Week 3 - Cytogenetics Activity 2 Flashcards

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1
Q

Outcome of t(15:17)

A

Observed in Acute Promyelocytic Leukaemia
The two genes involved in this abnormality are: PML and RARα
The chromosomal abnormality result in AML as it produces a novel hybrid fusion gene
This is associated with a favourable prognosis

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2
Q

Outcomes of Trisomy 8

A

There is amplification of an oncogene

This is associated with an intermediate response

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3
Q

Outcomes of t(8:21)

A

The two genes involved in this chromosomal abnormality is the RUNX1 and RUNX1T1
The chromosomal abnormality results in AML as it produces a novel hybrid fusion gene
This is associated with a favourable prognosis

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4
Q

Outcome of inv(16)

A

The two genes associated with this chromosomal abnormality are CBFβ and MYH11
This abnormality results in AML as it produces a novel hybrid fusion gene
This is associated with a favourable prognosis

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5
Q

Outcome of t(9:22)

A

Commonly seen in chronic myeloid leukaemia (CML)
This chromosomal banomality results in the fusion of the BCR-ABL1 gene
- the chimeric protein produced by the BCR-ABL1 fusion gene dysregulates proliferation

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6
Q

Outcome of t(14:18)

A

Commonly seen in follicular lymphoma and non-Hodgkins lymphoma
Results in juxtaposition of the BCL2 gene with IGH@ causing de-regulated expression of BCL2
- BCL2 is an oncogene that regulates apoptosis
- therefore de-regulation by IGH@ causes inhibition of apoptosis which leads to increased proliferation

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7
Q

Outcome of Double Minutes

A

Commonly seen in cases of AML
Causes amplifcation leading to oncogene over expression
- amplification of c-myc
- myc is an oncogene involved in transcription regulation
- its expression is amplified with multiple copies present in dmins
- confirmed by FISH

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8
Q

Outcome of t(8:14)

A

Mostly observed in Burkitt’s lymphoma
Results in juxtaposition of myc gene with IGH@ causing de-regulated expression of myc
- myc is a regulator of transcription and encodes for a transcription factor
- its over expression leads to increased proliferation

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