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TERT promoter mutation and aberrant hypermethylation are associated with elevated expression in medulloblastoma and characterise the majority of non-infant SHH subgroup tumours.

作者信息

Lindsey Janet C, Schwalbe Ed C, Potluri Sandeep, Bailey Simon, Williamson Daniel, Clifford Steven C

机构信息

Northern Institute for Cancer Research, Newcastle University, Royal Victoria Infirmary, Newcastle upon Tyne, UK.

出版信息

Acta Neuropathol. 2014 Feb;127(2):307-9. doi: 10.1007/s00401-013-1225-3. Epub 2013 Dec 12.

DOI:10.1007/s00401-013-1225-3
PMID:24337442
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4313075/
Abstract
摘要

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TERT promoter mutation and aberrant hypermethylation are associated with elevated expression in medulloblastoma and characterise the majority of non-infant SHH subgroup tumours.端粒酶逆转录酶（TERT）启动子突变和异常高甲基化与髓母细胞瘤中表达升高相关，并是大多数非婴儿期 Sonic Hedgehog（SHH）亚组肿瘤的特征。
Acta Neuropathol. 2014 Feb;127(2):307-9. doi: 10.1007/s00401-013-1225-3. Epub 2013 Dec 12.
2
Telomere elongation via alternative lengthening of telomeres (ALT) and telomerase activation in primary metastatic medulloblastoma of childhood.儿童原发性转移性髓母细胞瘤中通过端粒酶激活和端粒延长的替代性端粒延长（ALT）。
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Lancet Oncol. 2017 Jul;18(7):958-971. doi: 10.1016/S1470-2045(17)30243-7. Epub 2017 May 22.
5
Human hedgehog interacting protein expression and promoter methylation in medulloblastoma cell lines and primary tumor samples.人 hedgehog 相互作用蛋白在髓母细胞瘤细胞系和原发肿瘤样本中的表达和启动子甲基化。
J Neurooncol. 2011 Jun;103(2):287-96. doi: 10.1007/s11060-010-0401-8. Epub 2010 Sep 19.
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TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma.TERT 启动子突变在 SHH 亚组髓母细胞瘤中高度复发。
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DNA-methylation profiling discloses significant advantages over NanoString method for molecular classification of medulloblastoma.DNA甲基化谱分析在髓母细胞瘤分子分类方面比NanoString方法具有显著优势。
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本文引用的文献

