Fig. 2

Molecular genetic and FISH analyses for identification of the GTF2I–PDGFRB fusion gene. a The 76 bp sequence obtained from the raw data of RNA sequencing using the command “grep”. The search term “TCCCTGTCCGAGTGCTGG” is underlined. b Partial sequence chromatogram of the PCR amplified cDNA fragment showing the fusion (arrow) of GTF2I and PDGFRB. c Partial sequence chromatogram of the PCR amplified genomic DNA fragment showing the fusion (arrow) of GTF2I and PDGFRB. The identification of the GTF2I gene as the PDGFRB-fusion partner was possible only after FISH experiments using appropriate commercial BAC probes for PDGFRB and GTF2I. d Ideogram of chromosome 5 showing the mapping position of the PDGFRB gene (vertical red line). e Diagram showing the FISH probe RP11-21I20 for PDGFRB. Additional genes in this region are also shown. f Ideogram of chromosome 7 showing the mapping position of the GTF2I gene (vertical green line). g Diagram showing the FISH probe RP11-137E8 for GTF2I. Additional genes in this region are also shown. h FISH on interphase nuclei with the PDGFRB (red signal) and GTF2I (green signal) probes showing a red signal, a green signal and one yellow-fusion signal (arrow)