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haematology, ancillary items
Catalogue Numbers
LPH 067 (2x10 tests)
LPH 067-S (2x5 tests)

The Cytocell CLL PROFILER Kit is intended to detect deletions of P53, ATM and D13S319, and gains of the chromosome 12 centromere sequence in peripheral blood or bone marrow samples from patients with B-cell Chronic Lymphocytic Leukaemia (B-CLL).

P53(TP53)/ATM Probe Combination

P53 is a tumour suppressor gene that mediates the apoptosis of damaged cells. It has been found that approximately 17% of B-CLL patients have deletions of the P53 gene1. Patients exhibiting this genotype are associated with a poor prognosis2 as they harbour a proliferating population of damaged cells. The ATM gene is an important regulatory candidate in cell damage management. When it is deleted damaged cells are neither repaired nor apoptosed and are allowed to proliferate. The detection of the ATM deletion in CLL is important as it indicates poor prognosis and can define a patient's therapy3. Deletions of ATM and P53 are the most serious rearrangements involved in CLL and detection of deletions of these genes provides very important information as to the therapy choices for such patients especially since deletions of P53 and ATM provide a poor prognosis4,5.

D13S319/13qter/12cen Deletion/Enumeration

Deletions affecting the 13q14 band are the most frequent genetic abnormalities of B-cell Chronic Lymphocytic Leukaemia (B-CLL)6. This region is found deleted heterozygously in 30-60% and homozygously in 10-20% of CLL patients7. Recently though, the survival rate has been shown to be similar8. Two non-coding RNA genes, DLEU1 and DLEU2, and the genetic marker D13S319, span the pathogenic critical region 13q14.39. DLEU1 is considered to be the most likely CLL-associated candidate tumour suppressor gene within the 13q14 region10. Trisomy of chromosome 12 is the most common chromosome abnormality in B-CLL11,12,13,14 and is now thought to have strong prognostic significance15. The molecular consequences of the additional chromosome are not clear, though it has been shown to be more common in the 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 1211.


1. Döhner et al., J Mol Med 1999;77:266-81

2. Döhner et al., Blood 1995; 85(6):1580-1589

3. Tsimberidou et al., Cancer 2009; 115:373–380

4. Guarini et al., Haematol. 2012;97(1):47-55

5. Stilgenbauer and Zenz ASH Education Book 2010 1:481-488

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

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

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

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

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

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

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

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

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

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

Area of Interest*


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.