This work was presented at the 2013 Pediatric Neuro-Oncology Basic and Translational Research Conference, Society of Neuro-Oncology, Fort Lauderdale, 16–17 May 2013.
Clinical, radiological, histological and molecular characteristics of paediatric epithelioid glioblastoma
Article first published online: 13 MAR 2014
© 2013 British Neuropathological Society
Neuropathology and Applied Neurobiology
Volume 40, Issue 3, pages 327–336, April 2014
How to Cite
Broniscer, A., Tatevossian, R. G., Sabin, N. D., Klimo, P., Dalton, J., Lee, R., Gajjar, A. and Ellison, D. W. (2014), Clinical, radiological, histological and molecular characteristics of paediatric epithelioid glioblastoma. Neuropathology and Applied Neurobiology, 40: 327–336. doi: 10.1111/nan.12093
D.W.E. and A.B. have contributed equally.
- Issue published online: 13 MAR 2014
- Article first published online: 13 MAR 2014
- Accepted manuscript online: 15 OCT 2013 10:11AM EST
- Manuscript Accepted: 8 OCT 2013
- Manuscript Received: 29 JUL 2013
- United States National Institutes of Health Cancer Center Support (CORE). Grant Number: P30 CA21765
- Musicians Against Childhood Cancer (MACC)
- Noyes Brain Tumor Foundation
- American Lebanese Syrian Associated Charities (ALSAC)
A few case series in adults have described the characteristics of epithelioid glioblastoma (e-GB), one of the rarest variants of this cancer. We evaluated clinical, radiological, histological and molecular characteristics in the largest series to date of paediatric e-GB.
Review of clinical characteristics and therapy, imaging studies and histology was performed in patients younger than 22 years with e-GB seen at our institution over 15 years. Sequencing of hotspot mutations and fluorescence in situ hybridization of relevant genes were undertaken.
Median age at diagnosis of six patients was 7.6 years. Tumours originated in the cerebral cortex (n = 2) or diencephalon (n = 4). Three patients presented with acute, massive haemorrhage and three had leptomeningeal dissemination at diagnosis. Paediatric e-GB had the typical histological characteristics seen in adult tumours. Universal immunoreactivity for INI1 and lack of diverse protein expression were seen in all cases. One tumour had a chromosome 22q loss. Three tumours (50%) harboured a BRAF: p.V600E. One thalamic tumour had an H3F3A p.K27M. All patients received radiation therapy with (n = 3) or without chemotherapy (n = 3). All patients experienced tumour progression with a median survival of 169 days. One patient with nonmetastatic disease had early leptomeningeal progression. Two patients had symptomatic tumour spread outside the central nervous system (CNS) through a ventriculoperitoneal shunt. One additional patient had widespread metastases outside the CNS identified at autopsy.
Paediatric e-GBs are rare cancers with an aggressive behaviour that share histological and genetic characteristics with their adult counterparts. BRAF inhibition is a potential treatment for these tumours.