIFERATIVE NEOPLASM
| WITH RING SIDEROBLASTS AND THROMBOCYTOSIS
91
```
This type of MDS/MPN that presents with:
○ Anemia
○ 15% or more ring sideroblasts
○ Thrombocytosis
○ atypical megakaryocytes
○ and 1% or less of blasts in the peripheral blood and 5%
or less of blasts in the bone marrow
```
MYELODYSPLASTIC/MYELOPROLIFERATIVE NEOPLASM
| WITH RING SIDEROBLASTS AND THROMBOCYTOSIS
92
MYELODYSPLASTIC/MYELOPROLIFERATIVE NEOPLASM, UNCLASSIFIABLE
is used for cases
that meet the criteria for MDS/MPN but do not fit into one
of the aforementioned subcategories
93
A type of cytogenetic diagnosis that has a major effect on prognosis in MDS patients
Karyotype
94
T/F: Cytogenetic abnormality is non-specific to a subtype of
| MDS
FALSE
95
Most common abnormalities of chromosome involve in MDS are:
chromosomes 5, 7,
| 8, 18, 20, and 13
96
The most common single abnormalities in MDS besides del (5q) are
trisomy 8 and monosomy 7, 12p–, iso 17, –21, and loss of the
| Y chromosome
97
The mutations affect five major groups of genes:
```
○ RNA splicing
○ DNA methylation
○ activated cell signaling
○ myeloid transcription factors
○ chromatin modifiers
```
98
The most favorable prognosis of mutation in MDS is ______: while _____ confers negative prognosis and predict a higher risk of transformation to AML
SF3B1; TP53
99
Mutations that play important roles in altering CpG island
| methylation _______; while ______ play important roles in altering histone methylation
TET2; ASXL1
100
The most widely used prognostic
| scoring models for MDS
IPSS and IPSS-R
101
prescribed for
| patients with low-risk MDS.
Lenalidomide and azanucleosides
