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 sy...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Karger Publishers
2025-01-01
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| Series: | Case Reports in Oncology |
| Online Access: | https://karger.com/article/doi/10.1159/000541677 |
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| Summary: | 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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| ISSN: | 1662-6575 |