Figure 1From: 5‘RUNX1-3’USP42 chimeric gene in acute myeloid leukemia can occur through an insertion mechanism rather than translocation and may be mediated by genomic segmental duplications Karyotypic, FISH and molecular analyses in our AML patient with the ins(21;7) rearrangement. (A) GTG-banded karyotype showing the rearrangement between 7 and 21 chromosomes and del(5q) (indicated by arrows) (B) A partial G-banded karyogram comprising both der(7) and der(21) chromosomes (C) FISH analysis with WCP probes specific for chromosomes 7 and 21 showing chromosome 7 insertion on chromosome 21; (D) FISH experiment with the overlapping clones RP11-1006 L1 and RP11-1112A12 and BAC clone RP11-805P12 showed a fusion signal on der(21) identifying ins(21;7) breakpoints; (E) Partial sequence chromatogram showing that RUNX1 exon 7 is fused to USP42 exon 3 in the 5‘RUNX1-3’USP42 transcript. (F) Graphic representation of USP42 gene relative expression using primers specific for wild-type (red), and wild-type and rearranged USP42 gene (blue) in the AML patient with ins(21;7), in the NK-AML pool, and in normal bone marrow (NBM) samples.Back to article page