Genomic Breakpoint Characterization and Transcriptome Analysis of Metastatic, Recurrent Desmoplastic Small Round Cell Tumor

Figure 3

Primary versus recurrent DSRCT RNA sequencing analysis: (a) RNA sequencing analysis identified 1584 upregulated genes (>2 log2FC, red points) and 1293 downregulated genes (<−2 log2FC, blue points) in recurrent versus primary DSRCTs. Volcano plots of differentially expressed genes between DSRCT (n = 2) and (b) normal connective tissue (n = 2) or (c) normal liver (n = 5). (d) Venn diagrams comparing upregulated and downregulated GO-BP pathways as identified by GSEA on recurrent versus primary DSRCTs (red), DSRCT versus SARC normal tissues (green), or DSRCT versus LIHC normal tissues (purple). (e) Select significantly altered GO-BP pathways identified in (d) with GSEA. Y-axis indicates direction and magnitude of pathway enrichment where positive values indicate higher expression in recurrent versus primary DSRCT or in DSRCT versus normal tissues (plotted as direction -log(FDR). (f) GSEA on recurrent versus primary DSRCT showing positive enrichment of DNA replication and negative enrichment of adaptive immune response.

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