Skip to main content
AAO-HNSF 2023 Annual Meeting & OTO Experience Main banner
Icon Legend
This session is not in your schedule.
This session is in your schedule. Click again to remove it.
Back
Rate ePoster

Otology/Neurotology

(213) Genome-wide Analysis of Sporadic Vestibular Schwannomas: Is Medical Management Possible?

Monday, October 2, 2023
2:45 PM – 3:45 PM East Coast USA Time
Has Audio

    Presenting Author(s)

  • Sophia Angelo, BS

    Medical Student
    University of Connecticut School of Medicine
    Farmington, Connecticut, United States

    • Senior Author(s)

  • Daniel S. Roberts, MD, PhD

    Clinical Fellow
    University of Connecticut Health Center
    Pasadena, California, USA

  • KB

    Ketan Bulsara, MD, MBA

    University of Connecticut Health Center, USA

    • Co-Author(s)

  • MP

    Mitch Paro, BA

    University of Connecticut School of Medicine, USA

  • SX

    Summer Xu, BS

    Medical student
    University of Connecticut School of Medicine
    Farmington, Connecticut, United States

  • SF

    Samantha Frank, MD

    Resident Physician
    University of Connecticut Health Center
    Farmington, Connecticut, United States

Disclosure(s):
Sophia Angelo, BS: No relevant relationships to disclose.
Summer Xu, BS: No relevant relationships to disclose.
Samantha Frank, MD: No relevant relationships to disclose.


Introduction: Vestibular schwannomas (VS) are often caused by mutations in the neurofibromatosis type 2 (NF2) gene. The standard of care for VS includes surgical resection and/or stereotactic radiosurgery, which both carry risks. We performed targeted genomic analysis on sporadic, unilateral VS in a single-institution series to understand if there are plausible medical therapies for VS based on genome sequencing data.

Methods: Tissue samples of VS resected at our institution between 2017-2021 were analyzed for cancer-related genes and clinically-significant variants at the Jackson Laboratory (JAX) using a targeted-enrichment sequencing assay. Evidence of association between genomic variants and potential therapeutic outcomes was obtained from peer-reviewed literature, clinical practice guidelines, FDA labels, publicly available databases, and the JAX Clinical Knowledgebase.

Results: Eight VS were sequenced. Seven patients had at least one genomic variant of the NF2 gene. There were also variants in the RAD51, CHEK2, NBN, and BRCA2 genes. Potential FDA-approved medical therapies based on these variants included multikinase inhibitors, RTK inhibitors, MEK inhibitors, mTOR inhibitors, anti-PD-1 monoclonal antibodies, anti-PD-L1 monoclonal antibodies, and PARP inhibitors.

Conclusions: Targeted-enrichment sequencing holds promise as a tool for personalizing the medical management of VS. While surgery or stereotactic radiosurgery are efficacious and the standard of care, we predict that genomic analysis after resection will have a future role in management of VS.