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Vysis BCR/ABL1/ASS1 Tri-Color DF FISH Probe Kit

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Product Probe Description

Probe Name Probe Location Fluorophore
Vysis LSI ASS-ABL 9q34 SpectrumOrange
Vysis LSI BCR 22q11.2 SpectrumGreen
Vysis LSI ASS-ABL 9q34 SpectrumAqua

Product Description

The Vysis BCR/ABL1/ASS1 Tri-Color DF FISH Probe Kit is intended to detect the t(9;22)(q34;q11.2) reciprocal translocation involving the BCR and ABL1 gene regions using the fluorescence in situ hybridization (FISH) technique.

The t(9;22) translocation which fuses the BCR gene on chromosome 22q11.2 and the ABL1 gene on chromosome 9q34 is observed by cytogenetics in greater than 80% of patients with chronic myelogenous leukemia (CML).1 In CML cases lacking a cytogenetically detectable translocation, the BCR/ABL1 fusion can still almost always be detected by FISH or other molecular techniques. BCR/ABL1 fusions also occur in a portion of acute lymphocytic leukemia cases and more rarely in acute myeloid leukemia.2 In about 15 to 20 percent of CML cases, the t(9;22) results in the loss of genetic material flanking the BCR and/or ABL1 breakpoints on the derivative 9 chromosome.1,3 This loss can prevent the production of the highly specific two-fusion signal patterns expected of dual fusion probes and balanced translocations. If both BCR and ABL1 targets are deleted on the der(9) chromosome, low-level random overlap of orange and green signals within normal cells (producing a 1 orange, 1 green, 1 fusion pattern) cannot be discriminated from low-level true BCR/ABL1 fusions producing the same pattern. The Tri-Color design of this test uses a probe in a third color (aqua) on the centromeric side of the ABL1 breakpoint, which co-localizes with the orange signal in a random orange/green signal fusion, but is absent from a true BCR/ABL1 molecular fusion on the der(22) chromosome. The probes in this kit have been used in published papers to detect low levels of positive cells in CML patients who were undergoing therapy and had deletions of FISH signals on the derivative chromosome 9.1,3

Results of Hybridization

Hybridization Image Normal
Nucleus showing the two aqua/orange and two green signal pattern.
Hybridization Image Abnormal
Nucleus showing the one aqua/orange, one green, and one orange/green fusion (yellow) signal pattern.

Probe Maps

Probe-Map-LSI-ASS1-ABL1-Dual-Fusion

The approximately 671 kb SpectrumOrange LSI ABL1 probe spans the ABL1 and ASS1 genes on chromosome 9q34. The approximately 329 kb SpectrumAqua LSI ASS1 probe overlays with part of the area covered by the SpectrumOrange probe, spans the ASS1 gene and lies centromeric to the ABL1 gene breakpoint regions.

 

Probe-Map-LSI-BCR-Dual-Fusion-22q11.2

The SpectrumGreen LSI BCR probe consists of two probes located at chromosome 22q11.2. The centromeric segment of the SpectrumGreen probe is approximately 579 kb and contains the majority of the BCR gene. The telomeric segment of the SpectrumGreen probe is approximately 645 kb and it lies telomeric to the BCR gene breakpoint region. There is an approximate 326 kb gap between the two green probes.


Ideograms

Vysis_LSI_BCR_ABL_9q34/Ideogram_9q34_LSI_ASS-ABL.jpgVysis_LSI_BCR_ABL_9q34/Ideogram_22q11.2_LSI_BCR.jpg

Reference:

1. Smoley SA, Brockman SR, Paternoster SF, et al. A novel tricolor, dual-fusion fluorescence in situ hybridization method to detect BCR/ABL fusion in cells with t(9;22)(q34;q11.2) associated with deletion of DNA on the derivative chromosome 9 in chronic myelocytic leukemia. Cancer Genet Cytogenet. 2004;148(1):1-6.

2. Primo D, Tabernero MD, Rasillo A, et al. Patterns of BCR/ABL gene rearrangements by interphase fluorescence in situ hybridization (FISH) in BCR/ABL leukemias: incidence and underlying genetic abnormalities. Leukemia. 2003;17(6):1124-9

3. Siu L, Ma E, Wong WS, et al. Application of tri-colour, dual fusion fluorescence in situ hybridization (FISH) system for the characterization of BCR-ABL1 fusion in chronic myelogenousleukaemia (CML) and residual disease monitoring. BMC Blood Disord. 2009;9:4.

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