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P16 (CDKN2A) Deletion

Applications
haematology
Catalogue Numbers
LPH 009 (10 tests)
LPH 009-S (5 tests)

Deletions of chromosome 9p21 are implicated in a wide variety of tumours including approximately 10% of paediatric ALL patients1, though the incidence is higher in T-ALL2.

The region has been the subject of much study but deletion of the potential tumour suppressor gene P16 (Cyclin-Dependent Kinase Inhibitor 2A (CDKN2A)) was found to take place in 90% of newly diagnosed cases of paediatric ALL showing cytogenetic deletions of 9p21 by FISH3. This study showed that deletion of P16 only (rather than both P16 (CDKN2A) and P15 (CDKN2B)) was the critical step as one case was found to be deleted for P16 but P15 was present. The deletion is usually homozygous (81% compared to 9% hemizygous) in cases of T-ALL whilst homozygous and hemizygous deletions are roughly equal in B-ALL (23% vs. 20% for homozygous and hemizygous respectively).

The gene product inhibits the Cyclin Dependent Kinases CDK4 and CDK6, which are important in controlling cell cycle progression from G1 to S phase4. Disruptions of this process are therefore likely to result in the proliferation of mutated cells.

References

1. Heerema et al., Blood 1999; 94:1537-1544

2. Secker-Walker et al., Br J Haematol 1997;96(3):601-10

3. Okuda et al., Blood 1995;85(9):2321-30

4. Fry et al., Mol Cancer Ther. 2004 Nov;3(11):1427-38

Microscope Images

P16 (CDKN2A) Deletion magnified
Area of Interest*
ALL, Lymphoma

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.