Four unique and previously unidentified gene fusions via karyotyping data at diagnosis were identified in primary AML samples, KMT2A-MLLT1, KMT2A-MLLT3, NUP98-NSD1 and the reciprocal NSD1-NUP98, and 5 exon duplication/deletions were identified in CEBPA and IRF4 (Table 2 and Additional file 7: Table S3). Here, NUP98 is linked to acute myeloid leukemia.