Case Report: Somatic NF2 mutation in a vestibular schwannoma arising in a patient with neurofibromatosis type 1
This case demonstrates that a vestibular schwannoma arising in a patient with neurofibromatosis type 1 can be driven by secondary somatic NF2 alterations accompanied by loss of chromosome 22. Comprehensive multi-tissue genetic analysis enabled direct distinction between germline and tumor-specific events, highlighting the critical role of tumor-specific somatic alterations beyond the germline background.
Authors
- Yusuke Okuno (ORCID: https://orcid.org/0000-0003-3139-9272)
- Shigeki Yamada (ORCID: https://orcid.org/0000-0002-3891-1323)
- Ryota Fujinami
- Motoki Tanikawa (ORCID: https://orcid.org/0000-0001-9203-6016)
- Hiroshi Yamada (ORCID: https://orcid.org/0000-0001-6405-9341)
- Seiji Yamada (ORCID: https://orcid.org/0000-0002-9770-2425)
- Misa Shogaku
Institutions
- Fujita Health University (JP)
- Nagoya City University (JP)
Publication Details
- Journal
- Frontiers in Oncology
- Published
- 2026-02-26
- DOI
- https://doi.org/10.3389/fonc.2026.1769591
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Nagoya City University