BCR/ABL(ABL1) Translocation, Dual Fusion
- ABL1, 9q34.11-q34.12, Red
- BCR, 22q11.22-q11.23, Green
The BCR probe mix contains a probe, which extends 169kb centromeric to BCR and contains the genes GNAZ and RAB36. A second probe covers a 148kb region, which is positioned 261kb telomeric to BCR. Both are labelled in green and are orientated such that breakpoints in either mBCR or MBCR will result in a fusion signal. For ABL1, a probe contig covers 346kb from the middle of the FUBP3 gene to a point 64kb telomeric to ABL1 and it is labelled in red. There is an additional probe that covers a 173kb region and spans the whole ASS1 gene. The ASS1 probe is located 212kb from centromeric end of the ABL1 gene.
The presence of the Philadelphia chromosome (Ph) has important diagnostic and prognostic implications in a number of haematological disorders. The abnormality is characteristic of Chronic Myeloid Leukaemia (CML), found in around 90% of cases, but also represents a significant abnormality in 30% of adult and 2 to 10% of childhood Acute Lymphoblastic Leukaemia (ALL) cases1,2,3,4,5. This rearrangement is also seen in rare cases of Acute Myelogenous Leukaemia (AML)6. As a result of the Philadelphia translocation, t(9;22)(q34.12;q11.23), the ABL1 (Abelson) proto-oncogene and the BCR (Breakpoint Cluster Region) gene fuse, giving rise to the BCR/ABL1 fusion gene. In ALL, the rearrangement is associated with an extremely poor outcome with only 20-30% of Philadelphia chromosome positive (Ph+) children being cured with chemotherapy alone7. Allogeneic bone marrow transplantation is the only curative therapy for these patients. In a small number of cases of ALL, the translocation does not result in a cytogenetically visible Philadelphia chromosome. In these cases, FISH is essential for highlighting the fusion gene8. Ph+ Acute Myeloid Leukaemia (AML) is characterised by its resistance to conventional standard chemotherapy and poor prognosis6, so accurate and rapid identification of this chromosomal abnormality is vital.
The quality of the products we have received from Cytocell have been excellent. The FISH probes they provide to us give intense, strong signals and are a pleasure to count. What has really stood out however has been the level of support and assistance provided by Cytocell’s application specialists. The team worked very closely alongside our own during the adoption of this product and spent many hours with us perfecting the technique, going above and beyond what I would expect during the transition period. Source BioScience absolutely demand high quality products and service to be able to deliver our results with confidence, and that is what we have received from Cytocell. Neil Ryan, Laboratory Operations Manager, Source BioScience
1. Shteper et al., Leukemia 2001;15(4):575-582
2. Groffen et al., Cell 1984;36:93-9
3. Shtivelman et al., Nature 1985;315:550-4
4. Hermans et al., Cell 1987;51:33-40
5. OMIM ♯613065: http://www.omim.org/entry/613065
6. Soupir et al., Am J Clin Pathol 2007;127:642-650
7. Koo et al., Korean J Pediatr 2011; 54(3):106-110
8. Van Rhee et al., Br j Haematol 1995;90:225-8
- Area of Interest*
- ALL, CML
This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed haematological samples.
*Disease information supported by the literature and is not a reflection of the intended purpose of this product.