Genetic variants of targetable cancer-related genes in vestibular schwannomas

Abstract

Background: Vestibular schwannoma is an intracranial tumor which can lead to devastating neurological deficit and is prone to recurrence after surgery. Patients with inherited neurofibromatosis type 2 (NF2) syndrome are particularly susceptible to bilateral and aggressive schwannomas. However, the genome of vestibular schwannomas is not well known. There is an imminent need of developing effective chemotherapeutic agents either as a primary treatment modality or as adjuvant therapy for these patients. Methods: Here, we subjected both sporadic and NF2-related schwannomas to high-throughput DNA sequencing using a panel of therapeutically important cancer-related genes, in order to determine if targetable genetic changes are present in schwannomas. Results: A number of variants were detected in the genes NRAS, PDGFRA, KIT, and EGFR, in both sporadic and NF2-related cases. The results were confirmed by Sanger sequencing. Conclusion: Our study successfully detected some genetic variants in important cancer-related genes in schwannomas, and further elucidation of their relationship to drug-response will be pursued.