From Human Genetic to Mouse Model: SF3B1 Mutation and its Impact on Chronic Lymphocytic Leukemia

Large-scale sequencing studies using primary samples have identified SF3B1 as among the most frequently mutated genes in chronic lymphocytic leukemia (CLL). These mutations localize to a restricted gene region, with more than 50% at the K700E site. They co-occur at high frequency with ATM mutations and deletion of chromosome 11, whose minimally deleted region contains ATM. While SF3B1 mutations have been associated with adverse clinical outcome in CLL, mechanistic understanding of its role in the oncogenic phenotype is lacking.

Source: Clinical Lymphoma, Myeloma and Leukemia - August 26, 2016 Category: Hematology Authors: Lili Wang, Angela Brooks, Rutendo Gambe, Jean Fan, Jing Sun, Sarah Hergert, Youzhong Wan, Donna Neuberg, Peter Kharchenko, Matthew Meyerson, Mark Fleming, Benjamin Ebert, Catherine Wu Source Type: research