SETD2 mutations occurred in 2.6% of B-ALL cases and approximately 70% of the SETD2 lesions were likely to be loss-of-function mutations, including the nonsense mutation (C2525X), frameshift mutations (S165Lfs*12, A158Dfs*13, S1572Xfs*1) and splice site mutations (c.4715(exon5), c.4715 + 1(IVS5) ins TTTTATGAT) (Fig. 2c). This evidence concerns the gene SETD2 and acute lymphoblastic leukemia.