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Ann's M2M - Weeks 3, 4 > Cytogenetics - Dr. Swisshelm L1 > Flashcards

Cytogenetics - Dr. Swisshelm L1 Flashcards

0
Q

In FISH, __________ are used to identify particular chromosomal regions or rearrangements (translocations) or to diagnose presence of an abnormal chromosome number.

A

DNA probes specific for individual chromosomes, chromosomal regions or genes

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1
Q

FISH stands for…

A

Fluorescence in situ hybridization

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2
Q

What phase of cell division must a cell be in for FISH to be utilized?

A

metaphase or interphase

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3
Q

_________ probes are used to determine the number of copies of a particular chromosome.

A

Alpha-satellite family

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4
Q

By utilizing probes with different ____________ allows detection of multiple probes simultaneously.

A

fluorochromes

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5
Q

Array-based comparative genome hybridization can asses relative copy number of DNA sequences but cannot detect _______.

A

translocations or rearrangements

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6
Q

What is a copy number polymorphism?

A

a.k.a. CNV = structural variation in DNA
Variation in the number of copies of larger segments of the genome
segments range from 200 bp to 2Mb
can be pathogenic or part of normal human variation

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7
Q

What technology is able to detect CNP’s?

A

Array comparative genome hybridization (CGH)

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8
Q

A common finding in childhood B-cell acute lymphoblastic leukemia (ALL) with a good prognosis is _________ revealed by ________.

A

high hyper-diploidy

chromosome and FISH analyses

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9
Q

t(9;22) is diagnostic for what?

A

Chronic Myelogenous Leukemia (CML)

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10
Q

Treatment for CML is ________.

A

Tyrosine kinase inhibitors (Gleevec)

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11
Q

PML is treated with

A

retinoic acid

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12
Q

t(15;17) is diagnostic for ______.

A

a specific Acute Promyeloid Leukemia (PML)

PML/RARa translocation

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13
Q

What is the centromere (cen) FISH probe used for?

A

Enumeration - Leukemias
ex: Cen 4, 8, 10, 17, 21
ALL panel, prenatal dx

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14
Q

What is the Locus Specific (LIS) FISH probe used for?

A

Deletion - leukemias

ex: p53

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15
Q

What is the Fusion (F) or Dual Fusion (DF) FISH probe used for?

A

Translocations - leukemias
ex: BCR-ABL
PML-RARalpha

16
Q

Low, hypodiploidy versus
High hyperdiploidy (specifically trisomy 4, 10 or 17)
in pediatric cases of B-cell ALL
What is the prognosis for each?

A

Low, hypodiploidy = Poor prognosis
loss of tumor supressor genes

High, hyperdiploidy = Good prognosis

17
Q

The fusion of which two chromosomes / genes cause CML?

A

Chronic Myelogenous Leukemia is caused by fusion of chromosomes 9 and 22 as follows:

BCR-ABL t(9;22)(q34;q11.2)

18
Q

How long is a FISH probe usually?

A

200 bp

19
Q

What is the Break Apart (BAP) FISH probe used for?

A

Translocation, rearrangement

ex: MLL (cancer)

20
Q

What is the Whole Chromosome Paint (WCP) FISH probe used for?

A

Identifying markers, translocations
ex: WCP 1-22, X, Y
(all studies)

21
Q

What does BCR in the BCR-ABL fusion stand for?

A

Breakpoint Cluster Region

is a region of DNA that has a lot of points where the DNA breaks

22
Q

Why is it possible to have multiple trisomies in the following genotype:
55, XX, +X, +4, +6, +10, +14, +17, +18, +21[9] / 46, XX[10]

What is the prognosis and why?

A

This is a case of mosaicism. Extra copies of chromosomes X, 4, 6, etc. are seen in some but not all cells. The other (non-cancer) cells have genotype 46, XX[10] meaning that chromosome 10 is fused with chromosome X

Since hyperdiploidy ALL >50, prognosis is good.

23
Q

What is the distinctive histological finding in cells of APL?

A

Auer rods

a protein precipitate unique to APL cells

(Acute Promyelocytic leukemia a.k.a. PML)
(Swisshelm Slide)

24
Q

AML stands for…

A

Acute Myeloid Leukemia
seen more commonly in adults (but children / young adults also)
4% of all leukemias

25
Q

What does fusion of PML and RARalpha do to trxn?

A

When fused they act as repressors and block cell differentiation.

Treatment with retinoic acid switches the complex to coactivators and allows for cell differentiation

26
Q

What are some of the advantages of CMA?

A

-detect chromosomal gains and losses
-detect hot-spot abnormalities (ex: 22q11.2 DiGeorge syndrome; subtelomeres)
-detect genome-wide abnormalities; the backbone of the genome
-helps to characterize abnormalities detected by karyotyping
ex; the specific size of an imbalance & the genes involved

28
Q

A common finding in childhood B-cell leukemia with poor prognosis is _______________ revealed by __________.

A

low hypodiploidy

FISH and chromosomal analysis

29
Q

Leukemia can arise in any of the ___________ cells in the __________ pathway. It is usually a mutation that blocks __________ of cells.

A

progenitor
hematopoetic
differentiation

30
Q

t(8,21) is diagnostic for…

A

AML M1/M2
fusion of the ETO gene on 8q22 and AML1 gene on 21q22
no biologic therapy available
chemotherapy

Ann's M2M - Weeks 3, 4 (22 decks)

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