Week 3 - Cytogenetics Activity 2 Flashcards
Outcome of t(15:17)
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
Outcomes of Trisomy 8
There is amplification of an oncogene
This is associated with an intermediate response
Outcomes of t(8:21)
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
Outcome of inv(16)
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
Outcome of t(9:22)
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
Outcome of t(14:18)
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
Outcome of Double Minutes
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
Outcome of t(8:14)
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