D13S25 Deletion LPH043 - 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 Bcell 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 gene⁶. The Cytocell D13S319 deletion probe covers the marker and the centromeric end of the DLEU1 locus. The Cytocell D13S25 deletion probe covers the marker, the telomeric end of DLEU1 and the centromeric end of DLEU7.

Reference:/Bibliographie/Literatur/Bibliografia

1. Bullrich F et al (2001) Cancer Research 61: 6640-6648
2. Shaughnessy J et al (2000) Blood 96: 1505-1511
3. Juliussson G et al (1990) N. Eng. J. Med. 323: 720-724
4. Hammarsund M et al (2004) FEBS Letters 556: 75-80
5. Van Dyke DL et al (2009) Br. J. Haematology Epub Ahead of print
6. Liu Y et al (1997) Oncogene 15:2463-2473
7. Wolf S et al (2001) Hum. Mol. Genet. 10: 1275-1285
8. Liu Y et al (1995) Blood 86:1911-1915
9. Bullrich F et al (1996) Blood 88 (8) 3109-3115