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

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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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Funding

This study was funded by “Niedersächsische Krebsgesellschaft, e.V.” (Hannover, DE).

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Authors and Affiliations

  1. Institute of Pathology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany

    Stephan Bartels, Angelika Stucki-Koch, Hans Kreipe, Christian Hartmann, Ulrich Lehmann & Kais Hussein

  2. Oral Pathology Department University College Hospital Ibadan, University of Ibadan, Ibadan, Nigeria

    Akinyele Adisa

  3. Oral and Maxillofacial Surgery Department University College Hospital Ibadan, University of Ibadan, Ibadan, Nigeria

    Timothy Aladelusi

  4. Department of Cranio-Maxillofacial Surgery, Hannover Medical School, Hannover, Germany

    Juliana Lemound

  5. Department of Neurosurgery, Al-Makassed-Hospital, Al-Quds School of Medicine, Jerusalem, Israel

    Sami Hussein

  6. Department of Neuropathology, Hannover Medical School, Hannover, Germany

    Christian Hartmann

Authors
  1. Stephan Bartels
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  2. Akinyele Adisa
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  3. Timothy Aladelusi
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  4. Juliana Lemound
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  5. Angelika Stucki-Koch
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  6. Sami Hussein
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  7. Hans Kreipe
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  8. Christian Hartmann
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  9. Ulrich Lehmann
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  10. Kais Hussein
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Correspondence to Kais Hussein.

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The authors declare that they have no conflict of interest.

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Bartels, S., Adisa, A., Aladelusi, T. et al. Molecular defects in BRAF wild-type ameloblastomas and craniopharyngiomas—differences in mutation profiles in epithelial-derived oropharyngeal neoplasms. Virchows Arch 472, 1055–1059 (2018). https://doi.org/10.1007/s00428-018-2323-3

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  • DOI: https://doi.org/10.1007/s00428-018-2323-3

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