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Journal of Cancer Research and Clinical Oncology

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01-01-2016 | Original Article – Cancer Research

Analysis of IDH1-R132 mutation, BRAF V600 mutation and KIAA1549–BRAF fusion transcript status in central nervous system tumors supports pediatric tumor classification

Authors: Midea Gierke, Jan Sperveslage, David Schwab, Rudi Beschorner, Martin Ebinger, Martin U. Schuhmann, Jens Schittenhelm

Published in: Journal of Cancer Research and Clinical Oncology | Issue 1/2016

Abstract

Objective

Gliomas are the leading cause of cancer-related morbidity in children and comprise a clinical, histological and molecular heterogenous group of CNS tumors. Appropriate treatment of these tumors relies on correct classification into tumor types and malignancy grades.

Methods

We examined 170 (0–18 years) pediatric and 131 (19–35 years) young adult brain tumors including pilocytic astrocytomas (PAs), pilomyxoid astrocytomas (PMAs), diffuse astrocytomas (DAs), gangliogliomas, dysembryoplastic neuroepithelial tumors (DNTs) and pleomorphic xanthoastrocytomas (PXAs) for IDH1 and BRAF mutation/BRAF fusion gene status. The obtained data were compared to results in 464 (<35 years) adult brain tumors. In 32 tumors with an oligodendroglial or mixed glioma differentiation, additionally the LOH1p/19q status was determined.

Results

By combining immunohistochemistry and molecular methods, IDH1/2 mutations were observed in 6 pediatric, 35 young adult and 43 adult tumors of the astrocytic/oligodendroglial lineage. BRAF V600E mutations (20 pediatric, 7 young adults and 2 adults) were found mostly in gangliogliomas, PXAs, few astrocytomas and few DNTs. Except for one DA case, BRAF fusions (35 pediatric, 8 young adults and 2 adults) were restricted to PA and PMA and associated with age and infratentorial location. All mutations were mutually exclusive and always present in the primary tumor. Two-thirds of all pediatric samples harbored one of the three examined mutations.

Conclusion

Combination of IDH1-R132, BRAF V600 and KIAA1549–BRAF fusion analysis is therefore a useful tool to increase diagnostic accuracy in pediatric gliomas.

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Title: Analysis of IDH1-R132 mutation, BRAF V600 mutation and KIAA1549–BRAF fusion transcript status in central nervous system tumors supports pediatric tumor classification
Authors: Midea Gierke
Jan Sperveslage
David Schwab
Rudi Beschorner
Martin Ebinger
Martin U. Schuhmann
Jens Schittenhelm
Publication date: 01-01-2016
Publisher: Springer Berlin Heidelberg
Published in: Journal of Cancer Research and Clinical Oncology / Issue 1/2016
Print ISSN: 0171-5216
Electronic ISSN: 1432-1335
DOI: https://doi.org/10.1007/s00432-015-2006-2

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Analysis of IDH1-R132 mutation, BRAF V600 mutation and KIAA1549–BRAF fusion transcript status in central nervous system tumors supports pediatric tumor classification

Abstract

Objective

Methods

Results

Conclusion

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Abstract

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