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. 2023 Jan 20;82(2):183-186.
doi: 10.1093/jnen/nlac112.

PDGFB:APOBEC3C fusion in congenital diffuse high-grade glioma of the brainstem

Gregory A Norris  1   2 , Nicholas Willard  3 , Andrew M Donson  1 , Alisa Gaskell  3 , Sarah A Milgrom  4 , Brent R O'Neill  5 , Hala Nijmeh  6 , Mary Haag  6 , Ahmed Gilani  3 , Nicholas K Foreman  1   2   5 , Nathan A Dahl  1   2
Affiliations

PDGFB:APOBEC3C fusion in congenital diffuse high-grade glioma of the brainstem

Gregory A Norris et al. J Neuropathol Exp Neurol. .
No abstract available

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Figures

Figure 1
Figure 1
Clinical characterization of congenital diffuse high-grade glioma. (A) T1-weighted contrast-enhanced magnetic resonance imaging showing a diffuse brainstem lesion. (B) H&E section at 20× magnification (top) shows sheet-like to trabecular growth of a monotonous, hypercellular tumor in a myxoid and highly vascular background. Tumor cells are characterized by scant, somewhat cleared cytoplasm, and slightly angled nuclear contours. Rare islands of necrosis are seen with pyknotic and karyorrhectic debris and early calcification. Tumor cells vaguely palisade around the necrosis. Immunohistochemistry for Olig2 (middle) shows diffusely positive staining. H3K27me3 staining by immunohistochemistry is retained (bottom). (C) T1-weighted contrast-enhanced magnetic resonance imaging 2.5 years after completion of chemotherapy and focal radiation.
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).
See this image and copyright information in PMC

References

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