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Del(5q) Deletion

Applications
haematology
Catalogue Numbers
LPH 024-S (5 tests)
LPH 024 (10 tests)

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.

I am grateful for the excellent products I receive from Cytocell at a reasonable price, but more importantly the superb customer support.  The speed in which I receive answers or suggestions makes my life as a director much easier and allows me to focus on patient care.  The quality and consistency of Cytocell’s probes means I can trust the results, and my clients get their results in a timely manner. Dr. Theresa C. Brown, Director, Cytogenetics Laboratory

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
  6. Arsham, MS., Barch, MJ. and Lawce HJ. (eds.) (2017) The AGT Cytogenetics Laboratory Manual. New Jersey: John Wiley & Sons Inc.
  7. Mascarello JT, Hirsch B, Kearney HM, et al. Section E9 of the American College of Medical Genetics technical standards and guidelines: fluorescence in situ hybridization. Genet Med. 2011;13(7):667-675.
  8. Wiktor AE, Dyke DLV, Stupca PJ, Ketterling RP, Thorland EC, Shearer BM, Fink SR, Stockero KJ, Majorowicz JR, Dewald GW. Preclinical validation of fluorescence in situ hybridization assays for clinical practice. Genetics in Medicine. 2006;8(1):16–23.

Microscope Images

Del 5q Deletion magnified
Area of Interest*
AML, MDS, MPN

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.