D13S319 Plus Deletion
- Applications
- haematology
- Catalogue Numbers
- LPH 068 (10 tests)
LPH 068-S (5 tests)
Chromosome 13q abnormalities occur in 16-40% of multiple myeloma cases and are associated with poor prognosis1,2.
A case study has shown that in 90% of patients, the 13q14 region was affected and 68% also showed involvement of the 13q21 region – the critical region in all but 8 patients was narrowed down to 13q143. Deletions affecting 13q14 are also the most frequent structural genetic abnormalities in B-cell Chronic Lymphocytic Leukaemia (B-CLL)4. This region is found to be heterozygously deleted in 30-60% and homozygously deleted in 10-20% of CLL patients5. Recently though, the survival rate has been shown to be similar for the two groups6.
Two non-coding RNA genes, DLEU1 and DLEU2, and 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. Subsequently, D13S319, located between the RB1 gene and D13S25 and within the DLEU1 locus, was found to be deleted in 44% of CLL cases9. 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 gene10.
References
1. Bullrich F et al., Cancer Res 2001;61:6640-8
2. Zojer et al., Blood 2000;95(6):1925-1930
3. Shaughnessy J et al., Blood 2000;96:1505-11
4. Juliusson G et al., N Eng J Med 1990;323:720-4
5. Hammarsund M et al., FEBS Letters 2004;556:75-80
6. Van Dyke DL et al., Br J Haematology 2009;148:544-50
7. Liu Y et al., Oncogene 1997;15:2463-73
8. Wolf S et al., Hum Mol Genet 2001;10:1275-85
9. Liu Y et al., Blood 1995;86:1911-5
10. Bullrich F et al., Blood 1996;88(8):3109-15
Microscope Images
- 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.