Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Cytogenetics Exam > Cancer Cytogenetics I - Chromosomal Abnormalities in Leukemia > Flashcards

Cancer Cytogenetics I - Chromosomal Abnormalities in Leukemia Flashcards

1
Q

Speed of progression

A

acute or chronic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Types of cells affected

A

lymphoid or myeloid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Rapidly growing leukemia (AML/ALL)

A

immature blood cells, they cannot carry out their normal blood functions, grow rapidly, rapidly progressive disease, acute leukemia requires aggressive treatment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Slow-progressive leukemia (CML/CLL)

A

Mature cells are related with disease, abnormal cells are accumulated until that is enough to cause disease, sometimes it takes several decades to cause symptoms, many cases are found during general physical exam

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Risk for most leukemias increase with

A

age

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

The median age of a patient diagnosed with AML, CLL, or CML is

A

65 or older

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

When blast cells are detected at 20% or greater in bone marrow, then _____ _____ is present

A

acute leukemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

acute leukemia is caused by

A

immature cells failing to mature

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What causes chronic leukemia

A

abnormal cells mature partially, but disease occurs because the abnormal cells never die

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

t(9;22) is associated with

A

CML, ALL, AML

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

t(8;21), inv(16), and t(15;17) is associated with

A

AML

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

what is the prognosis of 13q deletion

A

good prognosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

what is the prognosis of 17p deletion

A

poor prognosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the benefit of recurrent chromosomal abnormalities analysis in leukemia?

A

diagnosis, prognosis, monitoring disease progression, and targeted therapy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Targeted therapy for t(9;22)

A

imatinib

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Targeted therapy for t(15;17)

A

ATRA (all-transretinoic acid) and arsenic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Targeted therapy for inv(16)

A

cytarabine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Types of chromosomal abnormalities in cancer

A

copy number loss (monosomy), copy number gain (trisomy), deletion, inversion, duplication, isochromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Copy number loss associated with

A

lower expression, higher risk for disease expression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Copy number gain associated with

A

overexpression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Translocation associated with

A

at least two chromosomes involved

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Nomenclature for balanced translocation

A

“t” stands for balanced translocation, in balanced translocation the smaller chromosome # is listed first

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Nomenclature for unbalanced translocation

A

“der” stands for derivative chromosomes, the chromosome with a centromere is referenced first

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

deletion associated with

A

only one chromosome involved

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What are the two types of deletions

A

terminal and interstitial

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

terminal deletion

A

one breakpoint

27
Q

interstitial deletion

A

two breakpoints

28
Q

Nomenclature of deletions

A

use “del”, breakpoint nearest to centromere is listed first

29
Q

inversion associated with

A

Only one chromosome involved

30
Q

what are the two types of inversions

A

pericentric and paracentric inversion

31
Q

Paracentric inversion

A

does not include the centromere, and both breaks occur in one arm of the chromosome

32
Q

Pericentric inversion

A

includes the centromere and there is a break point in each arm

33
Q

Nomenclature for inversions

A

use “inv”, pericentric inversions are described from p to q; paracentric is described by whichever is closest to the centromere

34
Q

duplication associated with

A

one chromosome involved

35
Q

Nomenclature for duplication

A

use “dup”

36
Q

Isochromosome

A

mirror image chromosomes that arise when one part of the chromosome is duplicated and separated from the other).

37
Q

Monocentric isochromosomes

A

when the breakpoint occurs within the centromere (due to centromere misdivision or centric fission)

38
Q

Dicentric isochromosomes

A

occurs when the chromosomal break maps outside of the chromosome and results in two centromeres. Unstable unless one of the centromeres becomes inactivated.

39
Q

How many cells are needed to define clonal copy number loss (monosomy)?

A

Minimum of three metaphase cells with the same chromosome loss

40
Q

How many cells are needed to define clonal copy number gain (trisomy, tetrasomy)?

A

Minimum of two metaphase cells with the same chromosome loss

41
Q

How many cells are needed to define clonal structural abnormalities?

A

Minimum of two metaphase cells with the same chromosomal abnormality

42
Q

Limitations of chromosome analysis and use of FISH panel for leukemia diagnosis

A

low cell count after chemotherapy, slow growing cells in CLL, G0 arrest in CLL, low cell population in bone marrow, inv(16) & inv(3), small amounts of cells (dry tap) or bone marrow unavailable, culture is impossible, subtle changes (such as 4q12 rearrangement in eosinophilia)

43
Q

Primary event that causes CML

A

t(9;22) with BCR::ABL1 fusion/rearrangement has been seen in 90-95% patients with CML. This is called the philadelphia chromosome.

