PMC4189616_01
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.
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Fig1
Karyotypic analysis revealed 46,XY,t(7;21)(p?15;q22) /46,idem,del(5q)(q22q35) (Figure 1A,B).