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CDKN2A/B mutations and allele-specific alterations stratify survival outcomes in IDH-mutant astrocytomas.

作者信息

Hickman Richard A, Gedvilaite Erika, Ptashkin Ryan, Reiner Anne S, Cimera Robert, Nandakumar Subhiksha, Price Adam, Vanderbilt Chad, Fahy Tara, Young Robert J, Miller Alexandra M, Mellinghoff Ingo K, Rosenblum Marc K, Ladanyi Marc, Arcila Maria E, Zhang Yanming, Brannon A Rose, Bale Tejus A

机构信息

Human Oncology and Pathogenesis Program, Sloan Kettering Institute, New York, NY, 10065, USA.

Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.

出版信息

Acta Neuropathol. 2023 Dec;146(6):845-847. doi: 10.1007/s00401-023-02639-0. Epub 2023 Oct 13.

DOI:10.1007/s00401-023-02639-0
PMID:37831210
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10628020/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/963d/10628020/fbcf66288fc6/401_2023_2639_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/963d/10628020/fbcf66288fc6/401_2023_2639_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/963d/10628020/fbcf66288fc6/401_2023_2639_Fig1_HTML.jpg

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CDKN2A/B mutations and allele-specific alterations stratify survival outcomes in IDH-mutant astrocytomas.CDKN2A/B突变和等位基因特异性改变可对异柠檬酸脱氢酶（IDH）突变型星形细胞瘤的生存结果进行分层。
Acta Neuropathol. 2023 Dec;146(6):845-847. doi: 10.1007/s00401-023-02639-0. Epub 2023 Oct 13.
2
IDH mutant lower grade (WHO Grades II/III) astrocytomas can be stratified for risk by CDKN2A, CDK4 and PDGFRA copy number alterations.IDH 突变型低级别（WHO 分级 II/III）星形细胞瘤可通过 CDKN2A、CDK4 和 PDGFRA 拷贝数改变进行风险分层。
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Neurooncol Adv. 2025 Apr 28;7(1):vdaf088. doi: 10.1093/noajnl/vdaf088. eCollection 2025 Jan-Dec.
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Acta Neuropathol Commun. 2024 Nov 26;12(1):180. doi: 10.1186/s40478-024-01889-7.
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Canonical amplifications and CDKN2A/B loss refine IDH1/2-mutant astrocytoma prognosis.

