Mutational Burden in Patients with Treatment-Naïve CLL

Mariia Mikhaleva, MD, a research fellow at the Dana-Farber Cancer Institute, described an analysis of the mutational burden in patients with treatment-naïve chronic lymphocytic leukemia (CLL) presented at the 65th American Society of Hematology Annual Meeting & Exposition.

The goal of the study was to identify patterns of co-occurrence and mutual exclusivity among mutations in CLL and their impact on time to first treatment, according to Dr. Mikhaleva.

Dr. Mikhaleva and colleagues discovered 1,798 mutations in 90% of patients, while 10% of patients had no mutations. The most mutated genes in the whole cohort were ATM (18.1%), NOTCH1 (17.7%), TP53 (13.2%), SF3B1 (12.3%), TET2 (10.2%), and DNMT3A (10.1%).

“This study identifies a shorter time to first treatment in patients with high mutational burden,” Dr. Mikhaleva noted. “The presence of two or more mutations are associated with high-risk cell features. In this cohort, we unfortunately did not see the co-occurrence of specific mutations.”