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Liz's Hematology Module 2 > Cancer Cytogenetics > Flashcards

Cancer Cytogenetics Flashcards

1
Q

Why do we study cytogenetics?

A

Important for diagnosis, prognosis, and therapy for patients w/ leukemia

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2
Q

n = 23 c’somes

A

Haploid

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3
Q

2n = 46 c’somes

A

Euploid

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4
Q

Multiples of n (23, 46, 69)

A

Polyploidy

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5
Q

3n = 69 c’somes

A

Triploid

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6
Q

4n = 92 c’somes

A

Tetraploidy

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7
Q

Gain or loss of c’somes

A

Aneuploidy

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8
Q

Less than 46 c’somes

A

Hypoploid

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9
Q

More than 46 c’somes

A

Hyperploid

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10
Q

23-34 c’somes

A

Near haploid

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11
Q

Cell w/ 46 c’somes and structural abnormalities

A

Pseudodiploid

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12
Q

C’some w/ a translocation

A

Derivative c’some (der)

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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 c’some analysis?

A

Only cells in metaphase re used (chromatin is maximally condensed)
- Cells w/ high mitotic rate ar eusually chosen or cells that can be stimulated to divide (such as PB lymphs)

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18
Q

What three things help cytogenetists identify c’somes?

A
  • Overall size
  • Placement of centromere
  • Banding patterns
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19
Q

P and Q arms

A

P arm = petite arm (shorter)

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 c’some banding

A

Giemsa banding

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22
Q

Giemsa banding stains what areas of the c’somes?

A

A-T rich areas (not transcriptional aka late replicating)

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23
Q

G-C rich areas of the c’some are also known as what areas?

A

Light areas
G-negative
Q-dull

24
Q

A-T rich areas of the c’some are also known as what areas?

A

Dark area
G-positive
Q-bright

25
Q

From the 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 numbered staring where?

A

At the area closest to the centromere and get higher in value towards the telomere

27
Q

47, XX, +21

A

Female w/ Down Syndrome

28
Q

8 structural abnormalities

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

C’some w/ a translocation

A

Derivative c’somes

30
Q

Occurs only on acrocentric c’somes; results the fusion of two c’somes

A

Robertsonian translocation

31
Q

Relatively rare b/c 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 that involve the centromere

A

Pericentric inversions

34
Q

Inversions that don’t include the centromere

A

Paracentric inversions

35
Q

Division of c’somes is perpendicular to their long axis instead of parallel

A

Isochromosome

36
Q

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

A

Ring c’some

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 w/ 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 w/ 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 Kinease; “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

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

A 
Favorable = children
Poor = adults

Liz's Hematology Module 2 (13 decks)

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