Onkológia 4/2018
Prognostické faktory pri chronickej lymfocytovej leukémii
Prognostic factors of chronic lymphocytic leukemia
Chronic lymphocytic leukemia (CLL) is the most common leukemia in adults in Europe and North America, and comprise about 30% of all leukemias. Significant progress has been made in the treatment of CLL patients over the last twenty years, however, due to significant biological and clinical variability CLL remains incurable. Antigenic stimulation, signaling via B-cell receptor (BCR), disruption of apoptotic pathways and influence of microenvironment have an important role in the pathogenesis of CLL. We divide prognostic factors into classical and new. While classical prognostic factors include clinical stage, gender, age, performance status and lymphocyte doubling time, the new prognostic factors include both molecular and serum prognostic factors. The most important molecular prognostic and predictive factors are the mutation status of immunoglobulin heavy chain genes (IGHV), cytogenetic aberrations and TP53 gene mutation. Recent implementation of the next generation sequencing technologies allowed the detection of recurrent genetic aberrations of genes involved in variety of biological pathways such as NOTCH1, SF3B1, BIRC3, all of which are important in CLL pathogenesis. Clinical relevance of these aberrations is curently under investigation. The identification of the molecular markers at the time of diagnosis and relapse is crucial during the treatment decisions in CLL patient.
Keywords: chronic lymphocytic leukemia, prognostic factors, immunoglobulin heavy chain gene mutation, cytogenetic aberrations, TP53 gene mutation
