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Hematology Module 2 > Cancer Cytogenetics Lecture > Flashcards

Cancer Cytogenetics Lecture Flashcards

1
Q

Why do we study cytogenetics?

A

Important for proper diagnosis, prognosis, and therapy for patients with leukemia

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2
Q

n or 23

A

Haploid

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3
Q

2n or 46

A

Euploid

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4
Q

multiples of n (23, 46, 69…)

A

Polyploidy

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5
Q

3n or 69 chromosomes

A

Triploid

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6
Q

4n or 92 chromosomes

A

Tetraploidy

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7
Q

Gain or loss of chromosome

A

Aneuploidy

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8
Q

less than 46 chromosomes

A

Hypodiploid

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9
Q

More than 46 chromosomes

A

Hyperdiploid

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10
Q

*

A

Near haploid

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11
Q

*

A

Pseudodiploid

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12
Q

*

A

Derivative chromosome

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13
Q

Clonal proliferations of malignant leukocytes that arise initially in the bone marrow before disseminating to the peripheral blood, lymph nodes and other organs

A

Leukemia

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14
Q

DNA double helix looped around histone proteins

A

Nucleosome

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15
Q

Twisting of nucleosomes into a chromatin thread

A

Solenoid

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16
Q

Name the 5 processes of the Cell cycle and know what they do

A 
G0- resting/quiescence
G1- Growth before DNA synthesis
S - DNA Synthesis 
G2 - Growth 
M - Division occurs (PMAT)
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17
Q

What cells are used for collection of specimens for chromosome analysis?

A

only cells in metaphase (cells with a high mitotic rate)

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18
Q

How are chromosomes identified?

A
  • overall size
  • placement of centromere
  • banding patterns
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19
Q

P arm-

q arm

A

p arm petite arm - shorter arm

q arm - longer arm

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20
Q

What chemical is added to dividing cells to arrest them in metaphase

A

Colcemid (derivative colchicine)

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21
Q

Most common method of chromosome banding

A

Giemsa Banding

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22
Q

Giemsa Banding stains what areas of the chromosomes?

A

A-T rich areas

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23
Q

A-T rich regions of the chromosome are also known as what areas (3)

A

Dark areas
G-Positive
Q-Positve

24
Q

G-C rich regions of the chromosome are knows as what areas? (3)

A

Light Areas
G-Negative
Q- Dull

25
Q

From left to right name the karyotype nomenclature

A
  • Modal number of chromosomes in the cell
  • Sex chromosome designation
  • Chromosomes
  • Arm
  • Band
  • Sub-band
26
Q

Regions, bands, and sub-bands are number starting where?

A

at the area closes to the centromere and get higher in value towards the telomere

27
Q

47, XX, +21

A

Female with Down Syndrome

28
Q

Structural Abnormalities

8

A
  • Translocation
  • Robertsonian Translocation
  • Insertion
  • Inversion
  • Deletion
  • Duplication
  • Isochomosome
  • Marker chromosome
29
Q

Chromosome with a translocation

A

Derivative Chromosome

30
Q

Occurs only on acrocentric chromosomes; results the fusion of two chromosomes

A

Robertsonian Translocation

31
Q

Relatively rare because three separate breaks are required

A

Insertion

32
Q
  • Interstitial involved two breaks and the loss of a segment between the breaks
  • Terminal involve only one break
A

Deletion

33
Q

Inversions involve the centromere

A

Pericentric Inversions

34
Q

Inversions that do not include the centromere

A

Paracentric Inversions

35
Q

Division of chromosomes is perpendicular to their long axis instead of parallel

A

Isochomosome

36
Q

Results from the breakage and rejoining of the end of a chromosome (usually results in partial monosomy)

A

Ring Chromosome

37
Q

What is a molecular cytogenetic test that utilizes fluorescently labeled probes that are hybridized to metaphase or interphase cells

A

FISH - Flourescence in Situ Hybridization

38
Q

You do not need _______ to perform FISH

A

dividing cells

39
Q

________ results from multiple and sequential genetic mutations in a somatic cell. At some juncture, a critical mutation occurs and the cell becomes self-perpetuating (aka clonal)

A

Cancer

40
Q

What is a cell population derived from a single progenitor

A

Clone

41
Q

How do cytogenetics identify clones

A
  • 2 or more cells contain the same structural abnormality or supernumerary marker chromosomes
  • 3 or more cells are missing the same chromosomes
42
Q

What aberration frequently found as the sole karyotype abnormality associated with a particular tumor? Aka “stem-line”

A

Primary Aberration

43
Q

Aberration that is rarely found alone and develops in cells already carry a primary aberration

A

Secondary Aberration

44
Q

t(8;21)(q22;q22.3) RUNX1T1 (ETO)/RUNXX1

A

AML with Maturation

45
Q

t(15;17)(q24;q21.1) PML/RARA

A

Acute Promyelocytic Leukemia (APL or PML)

46
Q

inv(16)(p13q22)

A

AML with abnormal bone marrow eosinophils

47
Q

t(9;22)(q34;q11.2) CVR/ABL1

know the two names

A

Chronic Myelogenous Leukemia (CML) and/or Philadelphia Chromosome

48
Q

t(16;16)(p13;q22)

A

AML with abnormal bone marrow eosinophils

49
Q

Who discovered that (9;22) is responsible for CML and that t(8;22) is responsible for AML?

A

Janet Rowley

50
Q

What is the drug to treat CML?

A

Imatinib

51
Q

The BCR-ABL Gene codes for ______ ______ that is perpetually turned “____”

A

tyrosine kinase

“on”

52
Q

The BCR-ABL gene leads to rapid progression through the cell cycle and thus rapid and uncontrollable cell ________.

A

proliferation

53
Q

What prevents phosphorylation of the BCR-ABL TK?

A

Imatinib

54
Q

SNP allows for much greater resolution than what?

A

karyograms and FISH

55
Q

**Three ways that that chromosomes are identified by cytogenetists?

A

?

56
Q

Hyperdiploidy provides favorable prognosis for ALL in ______ but a poor prognosis in _____.

A 
favorable = children 
poor = adults

Hematology Module 2 (14 decks)

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