The role of cytogenetic and molecular testing in the diagnostics and prognostication of chronic B-cell lymphocytic leukemia

Abstract

B-cell chronic lymphocytic leukemia (B-CLL) is the most frequently diagnosed leukemia in an adult population in Europe and North America. Disease pathogenesis is not well defined. The majority patients are following the “wait and watch” strategy since early treatment does not affect survival. The therapeutic decision is based on the clinical stage of disease, presence of comorbid conditions clinical disease activity as well as 11q deletion and 17p deletion status and/or mutation in the TP53 gene. Moreover, expression of CD38, ZAP70, and mutational status of IGVH gene are well-known prognostic factors. The following chromosomal abnormalities are the most frequently diagnosed in CLL: 13q14 (in 50 – 60% CLL), 11q22-23 (in 12 – 18% CLL), 17p13 (in 10% CLL) deletion, 6q (in about 6% CLL) and trisomy of chromosome 12 (in 10 – 20% CLL). However, the above-mentioned factors are not able to define all, high-risk patients. Therefore, there is an urgent need to search for new prognostic and predictive factors, which might be helpful in better classification and selection for personalized therapy for B-cell CLL patients. This prompted us to review both the well-known and new prognostic/predictive factors.