Myelodysplastic Syndromes Flashcards
In myelodysplastic syndrome, the findings were …
heterogeneous and affected all cell lines
In MDS, historically this pattern of abnormalities was referred to as
refractory anemia
smoldering leukemia,
oligoblastic leukemia
preleukemia
In 1982, the FAB described the disease known as
myelodysplastic syndromes (MDS)
In what year does the FAB describe the disease known as myelodysplastic syndromes (MDS)
1982
In 1997, WHO proposed a new classification that included
molecular
cytogenetic
immunologic criteria in addition to morphologic features
these are groups of acquired clonal hematologic disorders characterized by progressive cytopenias in the peripheral blood
myelodysplastic syndrome
certain subtypes of MDS have an increased risk of transforming into
acute myeloid leukemia (AML)
MDS median age of diagnosis is
76 years old
what cells are affected in MDS
erythroid
myeloid
megakaryocytic cells
it was previously believed as the cell of origin for MDS
myeloid progenitor cells
It is the true cell of origin of MDS
hematopoietic stem cells (HSCs)
it is a condition where healthy patients have clonal hematopoiesis but do not develop hematologic disorders
clonal hematopoiesis of indeterminate potential (CHIP)
how many percent of patients older than 65 have CHIP
10%
how many percent of patients older than 90 have CHIP
20%
it is a mutation that accounts for the most of the cases of MDS
De novo mutations (primary MDS)
a type of MDS that arises as a result of therapy
therapy-related MDS (t-MDS)
therapy-related MDS (t-MDS) develops after treatment with
chemotherapy or radiotherapy
median onset of t-MDS
4-7 years after therapy
examples of cytokines
G-CSF
GM-CSF
it is an aggressive type of MDS that may evolve quickly into AML
t-MDS
what bone marrow failure syndromes have significantly increased risk for developing MDS
fanconi anemia
diamond-blackfan anemia
shwachman-diamond syndrome
two morphologic findings common in MDS
progressive cytopenias
dyspoiesis in one or more cell lines
in early stage apoptosis is
increased
in late stage apoptosis is
decreased
it is called as the programmed cell death
apoptosis
common morphologic findings in dyserythropoiesis is
oval macrocytes
in MDS there is normal level of
vitamin b12 and folate
morphologic evidence of dyserythropoiesis in PBS
oval macrocytes
hypochromic microcytes
dimorphic red blood cells population
morphologic evidence of dyserythropoiesis in BM
RBC precursors with more than one nucleus
RBC precursors with abnormal nuclear shapes
RBC precursors with uneven cytoplasmic staining
Ring sideroblasts
is suspected when there is a persistence of basophilia in the cytoplasm
dysmyelopoiesis
agranular bands can be easily misclassified as
monocytes
in the bone marrow, dysmyelopoiesis may be represented by
nuclear-cytoplasmic asynchrony
morphologic evidence of dysmyelopoiesis
persistent basophilic cytoplasm
abnormal granulation
abnormal nuclear shapes
uneven cytoplasmic staining
these cells reside in the endosteal surface of the bone marrow
myeloblasts
promyelocytes
it is where the platelets exhibits dyspoietic morphology in the peripheral blood.
dysmegakaryopoiesis
morphologic evidence of dysmegakaryopoiesis in PBS
giant platelets
platelets with abnormal granulation
circulating micromegakaryocytes
morphologic evidence of dysmegakaryopoiesis in BM
large mononuclear megakaryocytes
micromegakaryocytes or micromegakaryoblast
abnormal nuclear shapes of micromegakaryocytes or micromegakaryoblast
it is not sufficient evidence for MDS
dysplasia
cases where it also causes pancytopenia and dysplasia
vitamin b12 deficiency
folate deficiency
fanconi-anemia
congenital dyserythropoietic anemia
parvovirus b19
it can cause reversible myelodysplasia
copper deficiency
what are the abnormal cellular functions
granulocytes with decreased adhesion
deficient phagocytosis
decreased chemotaxis
impaired microbicidal capacity
decreased myeloperoxidase/alkaline phosphatase
short RBC survival
decreased response to erythropoietin
what are the FAB classifications
refractory anemia (RA)
refractory anemia with ring sideroblast (RARS)
refractory anemia with excess blast (RAEB)
chronic myelomonocytic leukemia (CMML)
refractory anemia w/ excess blast in transformation (RAEB-t)
requirement percentage of dysplastic cells for the diagnosis of MDS according to WHO
10%
classification of MDS according to WHO in 2016
MDS-SLD
MDS-MLD
MDS-RD
MDS-EB
MDS with isolated del(5q)
MDS-unclassifiable
a MDS classification where dysplasia must be present in at least one myeloid lineage
MDS-SLD
symptoms of MDS-SLD
cytopenia
fatigue
shortness of breath
neutropenia
petechiae
bruising
thrombocytopenia
characterized by one or more cytopenias, dysplasia in two or more myeloid cell lines
MDS-MLD
in MDS-MLD the myeloblast does not contain
auer rods
a MDS that contain auer rods
MDS-EB-2
it reflects the influence of mutations SF3B!
MDS-RB
in MDS-RB what is gene is mutated
SF3B1
it accounts for 3-10% of all MDS cases with median age of presentation of 71
MDS-RS-SLD
MDS-RD-SLD accounts for what percent of all cases and what is the median age of presentation
3-10% and 71 years old
MDS-EB-1 blast percentage in the BM
5-9%
MDS-EB-2 blast percentage in the BM
10-19%
a type of MDS that is the only WHO-recognized with a defining cytogenetic abnormality
MDS-with isolated del(5q)
it has proven to be effective in patients with isolated del (5q)
thalidomide analog lenalidomide (revlimid)
refers to subtypes of MDS that initially lack the specific changes necessary for classification into other MDS subtypes
MDS-unclassifiable (MDS-U)
a subtype of MDS where patients have an increased frequency of specific inherited gene mutations such as RUNX1, SOS1, GATA2, ANKRD26
childhood myelodysplastic syndrome
gene mutated in childhood myelodysplastic syndrome
RUNX1
SOS1
GATA2
ANKRD26
it is a category where there is a presence of characteristics found in MDS/MPN
MDS/MPN category
what are the MDS/MPN classifications
chronic myelomonocytic leukemia (CMML)
atypical chronic myeloid leukemia (aCML)
juvenile chronic myelomonocytic leukemia (JMML)
MDS-MPN with ring sideroblast and thrombocytosis
MDS/MPN-U
it is where the BCR/ABL1 fusion gene is not present
atypical chronic myeloid leukemia
it exhibits pelger-huet-like cells, hypogranularity, and bizarre segmentation
atypical chronic myeloid leukemia
a clonal disorder characterized by the proliferation of the granulocytic and monocytic cell lines
juvenile myelomonocytic leukemia (JMML)
it is a clonal disorder that affects 1 month - 14 years of age
juvenile myelomonocytic leukemia (JMML)
the mutation in JMML affects what pathway
RAS/MAPK pathway
JMML has a strong association with what congenital disorder?
noonan syndrome
neurofibromatosis type 1
it is a clonal disorder often associated with a mutation in SF3B1 and JAK2 V617F
MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T)
classification is used for cases that meet the criteria for MDS/MPN but do not fit into one of the aforementioned subcategories
MDS/MPN, unclassifiable
it is a term that describes changes in gene expression that occur without altering the DNA sequence
epigenetics
