Abstract
Purpose
Neurofibromatosis type 2 (NF2) is intractable because of multiple tumors involving the nervous system and is clinically diverse and genotype-dependent. Stereotactic radiosurgery (SRS) for NF2-associated schwannomas remains controversial. We aimed to investigate the association between radiosurgical outcomes and mutation types in NF2-associated schwannomas.
Methods
This single-institute retrospective study included consecutive NF2 patients with intracranial schwannomas treated with SRS. The patients’ types of germline mutations (“Truncating,” “Large deletion,” “Splice site,” “Missense,” and “Mosaic”) and Halliday’s genetic severity scores were examined, and the associations with progression-free rate (PFR) and overall survival (OS) were analyzed.
Results
The study enrolled 14 patients with NF2 with 22 associated intracranial schwannomas (median follow-up, 102 months). The PFRs in the entire cohort were 95% at 5 years and 90% at 10–20 years. The PFRs tended to be worse in patients with truncating mutation exons 2–13 than in those with other mutation types (91% at 5 years and 82% at 10–20 years vs. 100% at 10–20 years, P = 0.140). The OSs were 89% for patients aged 40 years and 74% for those aged 60 years in the entire cohort and significantly lower in genetic severity group 3 than in the other groups (100% vs. 50% for those aged 35 years; P = 0.016).
Conclusion
SRS achieved excellent PFR for NF2-associated intracranial schwannomas in the mild (group 2A) and moderate (group 2B) groups. SRS necessitates careful consideration for the severe group (group 3), especially in cases with NF2 truncating mutation exons 2–13.
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Abbreviations
- CT:
-
computed tomography
- CTCAE:
-
Common Terminology Criteria for Adverse Events
- MRI:
-
magnetic resonance imaging.
- NF2:
-
neurofibromatosis type 2
- OS:
-
overall survival
- PFR:
-
progression-free rate
- RAEs:
-
radiation adverse events
- SRS:
-
stereotactic radiosurgery
- VEGF:
-
vascular endothelial growth factor
- VS:
-
vestibular schwannomas
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Acknowledgements
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Funding
This work was supported by JSPS KAKENHI [Grant numbers 21H03041 to Dr Saito, 23H03018 to Dr Miyawaki, 20K17919 to Dr Shinya, 19K24023 and 20K17954 to Dr Teranishi]. This study was also supported by grants from the Takeda Science Foundation awarded to Dr Miyawaki.
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All authors contributed to the study conception and design. Material preparation, data collection and analysis were performed by Y.S., Y.T., H.H., T.S., M.K., and M.U. The first draft of the manuscript was written by Y.S. and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.
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11060_2023_4530_MOESM2_ESM.tiff
Supplementary Figure. Kaplan–Meier curve for hearing preservation rate after stereotactic radiosurgery in patients with serviceable hearing. SRS, stereotactic radiosurgery.
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Shinya, Y., Teranishi, Y., Hasegawa, H. et al. Long-term outcomes of stereotactic radiosurgery for intracranial schwannoma in neurofibromatosis type 2: a genetic analysis perspective. J Neurooncol 166, 185–194 (2024). https://doi.org/10.1007/s11060-023-04530-0
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DOI: https://doi.org/10.1007/s11060-023-04530-0