case_images: PMC8629764_01
case_images: Karyotype. 46,XY,t(5;7;7) (q33.2; q32; q11.2). Arrows indicate the direction of the transfer of chromosomal material between the derivative chromosomes 5, 7 and 7.
case_images: CMAR-13-8841-g0001.jpg
case_images: PMC8629764_01_CMAR-13-8841-g0001.jpg
case_images: f0001
case_images: Cytogenetic analysis showed a 3-way translocation involving chromosome 5 and both chromosomes 7 with breakpoints at 5q33.2, 7q32 and 7q11.2 [(46, XY,t(5;7;7)(q33.2;q32;q11.2)] as the only abnormality (Figure 1).
case_images: Metaphase FISH using break apart probes for 3'PDGFRB (red signal) and 5'PDGFRB (green signal). Arrow A shows the normal chromosome 5 with an intact PDGFRB fusion signal (yellow). Arrow B shows the derivative chromosome 5 containing only the 3' portion of PDGFRB (red signal). Arrow C shows the derivative chromosome 7 with the translocated 5' portion of PDGFRB (green signal).
case_images: CMAR-13-8841-g0002.jpg
case_images: PMC8629764_01_CMAR-13-8841-g0002.jpg
case_images: f0002
case_images: FISH with PDGFRB and with whole chromosome painting probes to chromosomes 5 and 7 confirmed the 3-way translocation and showed that sequences 5' to PDGFRB were translocated to the derivative chromosome 7 with the 7q32 breakpoint (Figure 2). For other PDGFRB fusions, the critical oncogenic fusion is on the derivative chromosome 5, which retains the 3' portion of PDGFRB (Figure 3).
case_images: Whole chromosome 5 paint with green fluorescent probes. Arrow A shows the normal chromosome 5 with fluorescence label seen throughout the chromosome indicating intact chromosomal material. Arrow B shows the derivative chromosome 5; the unlabeled end of the long arm indicates the translocated chromosomal material from the derivative chromosome 7. Arrow C shows the derivative chromosome 7 containing translocated material from the der(5).
case_images: CMAR-13-8841-g0003.jpg
case_images: PMC8629764_01_CMAR-13-8841-g0003.jpg
case_images: f0003
case_images: FISH with PDGFRB and with whole chromosome painting probes to chromosomes 5 and 7 confirmed the 3-way translocation and showed that sequences 5' to PDGFRB were translocated to the derivative chromosome 7 with the 7q32 breakpoint (Figure 2). For other PDGFRB fusions, the critical oncogenic fusion is on the derivative chromosome 5, which retains the 3' portion of PDGFRB (Figure 3).
case_images: Whole chromosome 7 paint with red fluorescent probes. Arrow A shows the derivative chromosome 7. Arrow B shows the derivative chromosome 7 with the unlabeled part at the end indicating the translocated chromosomal material from the derivative chromosome 5. Arrow C shows the der(5) with translocated chromosomal material from der(7).
case_images: CMAR-13-8841-g0004.jpg
case_images: PMC8629764_01_CMAR-13-8841-g0004.jpg
case_images: f0004
case_images: Thus, the partner gene for this unidentified PDGFRB rearrangement appeared to lie at the 7q11.2 breakpoint (Figure 4).