BCR/ABL(ABL1) Translocation, Dual Fusion
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.
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.