A selection of haematology probes and an alpha-satellite probe for Chronic Lymphocytic Leukaemia (CLL).
Trisomy 12 is a recurrent abnormality in CLL, seen in 20% of cases1 and often appears as the unique cytogenetic aberration (40-60% of cases with trisomy 12)2. Patients with trisomy 12 are classified as low-risk in the absence of any other genetic lesions3. This product is also available in 5 (LPH 069-S) and 10 (LPH 069) test kit sizes and has been optimised for overnight hybridisation.
Deletions affecting 13q14 are the most frequent structural genetic aberrations in CLL3,4,5. This region is found to be heterozygously deleted in 30-60% and homozygously deleted in 10-20% of CLL patients6. Patients with 13q14 deletions are classified as very low risk, in the absence of any other genetic lesions3.
The TP53 (tumor protein p53) gene at 17p13 is one of most important tumour suppressor genes; it acts as a potent transcription factor with fundamental role in the maintenance of genetic stability. Loss of TP53 is reported in 10% of patients with CLL, and is considered to be the poorest prognostic marker3,7.
The ATM (ATM serine/threonine kinase) gene at 11q22.3 is an important checkpoint gene involved in the management of cell damage and its function is to assess the level of DNA damage in the cell and attempt repair by phosphorylating key substrates involved in the DNA damage response pathway8. Loss of ATM is reported in 18% of patients with CLL, and is considered a poor prognostic marker in CLL9.
Deletions of chromosome 6q are recurrent in CLL. The MYB (MYB protooncogene, transcription factor) gene is essential in haematopoietic cell proliferation and differentiation10,11. It is located in band 6q23.3 and is
provided as a marker for 6q deletion.
I first came across CytoCell FISH probes in a previous lab I worked in and I was struck by the quality of the products. Since this time, I have been recommending and introducing CytoCell probes across all application areas — now they are the primary FISH probes used in our lab. They have an excellent range of products and their ready-to-use reagent format saves considerable time.
Medical Technologist, University of Arizona Health Network, USA