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Product summary

  • Technology FISH
  • Application Haematology
  • Areas of interest MPN
  • Region 5q32
  • Label    
  • Product No. LPH 031 (10 tests)
    LPH 031-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

  • PDGFRB, 5q32, Red
  • PDGFRB, 5q32, Green

The PDGFRB product consists of a 107kb probe, labelled in red, located centromeric to the PDGFRB gene, including the D5S2618 and D5S2619 markers and a green probe, covering a 154kb region telomeric to the PDGFRB gene, including the D5S2015 marker.

 

Probe information

Rearrangements involving the PDGFRB (platelet derived growth factor receptor beta) gene at 5q32 are reported in both myeloid and lymphoid neoplasms.

In the 2008 World Health Organization (WHO) classification of myeloid neoplasms and acute leukaemia, a new subgroup of myeloid neoplasms was introduced: Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of PDGFRA, PDGFRB or FGFR1. These neoplasms constitute three specific disease groups, with some shared features1.

The myeloid neoplasms with PDGFRB rearrangements are characterised by constitutive activation of the PDGFRB gene product1. The activation is most commonly caused by a t(5;12)(q31-q33;p13) translocation which results in an ETV6-PDGFRB fusion gene. Patients with this fusion have been shown to be responsive to tyrosine kinase inhibitors (TKIs)2, which specifically inhibits the kinase activity of PDGFRB.

In B-ALL, gene expression profiling has identified an unusual genetic subgroup, the BCR-ABL1-like or Philadelphia chromosome-like (Ph-like) ALL, which represents about 15% of paediatric ALL cases and has an unfavourable outcome3,4. Patients with this expression signature are characterised by genetic alterations, such as rearrangements, mutations and deletions of a range of kinase and cytokine receptors, including PDGFRB rearrangements. Known PDGFRB partners are EBF1 at 5q33, SSBP2 at 5q14, TNIP1 at 5q33 and ZEB2 at 2q22. It is crucial to detect such rearrangements, as patients could benefit from treatment with tyrosine kinase inhibitors (TKIs)3,4,5.

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References

  1. Swerdlow et al., editors, WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, Lyon, France, IARC:2008
  2. Apperley JF et al., N Engl J Med 2002;347:481
  3. Harrison, Hematology Am Soc Hematol Educ Program 2013;2013:118-125
  4. Mullighan, J Clin Invest 2012;122(10):3407-3415
  5. Roberts et al., N Eng J Med 2014;371(11):1005-1015

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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