{"title":"The Role of SIX-EYA Complex in Branchiootorenal Syndrome and Glioblastoma: A Case Report and Review of Literature.","authors":"Jacqueline Boyle, William Miller, Andrew Tsung","doi":"10.1159/000541677","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>Literature review revealed common mutations to <i>EYA</i> and <i>SIX</i> 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.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"42-46"},"PeriodicalIF":0.7000,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11706612/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Oncology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000541677","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"ONCOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
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