Fig. 4

A cryptic KMT2A-rearranged AML. The figure shows an AML with a KMT2A-MLLT4 gene fusion which is likely caused by an unbalanced translocation between chromosome 6 and 11. a. FISH-analysis using the KMT2A BA-probe (KMT2A 5′ = green FISH-probe, KMT2A 3′ = red FISH-probe) could detect that a suspected KMT2A-rearrangement was present since deletion of the 3′-part (red) of the KMT2A-gene was seen. However, because of the lack of the reciprocal fusion, no fusion partner could be identified. b. The translocation was not visible with G-banding or FISH-analysis using KMT2A/MLLT4 dual fusion-probe (KMT2A = red FISH-probe, MLLT4 = green FISH-probe). c. Archer anchored multiplex PCR and MiSeq sequencing revealed a KMT2A-MLLT4 exon 8-exon 2 fusion. The figure is a schematic overview of the sequences, a total of 924 reads spanning the breakpoint was scored. d. RT-PCR verified the KMT2A-MLLT4 gene fusion. P1 and P2 = patient 1 and 2 carrying KMT2A-MLLT4 e8-e2 gene fusions, P3 = patient 3 with a KMT2A-AFF1 gene fusion (negative control), NTC = non template control. For the original full length gel image see Supplementary Fig. 1