PMC6502896_01
MRI - Axial images. (A) T2W image shows a heterogeneous mass in the left parietal lobe with characteristic multicystic bubbly appearance. (B,C) There are mild peritumoral edema on FLAIR image and diffusion restriction on ADC. (D) No sign of hyperperfusion on dynamic susceptibility-weighted MRI. (E) The T1W post-contrast image shows strong contrast-enhancement of the lesion. (F) Post-contrast-enhanced cerebral MRI performed 20 months after surgery shows no evidence of recurrent/residual disease.
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F1
She was transferred to our department, where magnetic resonance (MR) was performed as part of diagnostic work up; the radiological investigation revealed a left parietal cortical-subcortical lesion, extending to the white matter; tumor size was 3 cm. (Figure 1).
Histology - The tumor was composed of elongated cells with abundant eosinophilic cytoplasm and tapered processes, radiating from the vessels and forming characteristic astroblastic rosettes throughout (A: HE 10x, B: HE 20x). Sclerosing vessels with scattered foamy histiocytes were present (C: HE 20x). Focally, ribbon-like (D: HE 40x) or fusiform patterns were observed (E: HE 40x). A few highly cellular areas with moderate cellular pleomorphism were noticed (F: HE 20x).
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F2
Histologically (Figure 2), the tumor showed non-infiltrative borders and consisted of elongated tapering cells, with abundant eosinophilic cytoplasm, oval nucleus and unconspicuous nucleolus.
MDS (multidimensional scaling) analysis performed on the 1000 most variable probes of the whole genome DNA methylation data shows a close similarity between our case (OPBG) and CNS-HGNET-MN1, while it clearly separates from other CNS-HGNET. Color legend of the MDS plot as follows: Astroblastoma case (black); CNS-NB-FOXR2 (blue); EFT-CIC (violet); HGNET-MN1 (pink); HGNET-BCOR (light green).
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F3
CNS-HGNET-MN1, as evidenced by MDS performed on the 1000 most variable islands in the cohort (Figure 3). Copy number plot showed loss of chromosome X (Figure 4).
Copy number variation profile - Depiction of chromosome 1 to 22 and X. Gains/amplifications represent positive (green), losses negative (red) deviations from the baseline. 29 brain tumor relevant genomic regions are highlighted. The presented case showed losses of chromosome X and multiple deletions near the MN1 locus on 22q12.1.
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F4
CNS-HGNET-MN1, as evidenced by MDS performed on the 1000 most variable islands in the cohort (Figure 3). Copy number plot showed loss of chromosome X (Figure 4).