A Novel Mechanism in Chronic Lymphocytic Leukemia

Mutations in SF3B1 lead to altered RNA splicing and contribute to CLL pathogenesis.

Chronic lymphocytic leukemia (CLL) is biologically and clinically heterogeneous, with some patients enjoying many years of treatment-free survival while others experience relentless disease progression. To better understand the molecular underpinnings of this heterogeneity, investigators performed massively parallel sequencing of paired tumor and germline DNA from 91 CLL patients. Acquired somatic mutations were identified by comparing whole genome and whole exome sequences from the tumor cell and normal DNA.

Recurring mutations were confirmed in four genes previously known to be associated with CLL: TP53, ATM, MYD88, and NOTCH1. Five additional genes with recurring mutations were also identified. The most common of these (found in 15% of ca…

Reviewing Author

Michael E. Williams, MD

Disclosures

Consultant/Advisory BoardAbbVie; AstraZeneca; Beigene; Janssen; Pharmacyclics

Grant/Research SupportJanssen

Editorial BoardsAmerican Board of Internal Medicine (ABIM) Hematology Longitudinal Knowledge Approval Committee

Michael E. Williams, MD

Disclosures

Consultant/Advisory BoardAbbVie; AstraZeneca; Beigene; Janssen; Pharmacyclics

Grant/Research SupportJanssen

Editorial BoardsAmerican Board of Internal Medicine (ABIM) Hematology Longitudinal Knowledge Approval Committee