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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| Format: | Article |
| Language: | English |
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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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| _version_ | 1850133662812602368 |
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| author | Jacqueline Boyle William Miller Andrew Tsung |
| author_facet | Jacqueline Boyle William Miller Andrew Tsung |
| author_sort | Jacqueline Boyle |
| collection | DOAJ |
| description |
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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| format | Article |
| id | doaj-art-3a2fd4e678e14752b40354e1aa7a37a6 |
| institution | OA Journals |
| issn | 1662-6575 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Oncology |
| spelling | doaj-art-3a2fd4e678e14752b40354e1aa7a37a62025-08-20T02:31:55ZengKarger PublishersCase Reports in Oncology1662-65752025-01-01181424610.1159/000541677The Role of SIX-EYA Complex in Branchiootorenal Syndrome and Glioblastoma: A Case Report and Review of LiteratureJacqueline BoyleWilliam MillerAndrew Tsung 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. https://karger.com/article/doi/10.1159/000541677 |
| spellingShingle | Jacqueline Boyle William Miller Andrew Tsung The Role of SIX-EYA Complex in Branchiootorenal Syndrome and Glioblastoma: A Case Report and Review of Literature Case Reports in Oncology |
| title | The Role of SIX-EYA Complex in Branchiootorenal Syndrome and Glioblastoma: A Case Report and Review of Literature |
| title_full | The Role of SIX-EYA Complex in Branchiootorenal Syndrome and Glioblastoma: A Case Report and Review of Literature |
| title_fullStr | The Role of SIX-EYA Complex in Branchiootorenal Syndrome and Glioblastoma: A Case Report and Review of Literature |
| title_full_unstemmed | The Role of SIX-EYA Complex in Branchiootorenal Syndrome and Glioblastoma: A Case Report and Review of Literature |
| title_short | The Role of SIX-EYA Complex in Branchiootorenal Syndrome and Glioblastoma: A Case Report and Review of Literature |
| title_sort | role of six eya complex in branchiootorenal syndrome and glioblastoma a case report and review of literature |
| url | https://karger.com/article/doi/10.1159/000541677 |
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