Figure 5. Identification of frequent PVT1-MYC fusion genes in Group 3.
a, b, RNASeq identifies multiple fusion transcripts driven by PVT1 in Group 3. Schematics depict the structures of verified PVT1-MYC (b) and PVT1-NDRG1 (c) fusion genes. c, Heatmap of the MYC/PVT1 locus showing a subset of 13 MYC-amplified Group 3 cases subsequently verified to exhibit PVT1 gene fusions (shown in d). Yellow box highlights the common breakpoint affecting the first exon/intron of PVT1, including miR-1204. d, Summary of PVT1 fusion transcripts identified in Group 3. e, f, WGS confirms complex patterns of rearrangement on chr8q24 in PVT1 fusion(+) Group 3.