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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.

DOI:10.1007/s00401-020-02144-8
PMID:
32157385
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7183424/
Abstract
摘要

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Acta Neuropathol. 2020 Apr;139(4):669-687. doi: 10.1007/s00401-019-02055-3. Epub 2019 Aug 30.
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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.
异柠檬酸脱氢酶（IDH）突变型星形细胞瘤的纵向分析揭示了与较差生存率相关的获得性RAS-丝裂原活化蛋白激酶（MAPK）通路突变。
Neurooncol Adv. 2025 Jan 29;7(1):vdaf024. doi: 10.1093/noajnl/vdaf024. eCollection 2025 Jan-Dec.
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Pediatric high-grade gliomas with concomitant RB1 and SETD2 alterations and Li-Fraumeni syndrome.伴有RB1和SETD2改变及李-弗劳梅尼综合征的儿童高级别胶质瘤
Acta Neuropathol Commun. 2025 Jan 16;13(1):8. doi: 10.1186/s40478-024-01885-x.
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Dual PTCH2 mutation [Ser391*, Leu104Pro]: unveiling a potential new genetic susceptibility factor for glioma development.双PTCH2突变[Ser391*，Leu104Pro]：揭示胶质瘤发生的一个潜在新遗传易感性因素。
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