Presenter

Adrienn Bourkas

Bio

Adrienn Bourkas is a PGY1 neuropathology resident at the University of Toronto. Born in Budapest and raised in Toronto, she completed her BSc and MSc in Biochemistry, with research experience in neurodegeneration and rare hematologic disorders at the Tanz Centre and SickKids. She earned her MD at Queen’s University, where she was involved in projects ranging from AI diagnostics to oncology and orphan diseases. Her current interests include neuro-oncology, molecular diagnostics, and the future of personalized pathology.

Authors

Adrienn Bourkas1, Gelareh Zadeh2, Andrew F. Gao1

¹ Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada
² Department of Neurosurgery, Mayo Clinic, Rochester, MN, USA

Conflict of Interest

I do not have a relationship with a for-profit and/or a not-for-profit organization to disclose.

Clinical Summary

A 79-year-old man presented with progressive imbalance and dizziness, prompting an emergency department visit. Neurological examination revealed gait instability without other focal deficits. He denied dysphagia or vocal changes. Past medical history included coronary artery disease and cerebrovascular disease.

Magnetic resonance imaging demonstrated a partially cystic, heterogeneously enhancing mass in the right cerebellopontine angle, extending into the jugular foramen, with associated brainstem compression. The patient underwent a right retrosigmoid craniotomy with subtotal resection.

Discussion points

  1. What is the differential diagnosis and immunohistochemical workup?
  2. What molecular testing would be useful?
  3. What is the clinical and prognostic significance of this diagnosis?
Reveal Diagnosis

The tumor demonstrates histologic features in keeping with a proliferative (WHO grade II) ependymoma, while DNA methylation profiling is most consistent with subependymoma.
To reconcile this discrepancy, we propose the terms “grade II subependymoma” or “ependymoma, posterior fossa type C” as diagnostic considerations.

Additional relevant investigations and comment:
CNV plot, immunohistochemistry

 

0 Comments