case_images: PMC8427297_01
case_images: (A) Array comparative genomic hybridization showing the breakpoints of 9p13/PAX5 and 7p13/UBE2D4. (B) FISH assay showing the splitting of the N terminus (green, RP11-344B23) and C-terminus (red, RP11-652D9) of WT PAX5. (C) Sanger sequencing confirmed that PAX5 exon 7 was fused out-of-frame with UBE2D4 exon 2, and the schematics show the domains of the PAX5-UBE2D4 (PU) fusion protein, including PBD (DNA-binding domain), OP (octapeptide motif), NLS (nuclear localization sequence) and HD (homeodomain), and an additional 19-amino acid tail encoded by the UBE2D4 gene. (D) Nuclear localization of the PU fusion protein as shown by a nucleus and cytosol separation assay. (E) The transcription activity of the PU fusion and its dominant negative effect on PAX5 transcription activity based on the CD19 promoter luciferase reporter assay. P values are from Fisher's exact test. *P <= 0.05, **P <= 0.01.
case_images: fonc-11-703612-g001.jpg
case_images: PMC8427297_01_fonc-11-703612-g001.jpg
case_images: f1
case_images: Flow cytometric analysis revealed that 23.4% of the BM blast cells were positive for HLA-DR, CD10, CD20, CD19, CD13, CD33, CD34, MPO and CD79a but negative for CD117, CD14, CD15, CD2, CD3, and CD7 (Supplementary Figure 1).