1
TERT promoter mutations rather than methylation are the main mechanism for TERT upregulation in adult gliomas.端粒酶逆转录酶（TERT）启动子突变而非甲基化是成人胶质瘤中端粒酶逆转录酶上调的主要机制。
Acta Neuropathol. 2013 Dec;126(6):939-41. doi: 10.1007/s00401-013-1203-9. Epub 2013 Oct 31.
2
TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma.TERT 启动子突变在 SHH 亚组髓母细胞瘤中高度复发。
Acta Neuropathol. 2013 Dec;126(6):917-29. doi: 10.1007/s00401-013-1198-2. Epub 2013 Oct 31.
3
Distribution of TERT promoter mutations in pediatric and adult tumors of the nervous system.
NAB2::STAT6 融合与全基因组 DNA 甲基化分析：脑膜孤立性纤维瘤患者预后的预测因子。
Brain Pathol. 2024 Nov;34(6):e13256. doi: 10.1111/bpa.13256. Epub 2024 Mar 24.
4
DNA Methylation and Histone Modification in Low-Grade Gliomas: Current Understanding and Potential Clinical Targets.低级别胶质瘤中的DNA甲基化与组蛋白修饰：当前认识与潜在临床靶点
Cancers (Basel). 2023 Feb 20;15(4):1342. doi: 10.3390/cancers15041342.
5
Genome wide DNA methylation analysis identifies novel molecular subgroups and predicts survival in neuroblastoma.全基因组 DNA 甲基化分析鉴定神经母细胞瘤的新分子亚群并预测生存。
Br J Cancer. 2022 Nov;127(11):2006-2015. doi: 10.1038/s41416-022-01988-z. Epub 2022 Sep 29.
6
Targeted Long-Read Bisulfite Sequencing Identifies Differences in the Promoter Methylation Profiles between Wild-Type and Mutant Cancer Cells.靶向长读长亚硫酸氢盐测序揭示野生型和突变型癌细胞启动子甲基化谱的差异
Cancers (Basel). 2022 Aug 19;14(16):4018. doi: 10.3390/cancers14164018.
7
Enhanced Survival of High-Risk Medulloblastoma-Bearing Mice after Multimodal Treatment with Radiotherapy, Decitabine, and Abacavir.多模态治疗（放疗、地西他滨、阿巴卡韦）改善高危髓母细胞瘤荷瘤小鼠的生存。
Int J Mol Sci. 2022 Mar 30;23(7):3815. doi: 10.3390/ijms23073815.
8
Genetic and Histopathological Heterogeneity of Neuroblastoma and Precision Therapeutic Approaches for Extremely Unfavorable Histology Subgroups.神经母细胞瘤的遗传和组织病理学异质性及极度不良组织学分组的精准治疗方法。
Biomolecules. 2022 Jan 5;12(1):79. doi: 10.3390/biom12010079.
9
Time, pattern, and outcome of medulloblastoma relapse and their association with tumour biology at diagnosis and therapy: a multicentre cohort study.时间、模式和髓母细胞瘤复发的结果及其与诊断和治疗时肿瘤生物学的关系：一项多中心队列研究。
Lancet Child Adolesc Health. 2020 Dec;4(12):865-874. doi: 10.1016/S2352-4642(20)30246-7. Epub 2020 Oct 22.
10
Clinical and mutational profiles of adult medulloblastoma groups.成人髓母细胞瘤各亚型的临床及突变特征。
Acta Neuropathol Commun. 2020 Nov 10;8(1):191. doi: 10.1186/s40478-020-01066-6.
TERT 启动子突变在儿童和成人神经系统肿瘤中的分布。
Acta Neuropathol. 2013 Dec;126(6):907-15. doi: 10.1007/s00401-013-1195-5. Epub 2013 Oct 24.
4
Robust molecular subgrouping and copy-number profiling of medulloblastoma from small amounts of archival tumour material using high-density DNA methylation arrays.利用高密度DNA甲基化阵列对少量存档肿瘤材料中的髓母细胞瘤进行稳健的分子亚组分析和拷贝数分析。
Acta Neuropathol. 2013 Jun;125(6):913-6. doi: 10.1007/s00401-013-1126-5. Epub 2013 May 14.
5
Methylation of the TERT promoter and risk stratification of childhood brain tumours: an integrative genomic and molecular study.TERT 启动子甲基化与儿童脑肿瘤的风险分层：一项综合基因组学和分子研究。
Lancet Oncol. 2013 May;14(6):534-42. doi: 10.1016/S1470-2045(13)70110-4. Epub 2013 Apr 16.
6
TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal.TERT 启动子突变在神经胶质瘤和一小部分源自自我更新率低的细胞的肿瘤中频繁发生。
Proc Natl Acad Sci U S A. 2013 Apr 9;110(15):6021-6. doi: 10.1073/pnas.1303607110. Epub 2013 Mar 25.
7
Highly recurrent TERT promoter mutations in human melanoma.人类黑色素瘤中高度复发的 TERT 启动子突变。
Science. 2013 Feb 22;339(6122):957-9. doi: 10.1126/science.1229259. Epub 2013 Jan 24.
8
DNA methylation profiling of medulloblastoma allows robust subclassification and improved outcome prediction using formalin-fixed biopsies.对髓母细胞瘤进行 DNA 甲基化分析可对其进行强有力的亚分类，并使用福尔马林固定的活检提高预后预测能力。
Acta Neuropathol. 2013 Mar;125(3):359-71. doi: 10.1007/s00401-012-1077-2. Epub 2013 Jan 5.
9
Medulloblastomics: the end of the beginning.髓母细胞瘤组学：开始的结束。
Nat Rev Cancer. 2012 Dec;12(12):818-34. doi: 10.1038/nrc3410.
10
Molecular subgroups of medulloblastoma: the current consensus.髓母细胞瘤的分子亚型：当前共识。
Acta Neuropathol. 2012 Apr;123(4):465-72. doi: 10.1007/s00401-011-0922-z. Epub 2011 Dec 2.