Fig 1.
G-banding analysis of bone marrow from a patient with CLL and secondary MDS.
The initial analysis showed a del(21)(q22). Reassessment of the G-banding preparations after taking into account additional molecular-cytogenetic data showed a t(5;21)(p15;q22). Arrows indicate breakpoints.
Fig 2.
FISH analysis of bone marrow from a patient with CLL and secondary MDS using a commercial RUNX1 break apart probe.
(A) Diagram illustrating the commercial RUNX1 probe. (B) Metaphase spread showing splitting of RUNX1. Most of the green signal has moved to distal 5p. (C) Ideograms showing the der(5)t(5;21)(p15;q22) and der(21)t(5;21)(p15;q22) together with their normal chromosome homologs.
Table 1.
Fusion transcripts detected using FusionCatcher.
Fig 3.
Molecular genetic analysis of bone marrow from a patient with CLL and secondary MDS.
(A) Gel electrophoresis showing the amplified RUNX1-PDCD6 cDNA fragments. M, GeneRuler 1 Kb DNA ladder (Thermo Scientific). Lane 1, amplification using the primer set RUNX1-809N-F1/PDCD6-354R1. Lane 2, amplification with the primer set RUNX1-852N-F1/PDCD6-373R1. (B) Partial sequence chromatogram of the cDNA fragment showing the fusion (arrow) of RUNX1 and PDCD6. (C) The putative RUNX1-PDCD6 fusion protein. The Runt homology domain from RUNX1 is in green. The region with four EF-hand motives from PDCD6 is in yellow. The RUNX1-PDCD6 junction is in box.
Fig 4.
FISH analysis of bone marrow from a patient with CLL and secondary MDS using home-made break apart/double fusion PDCD6 and RUNX1 probes.
(A) Ideogram of chromosome 5 showing the mapping position of the PDCD6 gene (vertical red line). (B) Diagram showing the FISH probe for PDCD6. Additional genes in this region are also shown. (C) Ideogram of chromosome 21 showing the mapping position of the RUNX1 gene (green box). (D) Diagram showing the FISH probe for RUNX1. Additional genes in this region are also shown. (E) FISH on metaphase plate with the PDCD6 (red signal) and RUNX1 (green signal) probes showing a red signal on chromosome 5, a green signal on chromosome 21, and two yellow fusion signals, one on der(5) and one on der(21). (F) FISH on interphase nuclei showing a red PDCD6 signal, a green RUNX1 signal, and two yellow fusion signals.