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D13S319/13qter/12cen Deletion/Enumeration

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

Deletions affecting band 13q14 and trisomy of chromosome 12 are common events in B-cell Chronic Lymphocytic Leukaemia (B-CLL).

Deletions affecting the 13q14 band are the most frequent genetic abnormalities of B-CLL1. This region is found to be deleted heterozygously in 30-60%, and homozygously in 10-20%, of CLL patients2. Recently, the survival rate has been shown to be similar3. Two non-coding RNA genes, DLEU1 and DLEU2, and the genetic marker D13S319, span the pathogenic critical region 13q14.34. DLEU1 is considered to be the most likely CLL-associated candidate tumour suppressor gene within the 13q14 region5.

Trisomy of chromosome 12 is the most common chromosome abnormality in B-CLL6,7,8,9 and is now thought to have strong prognostic significance10. The molecular consequences of the additional chromosome are not clear, though it has been shown to be more common in non-dividing cells rather than mitoses, which are frequently found to be cytogenetically normal. This was deduced from FISH studies using centromeric probes for chromosome 126.

References

1. Juliusson G et al., N Eng J Med 1990;323:720-4

2. Hammarsund M et al., FEBS Letters 2004;556:75-80

3. Van Dyke DL et al., Br J Haematology 2009;148:544-50

4. Liu Y et al., Oncogene 1997;15:2463-73

5. Wolf S et al., Hum Mol Genet 2001;10:1275-85

6. Anastasi J et al., Blood 1992;79(7):1796-801

7. Aoun P et al., Leuk Lymphoma 2004;45(8):1595-603

8. Bienz N et al., Br J Haematol 1993;85(4):819-22

9. Escudier SM et al., Blood 1993;81(10):2702-7

10. Chiorazzi. ASH Education Book; 2012: 2012(1):76-87

Microscope Images

D13S319 13qter 12cen Deletion Enumeration magnified
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.