1. Glioblastoma, IDH-wildtype with primarily leptomeningeal localization diagnosed by nanopore sequencing of cell-free DNA from cerebrospinal fluid.
- Author
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Sol, Nik, Kooi, Evert-Jan, Pagès-Gallego, Marc, Brandsma, Dieta, Bugiani, Marianna, de Ridder, Jeroen, Wesseling, Pieter, and Vermeulen, Carlo
- Subjects
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CEREBRAL sulci , *TELOMERASE reverse transcriptase , *POSITRON emission tomography computed tomography , *HEMATOXYLIN & eosin staining , *DNA analysis , *CEREBROSPINAL fluid examination - Abstract
This article presents a case study of a 74-year-old male who presented with symptoms of headache, hand tremors, and cognitive disturbances. MRI scans revealed leptomeningeal contrast enhancement, and the patient's medical history included prostate cancer and a neuroendocrine tumor. Cerebrospinal fluid (CSF) analysis showed increased leukocyte numbers and protein levels, consistent with leptomeningeal metastatic disease. Next-generation sequencing of cell-free DNA from the CSF revealed a telomerase reverse transcriptase (TERT) promoter mutation, suggesting a leptomeningeal malignancy. Autopsy confirmed the diagnosis of glioblastoma, IDH-wildtype, primarily growing in the leptomeninges. The study highlights the potential of DNA methylation profiling using nanopore sequencing of CSF as a minimally invasive diagnostic tool for glioblastoma. [Extracted from the article]
- Published
- 2024
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