Common alterations in both initial MDS and relapse AML were a single translocation of t(16;21)(p11.2;q22.2), two copy number variants, and 14 single nucleotide variants (SNVs) in cording sites (CDS), comprising 10 non-synonymous SNVs, including MICAL3, SH3BP4, MKI67, GABRR3, ZNF674, CCT8L2, PUS1, PLXNB3, LRIG2, and FRMD4A; 1,235 SNVs in non-CDS; and 105 insertion/deletion (indel) including three indels in CDS, including KRAS c.504delG (p.L168fs) (Additional file 1; Table S3). The gene discussed is PUS1; the disease is acute myeloid leukemia.