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01-06-2018 | Brief Report

Molecular defects in BRAF wild-type ameloblastomas and craniopharyngiomas—differences in mutation profiles in epithelial-derived oropharyngeal neoplasms

Authors: Stephan Bartels, Akinyele Adisa, Timothy Aladelusi, Juliana Lemound, Angelika Stucki-Koch, Sami Hussein, Hans Kreipe, Christian Hartmann, Ulrich Lehmann, Kais Hussein

Published in: Virchows Archiv | Issue 6/2018

Abstract

The aim of this study was to evaluate the mutation profile of BRAF wild-type craniopharyngiomas and ameloblastomas. Pre-screening by immunohistochemistry and pyrosequencing for identifying BRAF wild-type tumors was performed on archived specimens of ameloblastic tumors (n = 20) and craniopharyngiomas (n = 62). Subsequently, 19 BRAF wild-type tumors (nine ameloblastic tumors and ten craniopharyngiomas) were analyzed further using next-generation sequencing (NGS) targeting hot spot mutations of 22 cancer-related genes. Thereby, we found craniopharyngiomas mainly CTNNB1 mutated (8/10), including two FGFR3/CTNNB1-double mutated tumors. Ameloblastic tumors were often FGFR2 mutated (4/9; including one FGFR2/TP53/PTEN-triple mutated case) and rarely CTNNB1/TP53-double mutated (1/9) and KRAS-mutated (1/9). In the remaining samples, no mutation could be detected in the 22 genes under investigation. In conclusion, mutation profiles of BRAF wild-type craniopharyngiomas and ameloblastomas share mutations of FGFR genes and have additional mutations with potential for targeted therapy.

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Title: Molecular defects in BRAF wild-type ameloblastomas and craniopharyngiomas—differences in mutation profiles in epithelial-derived oropharyngeal neoplasms
Authors: Stephan Bartels
Akinyele Adisa
Timothy Aladelusi
Juliana Lemound
Angelika Stucki-Koch
Sami Hussein
Hans Kreipe
Christian Hartmann
Ulrich Lehmann
Kais Hussein
Publication date: 01-06-2018
Publisher: Springer Berlin Heidelberg
Published in: Virchows Archiv / Issue 6/2018
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-018-2323-3

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Molecular defects in BRAF wild-type ameloblastomas and craniopharyngiomas—differences in mutation profiles in epithelial-derived oropharyngeal neoplasms

Abstract

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Abstract

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