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Case Reports
. 2024 Sep 3;148(1):35.
doi: 10.1007/s00401-024-02792-0.

Glioblastoma, IDH-wildtype with primarily leptomeningeal localization diagnosed by nanopore sequencing of cell-free DNA from cerebrospinal fluid

Nik Sol #  1 , Evert-Jan Kooi #  2 , Marc Pagès-Gallego  3   4 , Dieta Brandsma  1 , Marianna Bugiani  2 , Jeroen de Ridder  3   4 , Pieter Wesseling  2   5 , Carlo Vermeulen  6   7
Affiliations
Case Reports

Glioblastoma, IDH-wildtype with primarily leptomeningeal localization diagnosed by nanopore sequencing of cell-free DNA from cerebrospinal fluid

Nik Sol et al. Acta Neuropathol. .
No abstract available

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Figures

Fig. 1
Fig. 1
Clinical diagnostics. a Sagittal and axial post-contrast T1-weighted MRI images show contrast enhancement around the folia of the cerebellum and the pons (indicated arrows in I, II). Axial post-contrast T1-weighted image shows contrast enhancement of cranial nerve VII and VIII on both sides (arrows in III). b Size distribution of the sequence reads obtained from CSF DNA sequencing. c CNV profile obtained from nanopore sequencing. d Sturgeon classification with a confident (> 0.95) classification as Glioblastoma—MID
Fig. 2
Fig. 2
Autopsy findings. A coronal brain section showed leptomeningeal opacification and thickening (a; white arrowheads), the parasagittal part with a rough surface partly due to the presence of granulations of Pacchioni. Microscopically, atypical cells are diffusely spread throughout the leptomeningeal compartment (b). In several regions, such cells were also (but relatively subtly) present in the subependymal/periventricular region, e.g., near the hippocampus (c, d; square box), with more dense accumulation of these cells in an adjacent, deeply invaginating cerebral sulcus (*). Immunohistochemical staining for Olig2 (e) and Ki-67 (f) confirmed the glial nature of the tumor and its moderate proliferative activity, respectively. L: leptomeninges; CTX: molecular layer of the cerebral cortex; HE: hematoxylin and eosin staining
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References

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    1. Katsuhara T, Moro N, Ohta T, Homma T, Yoshino A (2018) Solitary primary intracranial leptomeningeal glioblastoma invading the normal cortex: case report. Mol Clin Oncol 8:466–470 - PMC - PubMed
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