D13S319 Deletion LPH 042 - Detail

Chromosomal abnormalities on chromosome 13q occur in 16 - 40% of multiple myeloma cases¹ and are associated with poor prognosis.

A case study showed that in 90% of patients, the 13q14 region was affected and 68% also involved the 13q21 region. The critical region in all but 8 patients was located to 13q14². Deletions affecting the 13q14 band are also the most frequent genetic abnormalities of B-cell Chronic Lymphocytic Leukaemia (B-CLL)³. This region is found deleted heterozygously in 30-60% and homozygously in 10-20% of CLL patients⁴. Recently though, the survival rate has been shown to be similar⁵. Two non-coding RNA genes, DLEU1 and DLEU2, and the genetic marker D13S319, span the pathogenic critical region 13q14.3⁶. DLEU1 is considered to be the most likely CLL-associated candidate tumour suppressor gene within the 13q14 region⁷.

Subsequently the locus D13S319, located between the RB1 gene and D13S25 and within the DLEU1 locus, was found to be deleted in 45% of CLL cases⁸. It has also been postulated that a gene telomeric to the D13S319 region encompassing D13S25 and 206XF12 may be important in cases where there are hemizygous deletions, and that this gene is a putative tumour suppressor gene⁹. The Cytocell D13S319 deletion probe covers the marker and the centromeric end of the DLEU1 locus.

References:

1. Bullrich F et al., Cancer Res 2001;61:6640-8
2. Shaughnessy J et al., Blood 2000;96:1505-11
3. Juliusson G et al., N Eng J Med 1990;323:720-4
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. Liu Y et al., Oncogene 1997;15:2463-73
7. Wolf S et al., Hum Mol Genet 2001;10:1275-85
8. Liu Y et al., Blood 1995;86:1911-5
9. Bullrich F et al., Blood 1996;88(8):3109-15