Supplementary Material for: The Role of SIX-EYA Complex in Branchiootorenal Syndrome and Glioblastoma: a case report and review of literature

Introduction We present the case of a 58-year-old female with Branchiootorenal (BOR) Syndrome who was diagnosed with glioblastoma (GBM). A relationship between BOR syndrome and GBM has not previously been reported, prompting a literature review into the underlying genomics of BOR syndrome and CNS glioma. Case Presentation The patient underwent craniotomy for resection with pathology demonstrating IDH-wildtype (WHO grade 4), MGMT-unmethylated glioblastoma. After outpatient discussion with oncology, the patient and her family elected not to pursue chemotherapy or radiation. Conclusion Literature review revealed common mutations to EYA and SIX genes, suggesting a possible unestablished relationship and future pathway for targeted treatments. Future studies should investigate the incidence of glioma in BOR patients with emphasis on genetic testing.