UNIT 2.1 Flashcards
1
Q
Most neoplasms of the hematopoietic system are _______ genetic diseases.
A
acquired
2
Q
Originate from BM
Peripheral Blood, lymphoid tissues
(spleen, liver, Lymph Nodes), and
other organs and tissues of the
body
A
leukemias
3
Q
Solid tumors originating from the
lymphatic system (and proliferate in
lymph nodes)
Other lymphoid organs and tissues,
PB
A
lymphomas
4
Q
Immature blood cells in BM do not mature
A
MDS
5
Q
discovered in 1960 by Nowelle & Hungerford
○ Observed consistently shortened
chromosome
○ In 1973, Janet Rowley discovered the
translocation of chromosomes 9 and 22
A
CML
t9;22
6
Q
discovered in 1983
A
BURKITT
t8:14
7
Q
These anomalies can affect all cell lineages and can
affect all stages of cell development
A
TRUE
8
Q
- myeloid lineage
- granulocytes cells
-monocytic cells
- megakaryocytic cells - lymphoid linegae
A
leukemias
9
Q
leukemias are further subdivided:
A
acute - precursor
chronic- mature
10
Q
Precursor cell or
blast
A
acute
11
Q
Sudden
Rapid
progression
A
acute
12
Q
Insidious
Slow
progression
A
chronic
13
Q
Longer survival
compared to
acute (months
to years)
A
chronic
14
Q
Increased or
elevated with
maturing cells
A
chronic
15
Q
Fatal in weeks or
months (left
untreated)
A
acute
16
Q
Variable with
increased
precursor
hematopoietic
cells (maturation
arrest) or blasts
of a specific
lineage
A
acute
17
Q
Blasts increase in
bone marrow
Bleeding
(thrombocytopenia - ↓ platelet
count)
Fever
(neutropenia)
Fatigue (anemia)
A
acute
18
Q
WBC precursor in acute leukemias increase due to the
block in differentiation called
A
maturation arrest
19
Q
_______number of blasts in BM causes decreased
platelet, neutrophils, and RBCs in acute leukemia.
A
increased; decreased
20
Q
are often diagnosed incidentally. The
patient is often suffering from another disease that
elevates their WBC count.
A
chronic leukemia
21
Q
more common in children
A
ALL
22
Q
more common in adults
A
CLL/MDS
23
Q
etiology of hematologic neoplasms
A
- unknown
- viruses
- hereditary
24
Q
adult T cell
leukemia/lymphoma
A
HTLV-1 (CD4 invaders
25
Burkitt
lymphoma, NHL, subset of HL (affects
B cells)
epstein barr (DNA virus)
26
increase risk of NHL
HIV-1 (immunosuppression)
27
FA gene mutation
fanconi’s anemia
28
genes for
telomerase maintenance
Dyskeratosis congenita
29
TP53 mutation
Li- Fraumeni syndrome:
30
Promotes cell cycle arrest and
apoptosis when damaged DNA
cannot be repaired
TP53 (molecular policeman)
31
mutation in ATM
Ataxia telangiectasia -
32
Viruses can lead to genetic or epigenetic
patients or produce oncoproteins which
interfere with normal cell processes
responsible for protection against malignant
transformation
TRUE
33
An example of a DNA virus that can
invade B cells or B lymphocytes.
epstein-barr virus
34
A type of
congenital bone marrow failure
syndrome caused by a mutation
in the FA gene, which is
necessary for DNA repair.
fanconi anemia
35
disorder caused by a mutation
in the genes for telomerase.
dyskeratosis congenita
36
Caused
by a mutation in TP53, also
known as the "molecular
policeman"
, which is
responsible for promoting cell
cycle arrest and apoptosis when
there is irreparable DNA
damage
li-fraumeni syndrome
37
is a component of the
DNA damage response
signaling pathway.
ataxia-telangiectasia
38
Patients with
Down Syndrome have an
increased risk of leukemia.
TRUE
39
FAB Classification
-morphological characteristics
- cytochemical characteristics
- clinical features
40
Enzymatic markers:
1. MPO (Myeloperoxidase)
2. Tartrate-resistant acid
phosphatases
3. Specific and non-specific esterases
41
non-enzymatic marker
Sudan Black
42
In epigenetics, the DNA sequence remains
unchanged, but the expression of the gene is
altered due to inherited abnormalities.
TRUE
43
Independent mutations or multiple mutations
("multi-hits") can affect different cell cycle
pathways.
leukemogenesis
44
signal transduction
proteins/ growth factor receptor)
uncontrolled proliferation
45
(cell cycle protein/checkpoint control protein)
Loss of DNA repair capability and cell cycle control
46
(nuclear transcription factors)
Block in differentiation
47
(pro-apoptotic proteins)
Continued cell survival and inhibition of apoptosis
48
responsible for regulating the cell cycle
cell cycle proteins
49
responsible
for halting the cell cycle when DNA damage
is detected
checkpoint cycle proteins
50
In epigenetic mechanisms, there is no alteration in
the gene sequence, but the problem lies in gene
expression.
TRUE
51
Hypomethylation and hypermethylation of genes
and other non-coding DNA regions by DNA
methyltransferases lead to the inhibition of gene
transcription and expression.
DNA methylation
52
Leads to the closing of DNA activity, reducing
gene expression.
histone acetylation
53
are very small messenger RNAs,
consisting of only 22 nucleotides.
