Prognostic signature and clonality pattern of recurrently mutated genes in inactive chronic lymphocytic leukemia.

摘要: An increasing numbers of patients are being diagnosed with asymptomatic early-stage chronic lymphocytic leukemia (CLL), no treatment indication at baseline. We applied a high-throughput deep-targeted analysis, especially designed for covering widely TP53 and ATM genes, in 180 inactive disease diagnosis, to test the independent prognostic value CLL somatic recurrent mutations. found that 40/180 harbored least one acquired variant (n=17, 9.4%), NOTCH1 (n=14, 7.7%), 7.7%) SF3B1 (n=10, 5.5%) as most prevalent mutated genes. Harboring ‘sub-Sanger' mutation granted an 3.5-fold increase probability needing treatment. Those double-hit lesion (mutation+11q deletion) had shorter median time first (17 months). genomic variable: mutations, them under sensitivity conventional techniques; cell phenotypic factor: CD38-positive expression; classical marker β2-microglobulin, remained unique predictors outcome. The determination status, particularly this set frequently lacking high-risk chromosomal aberrations, emerges key step, not only prediction modeling, but also exploring mutation-specific therapeutic approaches minimal residual monitoring.