6 - eya复合物在鳃裂肾综合征和胶质母细胞瘤中的作用:1例报告及文献复习。

IF 0.7 Q4 ONCOLOGY
Case Reports in Oncology Pub Date : 2025-01-07 eCollection Date: 2025-01-01 DOI:10.1159/000541677
Jacqueline Boyle, William Miller, Andrew Tsung
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引用次数: 0

摘要

简介:我们提出一个58岁的女性与Branchiootorenal (BOR)综合征谁被诊断为胶质母细胞瘤(GBM)的情况。BOR综合征和GBM之间的关系以前没有报道,促使文献综述对BOR综合征和中枢神经胶质瘤的潜在基因组学进行研究。病例介绍:患者开颅切除,病理显示为idh野生型(WHO分级4级),mgmt -未甲基化胶质母细胞瘤。在门诊与肿瘤科医生讨论后,病人和她的家人决定不继续化疗或放疗。结论:文献回顾揭示了EYA和SIX基因的共同突变,提示了可能的未确定关系和靶向治疗的未来途径。未来的研究应调查脑胶质瘤在脑卒中患者中的发病率,并强调基因检测。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

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来源期刊
CiteScore
1.40
自引率
12.50%
发文量
151
审稿时长
7 weeks
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