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D13S319 Plus Deletion

Applications
haematology
Catalogue Numbers
LPH 068-S (5 tests)
LPH 068 (10 tests)

Probe Specification

  • D13S319, 13q14.2-14.3, Red
  • 13qter, 13q34, Green

The D13S319 probe, labelled in red, covers a 156kb region including the entire DLEU1 and most of the DLEU2 genes and the D13S319, D13S272 and RH47934 markers. The 13qter subtelomere specific probe, labelled in green, allows identification of chromosome 13 and acts as a control probe.

Probe Information

Rearrangements leading to the loss of all or part of the long arm of chromosome 13 are seen frequently in a wide range of haematological disorders.

Chromosome 13q aberrations occur in 16-40% of multiple myeloma cases (MM), most of them being complete monosomy 13 (85%), while the remaining 15% constitute deletion of 13q1.2,3. A case study of multiple myeloma patients narrowed down the critical deleted region to 13q144. Historically, deletions of 13q have been associated with poor prognosis in MM but now it is believed that its prognostic relevance may be related to its association with other concurrent genetic lesions3,5.

Deletions affecting 13q14 are also the most frequent structural genetic aberrations in chronic lymphocytic leukaemia (CLL)6,7,8. This region is found to be heterozygously deleted in 30-60% and homozygously deleted in 10-20% of CLL patients9. The survival rate has been shown to be similar for the two groups10. Patients with 13q14 deletions are classified as very low risk, in the absence of any other genetic lesions11.

Two non-coding RNA genes, DLEU1 (deleted in lymphocytic leukemia 1) and DLEU2 (deleted in lymphocytic leukemia 2), plus the genetic marker D13S319, span the pathogenic critical region of 13q1412. DLEU1 is considered to be the most likely CLL-associated candidate tumour suppressor gene within the 13q14 region13. Subsequently, D13S319, located between the RB1 gene and D13S25 and within the DLEU1 locus, was found to be deleted in 44% of CLL cases14. It has also been postulated that a gene telomeric to the D13S319 region, encompassing D13S25, may be important in cases with hemizygous deletions and that this gene is a putative tumour suppressor gene15.

The quality of the products we have received from Cytocell have been excellent. The FISH probes they provide to us give intense, strong signals and are a pleasure to count. What has really stood out however has been the level of support and assistance provided by Cytocell’s application specialists. The team worked very closely alongside our own during the adoption of this product and spent many hours with us perfecting the technique, going above and beyond what I would expect during the transition period. Source BioScience absolutely demand high quality products and service to be able to deliver our results with confidence, and that is what we have received from Cytocell. Neil Ryan, Laboratory Operations Manager at Source BioScience

References

  1. Bullrich F et al., Cancer Res 2001;61:6640-8
  2. Zojer et al., Blood 2000;95(6 ):1925-1930
  3. Sawyer, Cancer Genetics 2011;204:3-12
  4. Shaughnessy J et al., Blood 2000;96:1505-11
  5. Fonseca et al., Leukemia 2009;23:2210-2221
  6. Juliusson G et al., N Eng J Med 1990;323:720-4
  7. Puiggros et al., Biomed Res Int 2014;1-13
  8. Kasar et al., Nature Communications 2015;6:1-12
  9. Hammarsund M et al., FEBS Letters 2004;556:75-80
  10. Van Dyke DL et al., Br J Haematology 2009;148:544-50
  11. Rossi et al., Blood 2013;121(8):1403-1412
  12. Liu Y et al., Oncogene 1997;15:2463-73
  13. Wolf S et al., Hum Mol Genet 2001;10:1275-85
  14. Liu Y et al., Blood 1995;86:1911-5
  15. Bullrich F et al., Blood 1996;88(8):3109-15
  16. Arsham, MS., Barch, MJ. and Lawce HJ. (eds.) (2017) The AGT Cytogenetics Laboratory Manual. New Jersey: John Wiley & Sons Inc.
  17. 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.
  18. 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.
Area of Interest*
CLL, MM

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.