PMC9892899_01
Patient imaging findings. (A) Patient #1 imaging findings at 3rd recurrence. Axial T1-weighted MRI with gadolinium showing an enhancing nodule (arrow) along the anterior-superior margin of the previous left frontal resection cavity. (B) Patient #2 imaging at initial presentation. Left to right: Axial CT without contrast, Axial T2/FLAIR MRI, and Axial T1-weighted MRI with gadolinium. Lobular homogeneously enhancing mass with cystic component in the right frontotemporal region, with vasogenic edema, mass effect, midline shift, and intratumoral calcification (arrow). (C) Patient #3 imaging at initial presentation. Left to right, Axial T2/FLAIR MRI, and Axial T1-weighted MRI with gadolinium. Large heterogeneously enhancing left parieto-occipital mass with perilesional edema and midline shift.
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A brain MRI revealed a left parieto-occipital enhancing mass ( Figure 1C ). CLIA certified laboratories revealed a methylation class of "CNS high-grade neuroepithelial tumor with MN1 alteration" ( Figure 2D ). Copy number variations can be found in  Supplementary Figure 1 .
H&E-stained sections of tumors and UMAP embedding of DNA methylation array data for select tumor types. (A-C) H&E-stained sections showing the range of histologic characteristics of astroblastoma (wide-tapered perivascular pseudorosettes and prominent hyalinization) for patient 1 (A), patient 2 (B), and patient 3 (C). (D) UMAP embedding of MN1-altered astroblastoma samples (HGNET-MN1), embedded among select groups of CNS tumors. Three samples from MN1-fused patients discussed in this study are included in a blue circle.
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Histopathology revealed a malignant and infiltrative neoplasm composed of sheets of cells with abundant eosinophilic to clear cytoplasm, eccentric nuclei, and prominent nucleoli with associated areas of hemorrhage and tumor necrosis, but also perivascular pseudorosettes ( Figure 2C ). CLIA certified laboratories revealed a methylation class of "CNS high-grade neuroepithelial tumor with MN1 alteration" ( Figure 2D ). Copy number variations can be found in  Supplementary Figure 1 .
PMC9892899_02
Patient imaging findings. (A) Patient #1 imaging findings at 3rd recurrence. Axial T1-weighted MRI with gadolinium showing an enhancing nodule (arrow) along the anterior-superior margin of the previous left frontal resection cavity. (B) Patient #2 imaging at initial presentation. Left to right: Axial CT without contrast, Axial T2/FLAIR MRI, and Axial T1-weighted MRI with gadolinium. Lobular homogeneously enhancing mass with cystic component in the right frontotemporal region, with vasogenic edema, mass effect, midline shift, and intratumoral calcification (arrow). (C) Patient #3 imaging at initial presentation. Left to right, Axial T2/FLAIR MRI, and Axial T1-weighted MRI with gadolinium. Large heterogeneously enhancing left parieto-occipital mass with perilesional edema and midline shift.
fonc-13-1099618-g001.jpg
PMC9892899_03_fonc-13-1099618-g001.jpg
f1
A brain MRI revealed a left parieto-occipital enhancing mass ( Figure 1C ). CLIA certified laboratories revealed a methylation class of "CNS high-grade neuroepithelial tumor with MN1 alteration" ( Figure 2D ). Copy number variations can be found in  Supplementary Figure 1 .
H&E-stained sections of tumors and UMAP embedding of DNA methylation array data for select tumor types. (A-C) H&E-stained sections showing the range of histologic characteristics of astroblastoma (wide-tapered perivascular pseudorosettes and prominent hyalinization) for patient 1 (A), patient 2 (B), and patient 3 (C). (D) UMAP embedding of MN1-altered astroblastoma samples (HGNET-MN1), embedded among select groups of CNS tumors. Three samples from MN1-fused patients discussed in this study are included in a blue circle.
fonc-13-1099618-g002.jpg
PMC9892899_03_fonc-13-1099618-g002.jpg
f2
Histopathology revealed a malignant and infiltrative neoplasm composed of sheets of cells with abundant eosinophilic to clear cytoplasm, eccentric nuclei, and prominent nucleoli with associated areas of hemorrhage and tumor necrosis, but also perivascular pseudorosettes ( Figure 2C ). CLIA certified laboratories revealed a methylation class of "CNS high-grade neuroepithelial tumor with MN1 alteration" ( Figure 2D ). Copy number variations can be found in  Supplementary Figure 1 .
PMC9892899_03
Patient imaging findings. (A) Patient #1 imaging findings at 3rd recurrence. Axial T1-weighted MRI with gadolinium showing an enhancing nodule (arrow) along the anterior-superior margin of the previous left frontal resection cavity. (B) Patient #2 imaging at initial presentation. Left to right: Axial CT without contrast, Axial T2/FLAIR MRI, and Axial T1-weighted MRI with gadolinium. Lobular homogeneously enhancing mass with cystic component in the right frontotemporal region, with vasogenic edema, mass effect, midline shift, and intratumoral calcification (arrow). (C) Patient #3 imaging at initial presentation. Left to right, Axial T2/FLAIR MRI, and Axial T1-weighted MRI with gadolinium. Large heterogeneously enhancing left parieto-occipital mass with perilesional edema and midline shift.
fonc-13-1099618-g001.jpg
PMC9892899_03_fonc-13-1099618-g001.jpg
f1
A brain MRI revealed a left parieto-occipital enhancing mass ( Figure 1C ). CLIA certified laboratories revealed a methylation class of "CNS high-grade neuroepithelial tumor with MN1 alteration" ( Figure 2D ). Copy number variations can be found in  Supplementary Figure 1 .
H&E-stained sections of tumors and UMAP embedding of DNA methylation array data for select tumor types. (A-C) H&E-stained sections showing the range of histologic characteristics of astroblastoma (wide-tapered perivascular pseudorosettes and prominent hyalinization) for patient 1 (A), patient 2 (B), and patient 3 (C). (D) UMAP embedding of MN1-altered astroblastoma samples (HGNET-MN1), embedded among select groups of CNS tumors. Three samples from MN1-fused patients discussed in this study are included in a blue circle.
fonc-13-1099618-g002.jpg
PMC9892899_03_fonc-13-1099618-g002.jpg
f2
Histopathology revealed a malignant and infiltrative neoplasm composed of sheets of cells with abundant eosinophilic to clear cytoplasm, eccentric nuclei, and prominent nucleoli with associated areas of hemorrhage and tumor necrosis, but also perivascular pseudorosettes ( Figure 2C ). CLIA certified laboratories revealed a methylation class of "CNS high-grade neuroepithelial tumor with MN1 alteration" ( Figure 2D ). Copy number variations can be found in  Supplementary Figure 1 .
PMC9892899_04