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. 2022 Nov 28;82(2):183–186. doi: 10.1093/jnen/nlac112

Figure 2.

Figure 2

Identification of a PDGFB:APOBEC3C fusion. (A) DNA methylation reveals focal amplification at chromosome 22 (insert) without other copy number variations. (B) Circos plot visualizing RNA-seq-based detection of fusion event on chromosome 22. (C) Fusion transcript mapped to 22q13.1 containing PDGFB PDGF/VEGF domain and APOBEC3C N-terminal domain. (D) Interphase FISH using PDGFB break-apart probe. 3′ end is labeled in red and 5′ with green; a normal arrangement is indicated by gold or fused red/green signal. (E) ssGSEA enrichment scores for patient sample (n = 1, red), infant-type diffuse gliomas (n = 4, black), or normal brain samples (n = 8, grey) using canonical PDGF signaling gene sets. (F) Immunohistochemistry for PDGFRA (left) and pERK (right).