○ These RNAs inhibit gene expression by specifically binding to messenger RNA (mRNA).
○ This binding blocks mRNA translation, preventing
protein production.
micro RNAs
54
Originally were identified in tumor-forming retroviruses
Derived from protooncogenes (normal human cellular
homologues)
Responsible for normal cellular function
oncogenes
55
structural mutation
qualitative mutation
56
Translocation that results in a chimeric
fusion gene
■ Forms the BCR-ABL1 fusion gene in
CML and in some cases of acute
lymphoblastic leukemia
Philadelphia chromosome t (9;22) – CML
57
Encodes a nonreceptor tyrosine
kinase associated with the
intracellular domain of growth
factor receptors and normally
transmits an intracellular signal for
proliferation when the appropriate
growth factor ligand binds to the
extracellular domain of the
receptor.
JAK-2 point mutation- Polycythemia vera
58
FLT3 codes for a receptor tyrosine
kinase expressed on the
membrane of hematopoietic stem
and progenitor cells (promotes
hematopoietic cell proliferation
and differentiation when bound
with its ligand)
FLT gene mutation – AML
59
overexpression of
protooncogene
quantitative defect
- follicular lymphoma
- mantle cell lymphoma
60
t(18;14), Overexpression
of BCL2 gene
follicular lymphoma
61
t(11;14),
overexpression of CCND1
mantle cell lymphoma
62
Increase copy of the gene occurs such as
trisomy.
gene amplification
63
The mutation causes continuous and unregulated
activation of oncogenes,
gain of function
64
normally found in chromosome 18
○ It inhibits apoptosis.
BCL2 gene - C18
65
normally seen in chromosome 11
○ It codes for cyclin D1 which is involved in the
regulation of cell cycle
CCND1 - C11
66
Protect cells from malignant transformation
when inactivated or deleted (loss of function)
○ Slows down cell division
○ Promotes apoptosis
tumor suppressor genes
67
Gene deletion
○ Inactivating mutation
○ Epigenetic silencing
loss of function
68
inactivation of TP53
Li- fraumeni syndrome
69
RB1
Familial retinoblastoma
70
WT 1
wilms tumor
71
opposite of function of
protooncogenes when they are activated.
tumor suppressor genes
72
are deleted or inactivated in
sporadic cases of cancer which include hematologic
neoplasms. This would lead to accumulation of
additional mutations and more clinically aggressive
state.
tumor suppressor genes
73
Not only given to patients who are suffering from
hematologic neoplasms. This is also given to patients who suffer from other types of cancers.
chemotherapy
74
decrease number of cancer
cells rapidly and achieve remission
induction
75
In leukemia chemotherapy, there are
three types of remission:
hematologic remission
cytogenetic remission
molecular remission
76
would include normal BM
picture, normalcy in counts in
peripheral blood, and absence
of any evidence of leukemic
cells
hematologic remission
77
absence of cytogentic defects
as seen when karyotyping is
performed
cytogenetic remission
78
absence of leukemia cells
nucleic acid sequences using
highly sensitive procedures
capable of detecting single
leukemia cells among millions
of normal cells
molecular remission
79
absence of leukemia cells
nucleic acid sequences using
highly sensitive procedures
capable of detecting single
leukemia cells among millions
of normal cells
molecular remissiom
80
uses different
chemotherapy agents to further decrease
the number of leukemia cells
consolidation
81
Done because after hematologic
remission, there would still be quite a
big number of leukemic cells not
detected in the body.
minimal residual disease.
82
patients are given less
intense agents that would destroy or
eliminate any remaining leukemia cells so
relapse would be prevented
maintenance
83
Uses unstable ion that would have toxic effect on
cells causing damage or death of the cells.
radiation therapy
84
first drug produced and is
used for the treatment of leukemia, specifically
for chronic myelogenous leukemia
Imatinib Mesylate
85
given to patients with
acute promyelocytic leukemia
All-trans retinoic acid
86
anti-CD20 drug; targets CD20
present in lymphocytes to inactivate cellular
activities that causes Hodgkin lymphoma and
chronic lymphocytic leukemia
rituximab
87
anti-CD22 monoclonal
antibody conjugated with an antibiotic with
cytotoxic activity
inotuzumab
88
Most effective treatment for blood disorders
Previously called
hematopoietic stem cell transplant (HSCT) bone marrow transplant
89
from an identical twin
syngeneic donor
90
from HLA-identical sibling or
HLA-matched unrelated donor
allogenic
91
from HLA-identical sibling or
HLA-matched unrelated donor
allogenic
92
patient’s bone marrow or
peripheral blood stem cells are used
autologous
93
Complicated; patient and donor would have to
undergo matching, especially the allogeneic ones.
○ Patient should be placed in a sterile environment
during the process of growing the bone marrow.
TRUE
94
stepwise progression of mutations (multiple hits), that give leukemic stem cells a proliferative advantage and also hinder differentiation
leukemia
95
group of special staining that
is used to differentiate types of leukemia.
cytochemical stain
96
group of special staining that
is used to differentiate types of leukemia.
cytochemical stain
97
Initial criteria that enable us to detect leukemia:
presence of blasts
98
Gain of function mutations
proto-oncogenes
99
Loss of function
mutations
tumor suppressor genes
