Gliomas arising in the setting of Li-Fraumeni syndrome stratify into two molecular subgroups with divergent clinicopathologic features.
作者信息
Sloan Emily A, Hilz Stephanie, Gupta Rohit, Cadwell Cathryn, Ramani Biswarathan, Hofmann Jeffrey, Kline Cassie N, Banerjee Anu, Reddy Alyssa, Oberheim Bush Nancy Ann, Chang Susan, Braunstein Steve, Chang Edward F, Raffel Corey, Gupta Nalin, Sun Peter P, Kim John Y H, Moes Gregory, Alva Elizabeth, Li Rong, Bruggers Carol S, Alashari Mouied, Wetmore Cynthia, Garg Shipra, Dishop Megan, Van Ziffle Jessica, Onodera Courtney, Devine Patrick, Grenert James P, Lee Julieann C, Phillips Joanna J, Pekmezci Melike, Tihan Tarik, Bollen Andrew W, Berger Mitchel S, Costello Joseph F, Perry Arie, Solomon David A
机构信息
Department of Pathology, University of California, San Francisco, CA, USA.
Department of Neurological Surgery, University of California, San Francisco, CA, USA.
出版信息
Acta Neuropathol. 2020 May;139(5):953-957. doi: 10.1007/s00401-020-02144-8. Epub 2020 Mar 10.
Abstract
摘要
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Gliomas arising in the setting of Li-Fraumeni syndrome stratify into two molecular subgroups with divergent clinicopathologic features.在李-弗劳梅尼综合征背景下发生的胶质瘤可分为两个具有不同临床病理特征的分子亚组。
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本文引用的文献
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An update on the central nervous system manifestations of Li-Fraumeni syndrome.Li-Fraumeni 综合征中枢神经系统表现的最新进展。
Acta Neuropathol. 2020 Apr;139(4):669-687. doi: 10.1007/s00401-019-02055-3. Epub 2019 Aug 30.
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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。
Nat Med. 2019 Jan;25(1):176-187. doi: 10.1038/s41591-018-0263-8. Epub 2018 Dec 10.
3
Oligodendrogliomas, IDH-mutant and 1p/19q-codeleted, arising during teenage years often lack TERT promoter mutation that is typical of their adult counterparts.青少年时期发生的异柠檬酸脱氢酶（IDH）突变且1p/19q共缺失的少突胶质细胞瘤通常缺乏其成年对应肿瘤典型的端粒酶逆转录酶（TERT）启动子突变。
Acta Neuropathol Commun. 2018 Sep 19;6(1):95. doi: 10.1186/s40478-018-0598-x.
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The genetic landscape of gliomas arising after therapeutic radiation.治疗性放疗后发生的神经胶质瘤的遗传特征。
Acta Neuropathol. 2019 Jan;137(1):139-150. doi: 10.1007/s00401-018-1906-z. Epub 2018 Sep 8.
5
The genetic landscape of ganglioglioma.神经节神经胶质瘤的遗传特征。
Acta Neuropathol Commun. 2018 Jun 7;6(1):47. doi: 10.1186/s40478-018-0551-z.
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Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.髓母细胞瘤的遗传易感性的谱和流行率：一项回顾性遗传学研究和临床试验队列的前瞻性验证。
Lancet Oncol. 2018 Jun;19(6):785-798. doi: 10.1016/S1470-2045(18)30242-0. Epub 2018 May 9.
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Genomic analysis of the origins and evolution of multicentric diffuse lower-grade gliomas.多中心弥漫性低级别胶质瘤的起源和演化的基因组分析。
Neuro Oncol. 2018 Apr 9;20(5):632-641. doi: 10.1093/neuonc/nox205.
8
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.Li-Fraumeni 综合征患者的癌症筛查建议。
Clin Cancer Res. 2017 Jun 1;23(11):e38-e45. doi: 10.1158/1078-0432.CCR-17-0408.
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Targeted next-generation sequencing of pediatric neuro-oncology patients improves diagnosis, identifies pathogenic germline mutations, and directs targeted therapy.对儿科神经肿瘤患者进行靶向二代测序可改善诊断、识别致病性种系突变并指导靶向治疗。
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Acta Neuropathol. 2016 Jul;132(1):153-5. doi: 10.1007/s00401-016-1579-4. Epub 2016 May 9.
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