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Product summary

  • Technology FISH
  • Application Haematology
  • Areas of interest ALL, CML
  • Region 9q34.11-q34.12
    22q11.22-q11.23
  • Label    
  • Product No. LPH 007 (10 tests)
    LPH 007-S (5 tests)
  • Intended use In vitro diagnostic. 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.

Chromomaps

Overview

Probe specification

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

The BCR/ABL1 probe mix contains a 169kb green probe centromeric to the BCR gene and covers the genes GNAZ and RAB36. A second green probe covers a 148kb region that includes the telomeric end of the IGLL1 gene and the flanking region beyond. A red probe covers a 346kb region that includes the ABL1 gene. There is an additional red probe that covers a 173kb region and spans the whole ASS1 gene.

 

Probe information

The BCR (BCR activator of RhoGEF and GTPase) gene is located at 22q11.23 and the ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) gene is located at 9q34.12. Translocation between these two genes gives rise to the BCR-ABL1 fusion gene, and produces a Philadelphia chromosome; the visible result of this translocation.

The presence of a BCR-ABL1 fusion has important diagnostic and prognostic implications in a number of haematological disorders.

The t(9;22)(q34.12;q11.23) translocation is the hallmark of chronic myeloid leukaemia (CML) and is found in around 90-95% of cases1. The remaining cases have a variant translocation, or have a cryptic rearrangement involving 9q34 and 22q11.23 that cannot be identified by routine cytogenetic analysis1.

The BCR-ABL1 fusion can also be found in 25% of adult acute lymphoblastic leukaemia (ALL) and in 2-4% of childhood ALL1. The presence of a BCR-ABL1 fusion has been shown to confer a poor prognosis in ALL in both adults and children1,2. The detection of the abnormality is therefore of high importance for risk stratification, which will influence treatment and management decisions2. In a small number of ALL cases, the translocation does not result in a cytogenetically visible Philadelphia chromosome. In these cases, FISH is essential for highlighting the fusion gene3.

This rearrangement is also seen in rare cases of acute myeloid leukaemia (AML). Philadelphia-positive AML is characterised by its resistance to conventional standard chemotherapy and poor prognosis4, so accurate and rapid identification of this chromosomal abnormality is vital.

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References

  1. Swerdlow et al., editors, WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, Lyon,France, IARC:2008
  2. Harrison et al., BJH 2010;151:132-142
  3. Van Rhee et al., Br j Haematol 1995;90:225-8
  4. Soupir et al., Am J Clin Pathol 2007;127:642-650

Recommended protocol for CytoCell haematology FISH

Select a protocol step to view:

Sample and slide preparation

Sample and slide preparation Thumbnail
  • Spot the cell sample onto a glass microscope slide. Allow to dry.
  • Immerse the slide in 2x Saline Sodium Citrate (SSC) for 2 minutes at room temperature (RT) without agitation.
  • Dehydrate in an ethanol series (70%, 85% and 100%), each for 2 minutes at RT.
  • Allow to dry.
Haematology FISH protocol Video Image
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Haematology FISH protocol

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