Novel SF3B1 in-frame deletions result in aberrant RNA splicing in CLL patients

Blood Adv. 2017 Jun 14;1(15):995-1000. doi: 10.1182/bloodadvances.2017007062. eCollection 2017 Jun 27.


We identify and characterize novel SF3B1 in-frame deletions in chronic lymphocytic leukemia.These deletions are functionally similar to well-known SF3B1 hotspot mutations and are sensitive to splicing modulation.