本文引用的文献

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Hemizygous CDKN2A deletion confers worse survival outcomes in IDHmut-noncodel gliomas.半合子CDKN2A缺失在异柠檬酸脱氢酶（IDH）突变型非编码胶质瘤中导致更差的生存结果。
Neuro Oncol. 2023 Sep 5;25(9):1721-1723. doi: 10.1093/neuonc/noad095.
2
Vorasidenib in IDH1- or IDH2-Mutant Low-Grade Glioma.沃拉西尼布治疗 IDH1 或 IDH2 突变型低级别胶质瘤。
N Engl J Med. 2023 Aug 17;389(7):589-601. doi: 10.1056/NEJMoa2304194. Epub 2023 Jun 4.
3
CDKN2A homozygous deletion is a strong adverse prognosis factor in diffuse malignant IDH-mutant gliomas.
典型扩增和CDKN2A/B缺失改善IDH1/2突变型星形细胞瘤的预后。
Neuro Oncol. 2025 May 15;27(4):993-1003. doi: 10.1093/neuonc/noae258.
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The prognostic impact of CDKN2A/B hemizygous deletions in IDH-mutant glioma.CDKN2A/B半合子缺失在异柠檬酸脱氢酶（IDH）突变型胶质瘤中的预后影响
Neuro Oncol. 2025 Mar 7;27(3):743-754. doi: 10.1093/neuonc/noae238.
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Consensus recommendations for an integrated diagnostic approach to peripheral nerve sheath tumors arising in the setting of Neurofibromatosis Type 1.1型神经纤维瘤病相关外周神经鞘瘤综合诊断方法的共识性建议
Neuro Oncol. 2025 Mar 7;27(3):616-624. doi: 10.1093/neuonc/noae235.
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A multi-center, clinical analysis of IDH-mutant gliomas, WHO Grade 4: implications for prognosis and clinical trial design.一项关于异柠檬酸脱氢酶（IDH）突变型4级胶质瘤的多中心临床分析：对预后和临床试验设计的意义
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Int J Mol Sci. 2024 Sep 8;25(17):9714. doi: 10.3390/ijms25179714.
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Hemizygous deletion of cyclin-dependent kinase inhibitor 2A/B with p16 immuno-negative and methylthioadenosine phosphorylase retention predicts poor prognosis in IDH-mutant adult glioma.细胞周期蛋白依赖性激酶抑制剂2A/B的半合子缺失伴p16免疫阴性和甲硫腺苷磷酸化酶保留预示着异柠檬酸脱氢酶（IDH）突变型成人胶质瘤的预后不良。
Neurooncol Adv. 2024 May 8;6(1):vdae069. doi: 10.1093/noajnl/vdae069. eCollection 2024 Jan-Dec.
9
Genetic and epigenetic instability as an underlying driver of progression and aggressive behavior in IDH-mutant astrocytoma.遗传和表观遗传不稳定性是 IDH 突变型星形细胞瘤进展和侵袭性行为的潜在驱动因素。
Acta Neuropathol. 2024 Jul 16;148(1):5. doi: 10.1007/s00401-024-02761-7.
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The biological significance of tumor grade, age, enhancement, and extent of resection in IDH-mutant gliomas: How should they inform treatment decisions in the era of IDH inhibitors?IDH 突变型胶质瘤中肿瘤分级、年龄、强化和切除程度的生物学意义：在 IDH 抑制剂时代，它们应如何影响治疗决策？
Neuro Oncol. 2024 Oct 3;26(10):1805-1822. doi: 10.1093/neuonc/noae107.
CDKN2A 纯合缺失是弥漫性恶性 IDH 突变型神经胶质瘤的一个强烈不良预后因素。
Neuro Oncol. 2019 Dec 17;21(12):1519-1528. doi: 10.1093/neuonc/noz124.
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Novel, improved grading system(s) for IDH-mutant astrocytic gliomas.新型改良的 IDH 突变型星形细胞瘤分级系统。
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OncoKB: A Precision Oncology Knowledge Base.OncoKB：一个精准肿瘤知识库。
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Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients.从10000例患者的前瞻性临床测序中揭示的转移性癌症的突变图谱。
Nat Med. 2017 Jun;23(6):703-713. doi: 10.1038/nm.4333. Epub 2017 May 8.
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FACETS: allele-specific copy number and clonal heterogeneity analysis tool for high-throughput DNA sequencing.FACETS：用于高通量DNA测序的等位基因特异性拷贝数和克隆异质性分析工具。
Nucleic Acids Res. 2016 Sep 19;44(16):e131. doi: 10.1093/nar/gkw520. Epub 2016 Jun 7.
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CDKN2A loss is associated with shortened overall survival in lower-grade (World Health Organization Grades II-III) astrocytomas.在低级别（世界卫生组织II - III级）星形细胞瘤中，CDKN2A缺失与总生存期缩短相关。
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Continuous growth of mean tumor diameter in a subset of grade II gliomas.一部分二级胶质瘤的平均肿瘤直径持续增长。
Ann Neurol. 2003 Apr;53(4):524-8. doi: 10.1002/ana.10528.
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Detection of p16, RB, CDK4, and p53 gene deletion and amplification by fluorescence in situ hybridization in 96 gliomas.采用荧光原位杂交技术检测96例胶质瘤中p16、RB、CDK4和p53基因的缺失与扩增情况。
Am J Clin Pathol. 1999 Dec;112(6):801-9. doi: 10.1093/ajcp/112.6.801.