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1型神经纤维瘤病患者的多形性胶质母细胞瘤:病例报告及文献复习

Glioblastoma multiforme in a patient with neurofibromatosis type 1: a case report and review of literature.

作者信息

Ayasa Laith A, Rahhal Sara, Najjar Alaa Khaled, Suboh Bashar N, Aliwaiai Mohammed, Daqour Ahmad M, Bakri Izzeddin

机构信息

Al Quds University Faculty of Medicine, Mount of Olives St. 26, Sheikh Jarrah, P.O. Box 22246, Jerusalem 91513, Palestine.

School of Medicine, The University of Jordan, Amman, Queen Rania St. Jubeiha, P.O. Box 11942, Amman, Jordan.

出版信息

J Surg Case Rep. 2024 Aug 28;2024(8):rjae517. doi: 10.1093/jscr/rjae517. eCollection 2024 Aug.

DOI:10.1093/jscr/rjae517
PMID:39211378
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11358049/
Abstract

Glioblastoma multiforme (GBM) is a highly aggressive brain tumor. Individuals with neurofibromatosis type 1 (NF1) have an increased risk of developing GBM. We present a case report of a 44-year-old male with NF1 who developed GBM. NF1-associated GBM presents distinct molecular features and younger age at diagnosis compared to sporadic cases. Treatment typically follows standard protocols for GBM. Despite advancements in neuro-oncology, gaps in knowledge persist regarding NF1-associated GBM, including its prevalence, molecular mechanisms, and optimal treatment strategies. Larger studies and collaborative efforts are needed to address these gaps and enhance patient care.

摘要

多形性胶质母细胞瘤(GBM)是一种高度侵袭性的脑肿瘤。患有1型神经纤维瘤病(NF1)的个体患GBM的风险增加。我们报告一例44岁患有NF1并发生GBM的男性病例。与散发性病例相比,NF1相关的GBM具有独特的分子特征且诊断时年龄较小。治疗通常遵循GBM的标准方案。尽管神经肿瘤学取得了进展,但关于NF1相关GBM的知识仍存在空白,包括其患病率、分子机制和最佳治疗策略。需要开展更大规模的研究和合作努力来填补这些空白并改善患者护理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf66/11358049/f99dd137a11f/rjae517f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf66/11358049/6dbb6a0bf061/rjae517f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf66/11358049/78100fe5857e/rjae517f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf66/11358049/773ede33418f/rjae517f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf66/11358049/f99dd137a11f/rjae517f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf66/11358049/6dbb6a0bf061/rjae517f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf66/11358049/78100fe5857e/rjae517f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf66/11358049/773ede33418f/rjae517f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf66/11358049/f99dd137a11f/rjae517f4.jpg

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本文引用的文献

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J Neurosurg Case Lessons. 2022 Jan 24;3(4). doi: 10.3171/CASE21630.
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Gene Alterations Define Specific Features of a Subset of Glioblastomas.基因突变定义了一部分胶质母细胞瘤的特定特征。
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Glioblastoma in a female neurofibromatosis 1 patient without IDH1, BRAF V600E, and TERT promoter mutations: A case report.女性神经纤维瘤病 1 型患者的胶质母细胞瘤,无 IDH1、BRAF V600E 和 TERT 启动子突变:病例报告。
Medicine (Baltimore). 2021 Apr 2;100(13):e25346. doi: 10.1097/MD.0000000000025346.
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Glioblastoma in adults with neurofibromatosis type I: A report of two cases.成人 I 型神经纤维瘤病合并胶质母细胞瘤:两例报告
Neuropathology. 2019 Oct;39(5):368-373. doi: 10.1111/neup.12579. Epub 2019 Aug 21.
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The molecular landscape of glioma in patients with Neurofibromatosis 1.神经纤维瘤病 1 型患者的胶质瘤分子图谱。
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Glioblastoma Multiforme, Diagnosis and Treatment; Recent Literature Review.多形性胶质母细胞瘤:诊断与治疗;近期文献综述
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Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.胶质瘤亚型的全基因组关联研究揭示了胶质母细胞瘤和非胶质母细胞瘤肿瘤在遗传易感性方面的特定差异。
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