BCR/ABL(ABL1) Plus 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.
The translocation between chromosomes 9 and 22 can be accompanied by loss of proximal sequences on the derivative chromosome 97. The deletion encompassing the ASS1 gene is associated with poor prognosis, though this may be partially abrogated by treatment with imatinib8. Therefore, the establishment of the atypical patterns in the BCR/ABL1 translocation may have clinical diagnostic and prognostic implications.
1. Shteper et al., Leukemia 2001;15(4):575-582
2. Groff en 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. Robinson et al., Leukemia 2005;19(4):564-71
8. Siu et al., BMC Blood Disorders 2009;9:4
- 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.