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73. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC)
Joint Meeting mit der Griechischen Gesellschaft für Neurochirurgie

Deutsche Gesellschaft für Neurochirurgie (DGNC) e. V.

29.05. - 01.06.2022, Köln

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Sporadic vestibular schwannomas with two somatic NF2 mutations in each – Which occurred first?

Sporadische Vestibularisschwannome mit zwei somatischen NF2 Mutationen – welche trat zuerst auf?

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  • presenting/speaker Maria Breun - Universitätsklinikum Würzburg, Klinik und Poliklinik für Neurochirurgie, Würzburg, Deutschland
  • Cordula Matthies - Universitätsklinikum Würzburg, Klinik und Poliklinik für Neurochirurgie, Würzburg, Deutschland
  • Lan Kluwe - Universitätsklinikum Hamburg-Eppendorf, Mund-Kiefer-Gesichtschirurgie, Hamburg, Deutschland

Deutsche Gesellschaft für Neurochirurgie. 73. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), Joint Meeting mit der Griechischen Gesellschaft für Neurochirurgie. Köln, 29.05.-01.06.2022. Düsseldorf: German Medical Science GMS Publishing House; 2022. DocP069

doi: 10.3205/22dgnc380, urn:nbn:de:0183-22dgnc3805

Published: May 25, 2022

© 2022 Breun et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 License. See license information at http://creativecommons.org/licenses/by/4.0/.

Outline

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Objective: The NF2 gene is a typical tumor suppressor gene and is biallelically inactivated in vestibular schwannomas, both NF2-associated and sporadic. For tumors with two minor intragenic inactivating NF2 mutations, an interesting issue is which one occurred first. We addressed this question by comparing the proportion of the mutation-bearing alleles in each tumor.

Methods: DNA was extracted from a total of 17 sporadic vestibular schwannomas and one NF2-associated tumor. Libraries for the illumine sequencer were prepared using primer panels for amplicons which cover all 16 NF2 exons without any gap. The coverage for the amplicons was between 100 and 4000.

Results: In 16 tumor samples, 21 mutations were detected. In three tumors, two truncating NF2 mutations were found. Interestingly, in each tumor, the two different truncating NF2 mutations were in very close proportions.

Conclusion: For this three sporadic vestibular schwannoma, the tumor development started after inactivation of both NF2 alleles. Since there is no substantial difference in the proportion of mutation-carrying alleles, these data do not deliver information for the time-sequential of the two mutation in each tumor.

Table 1 [Tab. 1]