The Role of SIX-EYA Complex in Branchiootorenal Syndrome and Glioblastoma: A Case Report and Review of Literature.

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Tác giả: Jacqueline Boyle, William Miller, Andrew Tsung

Ngôn ngữ: eng

Ký hiệu phân loại: 272.3 Persecutions of Waldenses and Albigenses

Thông tin xuất bản: Switzerland : Case reports in oncology , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 470536

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
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