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Diagnostic, prognostic and predictive relevance of molecular markers in gliomas

Brandner, S; Von Deimling, A; (2015) Diagnostic, prognostic and predictive relevance of molecular markers in gliomas. Neuropathology and Appled Neurobiology , 41 (6) pp. 694-720. 10.1111/nan.12246. Green open access

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Abstract

The advances of genome-wide ‘discovery platforms’ and the increasing affordability of the analysis of significant sample sizes have led to the identification of novel mutations in brain tumours that became diagnostically and prognostically relevant. The development of mutation-specific antibodies has facilitated the introduction of these convenient biomarkers into most neuropathology laboratories and has changed our approach to brain tumour diagnostics. However, tissue diagnosis will remain an essential first step for the correct stratification for subsequent molecular tests, and the combined interpretation of the molecular and tissue diagnosis ideally remains with the neuropathologist. This overview will help our understanding of the pathobiology of common intrinsic brain tumours in adults and help guiding which molecular tests can supplement and refine the tissue diagnosis of the most common adult intrinsic brain tumours. This article will discuss the relevance of 1p/19q codeletions, IDH1/2 mutations, BRAF V600E and BRAF fusion mutations, more recently discovered mutations in ATRX, H3F3A, TERT, CIC and FUBP1, for diagnosis, prognostication and predictive testing. In a tumour-specific topic, the role of mitogen-activated protein kinase pathway mutations in the pathogenesis of pilocytic astrocytomas will be covered.

Type: Article
Title: Diagnostic, prognostic and predictive relevance of molecular markers in gliomas
Open access status: An open access version is available from UCL Discovery
DOI: 10.1111/nan.12246
Publisher version: http://dx.doi.org/10.1111/nan.12246
Language: English
Additional information: This is the peer reviewed version of the following article: Brandner, S; Von Deimling, A; (2015) Diagnostic, prognostic and predictive relevance of molecular markers in gliomas. Neuropathology and Appled Neurobiology , 41 (6) pp. 694-720., which has been published in final form at http://dx.doi.org/10.1111/nan.12246. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.
Keywords: 1p/19q codeletion, ATRX, biomarker, glioblastoma, IDH mutation, oligodendroglioma
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/1468397
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