Abstract
2/2021
vol. 59
Case report
Epigenome-wide data collection in a case of gliofibroma
- Department of Neurosurgery, Eberhard Karls University, Tübingen, Germany
- Cancer Center Tübingen, Eberhard Karls University, Tübingen, Germany
- German Cancer Consortium (DKTK), DKFZ partner site Tübingen, Germany
- Department of Diagnostic and Interventional Neuroradiology, Eberhard Karls University, Tübingen, Germany
- Department of Neuropathology, Eberhard Karls University, Tübingen, Germany
Folia Neuropathol 2021; 59 (2): 212-218
Online publish date: 2021/06/30
Gliofibroma is a rare tumour entity with glial and mesenchymal histological features. We describe the case of a 30-year-old woman who presented with a short history of intermittent left-sided facial pain and paraesthesia of the left upper extremity. Histologically, the tumour consisted of a mixture of glial fibrillary acidic protein (GFAP)-positive glial cells and collagen-rich stroma. Immunohistochemical and molecular analysis showed no IDH1/2, BRAF, H3F3A mutations or ATP-dependent helicase (ATRX) loss in this tumour. Illumina Infinium HumanMethylation450 BeadChip array (HM450) methylation profile of the tumour was different from typical glioma entities. Genome-wide DNA copy number analysis showed partial loss of chromosome 3 and 8. All previous cases are reviewed. Our data support the classification of gliofibroma as a rare, but distinct brain tumour entity with good prognosis.
Keywords
gliofibroma, epigenomic analysis, 450k methylation array, WHO classification, rare brain tumour
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