A Case of Cerebellar Intraparenchymal Subependymoma with Next-Generation Sequencing Analysis

Int J Surg Pathol. 2023 Feb;31(1):69-75. doi: 10.1177/10668969221098091. Epub 2022 May 4.

Abstract

Subependymomas are rare, intraventricular glial tumors histologically characterized by clusters of small uniform cells distributed in an abundant fibrillary matrix. These tumors can arise in the parenchyma of the cerebrum, cerebellum, or spinal cord. Herein, we report an extremely rare case of cerebellar intraparenchymal subependymoma in a 62-year-old woman. The patient presented with dizziness for several years, and brain magnetic resonance imaging revealed a well-defined solid mass in the right cerebellum, upon which a stereotactic biopsy was performed. Histologically, the tumor showed a distinctive multinodular pattern with unevenly distributed glial cells and an abundant fibrillary matrix. Next-generation sequencing analysis showed balanced genomes without genetic alterations, including single-nucleotide variants, small insertions, deletions, or copy number alterations. Follow-up magnetic resonance imaging revealed that the size of the mass has not changed; the patient has not received any surgical treatments since the pathologic diagnosis and is living healthily.

Keywords: MRI; cerebellar subependymoma; glioma; intraparenchymal; next-generation sequencing.

Publication types

  • Case Reports

MeSH terms

  • Cerebellum / pathology
  • Female
  • Glioma* / pathology
  • Glioma, Subependymal* / diagnosis
  • Glioma, Subependymal* / genetics
  • Glioma, Subependymal* / surgery
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Spinal Cord / pathology