eISSN: 1509-572x
ISSN: 1641-4640
Folia Neuropathologica
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2/2021
vol. 59
 
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abstract:
Case report

Epigenome-wide data collection in a case of gliofibroma

Felix Behling
1, 2, 3
,
Florian Hennersdorf
4
,
Jens Schittenhelm
2, 3, 5

1.
Department of Neurosurgery, Eberhard Karls University, Tübingen, Germany
2.
Cancer Center Tübingen, Eberhard Karls University, Tübingen, Germany
3.
German Cancer Consortium (DKTK), DKFZ partner site Tübingen, Germany
4.
Department of Diagnostic and Interventional Neuroradiology, Eberhard Karls University, Tübingen, Germany
5.
Department of Neuropathology, Eberhard Karls University, Tübingen, Germany
Folia Neuropathol 2021; 59 (2): 212-218
Online publish date: 2021/06/30
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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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