44
Q

ABL1 gene normal function

A

It is a protooncogene that functions as a non-receptor tyrosine kinase.

45
Q

When 5’BCR and 3’ABL1 are fused, the tyrosine kinase domain is constitutively activated in results in

A

increased cell proliferation, inhibits apoptosis, increases invasiveness, inhibits DNA repair, and finally causes CML

46
Q

CML is a triphasic disease, what are the three phases?

A

The chronic phase, the accelerated phase, and the blast-phase (acute leukemia)

47
Q

The chronic phase (CP) of CML is associated with

A

less than 10% blast cells, this phase can last for several years with no symptoms or mild symptoms, the t(9,22) is usually the only chromosomal anomaly

48
Q

The accelerated phase (AP) of CML is associated with

A

<15% blast in bone marrow or blood, patients become progressively impaired and develops new cytogenetic changes outside of the philadelphia chromosome

49
Q

The blast-phase (BP) of CML is associated with

A

> 30% blasts in the blood or bone marrow, it is difficult to control and usually there are many additional chromosomal abnormalities. Typically see philadelphia chromosome (Ph+), i(17q), +19, -Y, +21, +17, and monosomy 7

50
Q

Chromosomal abnormalities seen in acute lymphoid leukemia (ALL)

A

t(9;22), t(12;21), hyperdiploidy, KMT2A rearrangement, iAMP (intrachromosomal amplification of chromosome 21)

51
Q

Which test should be performed in pediatric/young adult cases of b-lineage ALL?

A

g-banded chromosome analysis should be performed simultaneously with interphase FISH analysis that includes the following probes: t(9;22), KMT2A rearrangement, t(12;21), and hyperdiploidy

52
Q

Which chromosomal abnormalities in ALL is associated with poor prognoses?

A

t(9;22) and KMT2A rearrangement

53
Q

Which chromosomal abnormalities in ALL is associated with good prognoses?

A

t(12;21), hyperdiploidy

54
Q

What is one of the most common non-random, recurrent translocation associated with childhood ALL?

A

t(12;21)(p13.2;q22.12) with ETV6::RUNX1, favorable prognosis

55
Q

chromosomal abnormalities associated with AML

A

t(8;21) with RUNX1::RUNX1T1, inv(16) and t(16;16) with CBFB::MYH11, t(15;17) with PML::RARA, and inv(3) and t(3;3) with RPN1::MECOM

56
Q

t(8;21) subtype of AML

A

its detection alone establishes the diagnosis of AML regardless of blast cell count, found in 5-10% of AML, most cases occur as a sole chromosomal change, RUNX1::RUNXT1 fusion gene product acts in a dominant negative fashion; FAVORABLE PROGNOSIS

57
Q

Inv(16)/t(16;16) with CBFB::MYH11 subtype of AML

A

its detection alone establishes a diagnosis of AML regardless of blast cell count, found in 5-10% of AML, inversion is more common (95%) than the translocation (5%), CBFB::MYH11 fusion gene prevents normal heterodimer formation (dominant negative effect), FAVORABLE PROGNOSIS

58
Q

Core-binding factor leukemias (CBFLs) - t(8;21) and inv(16)/t(16;16)

A

presence of t(8;21) with RUNX1::RUNX1T1 or inv(16)/t(16;16) with CBFB:MYH11 are defined as core-binding factor leukemias. CBF-AML have a shortage of all types of mature blood cells and usually begins in young childhood. FAVORABLE PROGNOSIS

59
Q

Inv(3)(q21q26.2)/t(3;3)(q21;q26) AML subtype

A

detected in about 1-2% of AML, inv(3) more common than t(3;3), strongly associated with multilineage dysplasia, POOR PROGNOSIS

60
Q

chronic lymphoid leukemia

A

disorder related to disruption of apoptosis of monoclonal b-lymphocyte cells

61
Q

chromosomal abnormalities associated with CLL

A

11q-, trisomy 12, 13q-, 17p-

62
Q

CLL overview

A

most common leukemia in adults, slow progress, most people are asymptomatic for years, overtime the cells metastasize to lymph nodes, liver, and spleen

63
Q

Gene associated with deletion of 11q

A

ATM

64
Q

Gene associated with deletion of 17p

A

TP53

Cytogenetics Exam (6 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions