Chronic Lymphocytic Leukemia



CHRONIC LYMPHOCYTIC LEUKEMIA (CLL) is the most common hematological neoplasm in Western countries and results in the progressive accumulation of CD5(+) CD23(+) B lymphocytes that appear morphologically mature but are functionally incompetent in bone marrow, blood, spleen and lymph nodes of the affected person. Chromosomal translocations are rare events in B-CLL. Copy number changes of certain chromosomal regions are however frequent. Some of these have been found to be highly prognostic markers of this disease.


SALSA® MLPA® probemixes P037 and P038 contain probes for several genomic regions that are recurrently imbalanced in B cell CLL. The P040 probemix contains a selection of targetedgenes and regions from P037 and P038.


The P040 CLL MLPA probemix can be used to determine the loss of TP53 on 17p13 (6 probes), the RB1 / DLEU / MIRN15A-16 region on 13q14 (10 probes), the ATM gene on 11q22 (7 probes) as well the presence of trisomy 12 (11 probes) in DNA samples obtained from chronic lymphocytic leukemia. In addition, 13 reference probes on various other chromosomes are present. For each region to be analysed, several probes are present. This is necessary for correct analysis of samples containing lower (30-60 %) percentages of tumour cells. Please, note that diploid and tetraploid cells cannot be distinguished by MLPA. Only changes in relative copy number of the sequences detected by the probes will result in a changed peak MLPA pattern.