1 Hæmatologisk Klinik, Finsencentret, Rigshospitalet, The Capital Region of Denmark2 Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.3 unknown4 Department of Mechanical Engineering, Technical University of Denmark, Kgs. Lyngby, 2800, Denmark.
the case of SF3B1 and subset #2
Recent studies have revealed recurrent mutations of the NOTCH1, SF3B1 and BIRC3 genes in chronic lymphocytic leukemia (CLL), especially among aggressive, chemorefractory cases. Nevertheless, it is currently unknown whether their presence may differ in subsets of patients carrying stereotyped B-cell receptors and also exhibiting distinct prognoses. Here, we analyzed the mutation status of NOTCH1, SF3B1 and BIRC3 in three subsets with particularly poor prognosis, that is, subset #1, #2 and #8, aiming to explore links between genetic aberrations and immune signaling. A remarkably higher frequency of SF3B1 mutations was revealed in subset #2 (44%) versus subset #1 and #8 (4.6% and 0%, respectively; P