Avanita S Prabowo1, Hinke Foka van Thuijl2,3, Ilari Scheinin3,4, Daoud Sie3, Hendrik F van Essen3, Anand M Iyer1, Wim G M Spliet5, Cyrille H Ferrier6,7, Peter C van Rijen6, Tim J Veersema6,8, Maria Thom9, Annetteke Y N Schouten-van Meeteren10, Jaap C Reijneveld11,2, Bauke Ylstra3, Pieter Wesseling3,12, Eleonora Aronica1,13,14. 1. Department of (Neuro)Pathology, University of Amsterdam, Amsterdam, The Netherlands. 2. Department of Neurology, VU University Medical Center, Amsterdam, The Netherlands. 3. Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands. 4. Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland. 5. Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands. 6. Department of Neurosurgery, University Medical Center Utrecht, Utrecht, The Netherlands. 7. Clinical Neurophysiology/Rudolf Magnus Institute for Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands. 8. Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands. 9. Neuropathology Department, University College London Institute of Neurology, London, UK. 10. Department of Paediatric Oncology, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands. 11. Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. 12. Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands. 13. Swammerdam Institute for Life Sciences, Centre for Neuroscience, University of Amsterdam, Amsterdam, The Netherlands. 14. SEIN - Stichting Epilepsie Instellingen Nederland, Heemstede, The Netherlands.
Abstract
AIM: Gangliogliomas (GGs) and dysembryoplastic neuroepithelial tumours (DNTs) represent the most common histological entities within the spectrum of glioneuronal tumours (GNTs). The wide variability of morphological features complicates histological classification, including discrimination from prognostically distinct diffuse low-grade astrocytomas (AIIs). This study was performed to increase our understanding of these tumours. METHODS: We studied chromosomal copy number aberrations (CNAs) by genome-wide sequencing in a large cohort of GNTs and linked these to comprehensive histological analysis and clinical characteristics. One hundred fourteen GNTs were studied: 50 GGs and 64 DNTs. Also, a data set of CNAs from 38 diffuse AIIs was included. RESULTS: The most frequent CNAs in both GGs and DNTs were gains at chromosomes 5 and 7, often concurrent, and gain at chromosome 6. None of the CNAs was linked to histological subtype, immunohistochemical features or to clinical characteristics. Comparison of AIIs and diffuse GNTs revealed that gain at whole chromosome 5 is only observed in GNTs. CNA patterns indicative of chromothripsis were detected in three GNTs. CONCLUSION: We conclude that GNTs with diverse morphologies share molecular features, and our findings support the need to improve classification and differential diagnosis of tumour entities within the spectrum of GNTs, as well as their distinction from other gliomas.
AIM: Gangliogliomas (GGs) and dysembryoplastic neuroepithelial tumours (DNTs) represent the most common histological entities within the spectrum of glioneuronal tumours (GNTs). The wide variability of morphological features complicates histological classification, including discrimination from prognostically distinct diffuse low-grade astrocytomas (AIIs). This study was performed to increase our understanding of these tumours. METHODS: We studied chromosomal copy number aberrations (CNAs) by genome-wide sequencing in a large cohort of GNTs and linked these to comprehensive histological analysis and clinical characteristics. One hundred fourteen GNTs were studied: 50 GGs and 64 DNTs. Also, a data set of CNAs from 38 diffuse AIIs was included. RESULTS: The most frequent CNAs in both GGs and DNTs were gains at chromosomes 5 and 7, often concurrent, and gain at chromosome 6. None of the CNAs was linked to histological subtype, immunohistochemical features or to clinical characteristics. Comparison of AIIs and diffuse GNTs revealed that gain at whole chromosome 5 is only observed in GNTs. CNA patterns indicative of chromothripsis were detected in three GNTs. CONCLUSION: We conclude that GNTs with diverse morphologies share molecular features, and our findings support the need to improve classification and differential diagnosis of tumour entities within the spectrum of GNTs, as well as their distinction from other gliomas.
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