Presenter
Assem S. Alrumeh
Authors
Assem S. Alrumeh1,2, Cynthia Hawkins1,3, Gelareh Zadeh4, Phedias Diamandis1,2, Andrew F. Gao1,2
1Dept. of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada
2Laboratory Medicine Program, University Health Network, Toronto, ON, Canada
3Dept. of Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada
4Div. of Neurosurgery, Krembil Neuroscience Program, University Health Network, Toronto, ON, Canada
Clinical Summary
A 51-year-old woman presented with a 6-month history of persistent and progressive headache associated with dizziness and right tinnitus.
Neuroimaging revealed an enhancing tumor likely arising from the vermis with exophytic growth, filling much of the fourth ventricle. There was nodular enhancement along the superior cerebellar folia contiguous with the mass. Imaging of the spine was normal. Systemic imaging (CT chest, abdomen, and pelvis) was negative.
Following surgery, the patient was treated with 6 weeks of radiotherapy. Concomitant temozolomide was discontinued due to thrombocytopenia. Upon disease progression approximately 33 months after initial diagnosis, targeted therapy was trialed, but the patient ultimately succumbed to her disease 6 months later.
Discussion points
- Molecular differential diagnosis?
- Diagnostic workup?
Reveal Diagnosis
High-grade astrocytoma with piloid features
Additional relevant investigations and comment.
– Positive for NF1 p.F1247Ifs*18 and NF1p.E1264* mutations
– Positive for CDKN2A deletion
– ATRX loss of expression
– Brain tumour methylation classifier calibrated score 0.99
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