多形性胶质母细胞瘤的 Li-Fraumeni 综合征癌症监测策略考虑因素

An-Phuc Ta, Megan Hsu, Satori Iwamoto
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引用次数: 0

摘要

肿瘤抑制因子 P53 的产生或活性的零星或遗传性缺陷会导致 Li-Fraumeni 综合征(LFS),这是一种多器官肿瘤性疾病。多形性胶质母细胞瘤(GBM)是一种常见的中位年龄为 64 岁的肿瘤,但在更年轻的 LFS 患者中出现的几率更高[9]。自 2016 年《多伦多协议》实施以加强对 LFS 患者的癌症监测以来,已有三例 LFS-GBM 病例被讨论[11-13]。在此,我们报告了一例 18 岁男性的 LFS 病例,他在 6 个月前因逃避全身 MRI 检查的 GBM 而导致癫痫发作。此外,我们还讨论了为患者提供更短的脑磁共振成像筛查间隔可能带来的生活质量(QOL)益处:更好的生存结果和安心。虽然随着核磁共振成像扫描次数的增加,经济成本可能会增加,但侵袭性肿瘤的发病率很高,必须及早治疗才能获得更好的预后,因此需要更频繁地进行筛查。此外,我们还探讨了在 LFS 环境中扩大 GBM 临床知识的重要性,并通过统计研究来探讨该方案的益处。
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Li-Fraumeni Syndrome Cancer Surveillance Strategy Considerations for Glioblastoma Multiforme
Sporadic or inherited deficiencies in the production or activity of the tumor suppressor P53 lead to Li-Fraumeni Syndrome (LFS), a multi-organ tumorigenic condition. Glioblastoma multiforme (GBM), a tumor that commonly presents with a median age of 64, has a higher chance of appearing in much younger patients who have LFS [9]. Since the implementation of the 2016 Toronto Protocol to increase cancer surveillance in LFS patients, three cases of LFS-GBM have been discussed [11-13]. Here, we report a case of LFS in an 18-year-old male who had a seizure due to a GBM that had evaded a full-body MRI six months prior. Furthermore, we discuss the potential quality of life (QOL) benefits of providing patients with a shorter brain MRI screening interval: better survival outcomes and peace of mind. Though there may be a rise in the financial cost with an increase in the number of MRI scans, the prevalence of aggressive tumors that must be treated early for a better prognosis warrants more frequent screening. Furthermore, we address the importance of expanding clinical knowledge on GBM in the LFS setting as well as addressing the benefits of the protocol through statistical studies.
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