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Virchows Arch. 2018 Jun;472(6):1055-1059. doi: 10.1007/s00428-018-2323-3. Epub 2018 Mar 15.

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

Author information

1
Institute of Pathology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
2
Oral Pathology Department University College Hospital Ibadan, University of Ibadan, Ibadan, Nigeria.
3
Oral and Maxillofacial Surgery Department University College Hospital Ibadan, University of Ibadan, Ibadan, Nigeria.
4
Department of Cranio-Maxillofacial Surgery, Hannover Medical School, Hannover, Germany.
5
Department of Neurosurgery, Al-Makassed-Hospital, Al-Quds School of Medicine, Jerusalem, Israel.
6
Department of Neuropathology, Hannover Medical School, Hannover, Germany.
7
Institute of Pathology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany. hussein.kais@mh-hannover.de.

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.

KEYWORDS:

Ameloblastic carcinoma; Ameloblastoma; BRAF; CTNNB1, FGFR; Craniopharyngioma

PMID:
29546640
DOI:
10.1007/s00428-018-2323-3
[Indexed for MEDLINE]

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