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Genetic heterogeneity for SMARCB1, H3F3A and BRAF in a malignant childhood brain tumour: genetic-pathological correlation

Angelini, P; Chalker, J; Austin, N; Hing, S; Paine, S; Mankad, K; Hargrave, D; (2015) Genetic heterogeneity for SMARCB1, H3F3A and BRAF in a malignant childhood brain tumour: genetic-pathological correlation. Neuropathology and Applied Neurobiology , 41 (6) pp. 832-836. 10.1111/nan.12257. Green open access

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Abstract

Intra-tumour heterogeneity is an important diagnostic, therapeutic and prognostic challenge. Its extent and mechanism in brain tumours is incompletely understood[1]. We describe a malignant tumour with unique pathological and genetic features. Most notably the tumour contained mutations in the SMARCB1 gene (typically associated with Atypical Teratoid/Rhabdoid Tumours[2]), the H3F3A gene (typically associated with high grade glioma in children[3]) and the BRAF gene. Furthermore, there was marked heterogeneity in mutation load between different parts of the tumour. This heterogeneity has implications both for the evolution of the tumour and for its diagnosis.

Type: Article
Title: Genetic heterogeneity for SMARCB1, H3F3A and BRAF in a malignant childhood brain tumour: genetic-pathological correlation
Open access status: An open access version is available from UCL Discovery
DOI: 10.1111/nan.12257
Publisher version: http://dx.doi.org/10.1111/nan.12257
Language: English
Additional information: Copyright © 1999-2015 John Wiley & Sons, Inc. All Rights Reserved. This is the peer reviewed version of the following article: Angelini, P; Chalker, J; Austin, N; Hing, S; Paine, S; Mankad, K; Hargrave, D; (2015) Genetic heterogeneity for SMARCB1, H3F3A and BRAF in a malignant childhood brain tumour: genetic-pathological correlation. Neuropathology and Applied Neurobiology , 41 (6) pp. 832-836. 10.1111/nan.12257, which has been published in final form at http://dx.doi.org/10.1111/nan.12257. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.
Keywords: Atypical teratoid/rhabdoid tumour; tumour heterogeneity; INI-1; histone; BRAF; children; brain tumours
UCL classification: UCL
UCL > Provost and Vice Provost Offices
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 Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Biology and Cancer Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1469425
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