Fig. 2

Chromosomal rearrangements and fusion genes in DDLPS. a Circos plot of chromosomal rearrangements across 103 DDLPS tumors. The central circle displays structural rearrangements of the fusion genes. The red and blue lines indicate intra- and interchromosomal rearrangements, respectively, which were recurrently observed in at least six cases, while the gray lines show those which were observed in less than six cases. Case count at each gene was performed by referring to the number of partner-genes; a gene rearranged with multiple positions in one case was recognized as different cases. The second and third inner circles represent the histograms of the cases with intra- and interchromosomal rearrangements, respectively, of the genes at the indicated positions. The range of the axis for the counts of the cases in each histogram is from 0 to 60. b, c Schematic of CTDSP1-DNM3OS (b) and CTDSP2-DNM3OS- (c) fusion genes. The region in the red box includes the genomic breakpoint, and the red vertical bars denote the breakpoints in the mRNA (upper panel). Supporting reads (middle) and sequencing chromatogram (lower) of CTDSP1-DNM3OS from three DDLPS tumors. The red arrow represents the breakpoint. d DNM3OS expression in DDLPS. DDLPS tumors from the JSGC-NCC cohort were classified according to their DNM3OS-fusion status and the high-level copy-number gain (HL-Gain) of DNM3OS. The box signifies the upper and lower quartiles; the center bold line within the box, median; the upper and lower whiskers, upper and lower quartiles +/− interquartile ranges, respectively. *P < 0.05 and **P < 0.01 by Steel-Dwass test. e, f Pearson correlation tests and scatter plots showing the relationship between the expression of MIR214 and DNM3OS in JSGC-NCC (e) and TCGA (f) tumors. The expression of MIR214 and DNM3OS in 30 and 52 DDLPS tumors from JSGC-NCC and TCGA, respectively, was analyzed. The red dots represent DNM3OS-fusion-positive samples. P-values, derived from Pearson’s rank correlation test.