It is important to analyze the mutational status of patients with chronic lymphocytic leukemia (CLL) at an early stage to identify those at high risk of progression, according to a study published in the Journal of Clinical Medicine.
In this study, researchers assessed the link between progression and the genetic characteristics of Binet stage A in 55 patients with CLL with disease detected by whole exome sequencing. Over an average follow-up of 102 months, the results showed that 43% patients experienced disease progression.
A univariate Cox analysis showed that the presence of driver mutations, the accumulation of two or more mutations, the presence of adverse mutations, immunoglobulin heavy chain genes mutation status, and unfavorable single copy number abnormalities (SCNAs) were associated with a higher risk of progression, the researchers noted. The occurrence of an adverse mutation and unfavorable SCNAs were linked with a nine- and five-fold increased risk of CLL progression, respectively.
“Overall, the analysis of the mutational status of patients with CLL at an early stage of the disease may allow the identification of patients with a high risk of progression. The feasibility of an early therapeutic intervention in these particular patients requires further investigation,” the researchers concluded.