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Product summary

  • Technology FISH
  • Application Haematology
  • Areas of interest AML, MDS, MPN
  • Region 5q31.2 / 5p15.31
  • Label    
  • Product No. LPH 024 (10 tests)
    LPH 024-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

  • EGR1, 5q31.2, Red
  • 5p15.31, Green

The EGR1 probe, labelled in red, covers a 186kb region within 5q31.2 that includes the D5S500 marker. The probe mix also contains a control probe, labelled in green for chromosome 5 at 5p15.3 that includes the marker D5S630.

 

Probe information

Deletions of the long arm of chromosome 5 are one of the most common karyotypic abnormalities in myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML) with myelodysplasia related changes1,2.

A subset of patients with del(5q) as a sole cytogenetic abnormality has a consistent set of clinical features, termed the 5q- syndrome1. This clinical entity with <5% blasts has a more favourable prognosis and responds to treatment with lenalidomide. However, patients with del(5q) associated with other cytogenetic abnormalities or with excess blasts have an inferior survival2,3.

Two chromosomal regions have been mapped on chromosome 5q in MDS. One common deleted region, at 5q33, is associated with the 5q- syndrome. Another, more proximal region, located at 5q31, has been linked to a more aggressive form of MDS and AML and is often accompanied by additional cytogenetic abnormalities and a poorer prognosis1,3, 4.

The CytoCell® Del(5q) probe will detect deletions of EGR1 (early growth response 1), a tumour suppressor gene at 5q31. EGR1 has been shown to act through haploinsufficiency to initiate the development of MDS/AML5.

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References

  1. Ebert, Best Pract Res Clin Haematol 2010;23(4):457-461
  2. Swerdlow et al., (eds,) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissue, Lyon, France, 4th edition, IARC,2017
  3. Fang et al., Cell Reports 2014;8(5):1328-1338
  4. Boultwood et al., Blood;116(26):5803-5811
  5. Joslin et al., Blood;110(2):719-726

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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