Presenter
Shane Eaton
Bio
Shane Eaton is a PGY4 resident in Neuropathology at the University of Toronto.
Authors
Shane Eaton1,2, Mahmood Fazl3, Chris Heyn4, Eric Tseng5, Andrew Gao6,2, Julia Keith1,2
1Laboratory Medicine and Molecular Diagnostics, Sunnybrook Health Sciences Centre, Toronto, Ontario
2Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario
3Department of Surgery, Division of Neurosurgery, Sunnybrook Health Sciences Centre and University of Toronto, Toronto, Ontario
4Department of Medical Imaging, Sunnybrook Health Sciences Centre and University of Toronto, Toronto, Ontario
5Department of Radiation Oncology, Sunnybrook Health Sciences Centre and University of Toronto, Toronto, Ontario
6Laboratory Medicine Program, Division of Anatomic Pathology, University Health Network, Toronto, Ontario
Conflict of Interest
I do not have a relationship with a for-profit and/or a not-for-profit organization to disclose.
Clinical Summary
Clinical Summary: This 48 year old woman was previously healthy and presented with 3 months of left sided arm and leg weakness. CT head followed by MRI showed a 3cm heterogenously enhancing tumour in the right anterior temporal region with significant surrounding edema and mass effect including midline shift and right uncal herniation (see Fig1a,b). The neuroradiologists noted several unusual features including difficulty in determining whether the lesion was extra-axial with candidate brain invasion or intra-axial and superficial, the margins were ill-defined, and the adjacent brain edema was extensive. CT of the chest/abdo/pelvis was negative. She underwent right frontotemporal craniotomy with total resection of the tumour, the histology is enclosed for discussion. Post-operative imaging showed no evidence of residual tumour. Based on the provided pathologic diagnosis she was not offered chemotherapy or radiation therapy and has been followed with serial MRIs q4 months for the past 3 years without evidence of recurrence.
Discussion points
- What is your DDx of the H&E stained slide?
- What additional work-up (IHC and molecular testing) would you perform?
Reveal Diagnosis
Intra-cranial mesenchymal tumour with FET-CREB fusion
Additional relevant investigations and comment:
Positive for EWSR1 gene rearrangement by FISH. Positive for EWSR1-CREB1 fusion by RNA fusion panel testing.
References
1. Tauziede-Espariat et al. Brain Pathol 2022;32:e13010
2. Sloan et al. Brain Pathol 2021; 31(4):e12918
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