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D13S319/13qter/12cen Deletion/Enumeration

Applications
haematology
Catalogue Numbers
LPH 066-S (5 tests)
LPH 066 (10 tests)

Probe Specification

  • D13S319, 13q14.2 – q14.3, Red
  • 13qter, 13q34, Blue
  • D12Z3, 12p11.1-q11.1, Green

The Chromosome 12 Alpha Satellite Probe is labelled in green and recognises the centromeric repeat sequence D12Z3. The D13S319 probe consists of a 156kb probe, labelled in red that covers the centromeric end of DLEU1 and incorporates most of the DELU2 gene, it also covers the D13S319 and D13S272 markers. The 13qter subtelomere specific probe, labelled in blue, allows identification of chromosome 13 and acts as a control probe.

Probe Information

Deletions affecting band 13q14 and trisomy of chromosome 12 are common events in chronic lymphocytic leukaemia (CLL).

Deletions affecting 13q14 are also the most frequent structural genetic aberrations in chronic lymphocytic leukaemia (CLL)1,2,3. This region is found to be heterozygously deleted in 30-60% and homozygously deleted in 10-20% of CLL patients4. The survival rate has been shown to be similar for the two groups5. Patients with 13q14 deletions are classified as very low risk, in the absence of any other genetic lesions6.

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 13q147. DLEU1 is considered to be the most likely CLL-associated candidate tumour suppressor gene within the 13q14 region8.

Trisomy 12 is a recurrent abnormality in CLL, seen in 20% of the cases9 and often appears as the unique cytogenetic aberration (40-60% of cases with trisomy 12)2. Patients with trisomy 12 are classified as low-risk in the absence of any other genetic lesions6.

In our hands, Cytocell FISH probes, have proven to be of the highest quality with bright, easy to interpret signals, thus providing confidence in our results. Cytocell’s customer support is outstanding, as their staff are extremely knowledgeable and truly care about their customers and their customers’ needs. Jennie Thurston, Director of Cytogenetics at Carolinas Pathology Group

References

  1. Juliusson G et al., N Eng J Med 1990;323:720-4
  2. Puiggros et al., Biomed Res Int 2014;1-13
  3. Kasar et al., Nature Communications 2015;6:1-12
  4. Hammarsund M et al., FEBS Letters 2004;556:75-80
  5. Van Dyke DL et al., Br J Haematology 2009;148:544-50
  6. Rossi et al., Blood 2013;121(8):1403-1412
  7. Liu Y et al., Oncogene 1997;15:2463-73
  8. Wolf S et al., Hum Mol Genet 2001;10:1275-85
  9. Swerdlow et al., (eds,) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissue, Lyon, France, 4th edition, IARC,2017
  10. Arsham, MS., Barch, MJ. and Lawce HJ. (eds.) (2017) The AGT Cytogenetics Laboratory Manual. New Jersey: John Wiley & Sons Inc.
  11. 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.
  12. 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

D13S319 13qter 12cen Deletion Enumeration magnified
Area of Interest*
CLL

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.