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BCR/ABL(ABL1) Plus Translocation, Dual Fusion

Applications
haematology
Catalogue Numbers
LPH 038-S (5 tests)
LPH 038 (10 tests)

Probe Specification

  • ABL1, 9q34.11-q34.12, Red
  • BCR, 22q11.22-q11.23, Green
  • ASS1, 9q34.11-q34.12, Blue

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 blue 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.

Probe Information

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.

I first came across Cytocell FISH probes in a previous lab I worked in and I was struck by the quality of the products. Since this time, I have been recommending and introducing Cytocell probes across all application areas — now they are the primary FISH probes used in our lab. They have an excellent range of products and their ready-to-use reagent format saves considerable time. As a matter of fact, at a recent conference there was a discussion about the lack of commercial probes for a particular disorder and I was happy to point the participants in the direction of the Cytocell catalogue, which contains the exact probes required. Elizabeth Benner, Medical Technologist at the University of Arizona Health Network

References

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

Microscope Images

BCR ABL Plus Translocation Dual Fusion magnified
Area of Interest*
ALL, CML

Disclaimer

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.