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

Author:

Agrawal Anant A.1,Seiler Michael1,Brinton Lindsey T.2,Mantel Rose2,Lapalombella Rosa2,Woyach Jennifer A.2,Johnson Amy J.2,Zhu Ping1,Warmuth Markus1,Yu Lihua1,Byrd John C.2,Smith Peter G.1,Blachly James S.2,Buonamici Silvia1

Affiliation:

1. H3 Biomedicine, Inc., Cambridge, MA; and

2. Ohio State University Comprehensive Cancer Center, Columbus, OH

Abstract

Key Points 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.

Publisher

American Society of Hematology

Subject

Hematology

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