Figure 3

Validation and identification of fusion genes. (A) Structure of the LRP1-SNRNP25 fusion gene. Sanger sequencing of the fusion junction is shown at the bottom. (B) RT-PCR validation of fusion transcript in the sequenced cohort. Matched normal white blood cells (WBC) were negative for fusion. (C) RT-PCR identified a second fusion positive case in a validation cohort of 20 osteosarcomas. (D) Fusion leads to elevated expression of SNRNP25 exons 2-5. (E) Interchromosomal rearrangement juxtaposing LRP1 and SNRNP25 was validated using fluorescence in situ hybridization (FISH). Arrows indicate overlapping probes.