清晨好,您是今天最早来到科研通的研友!由于当前在线用户较少,发布求助请尽量完整地填写文献信息,科研通机器人24小时在线,伴您科研之路漫漫前行!

DNA methylation profiling of central nervous system hemangioblastomas identifies two distinct subgroups

DNA甲基化 中枢神经系统 仿形(计算机编程) 甲基化 生物 计算生物学 DNA 癌症研究 神经科学 遗传学 计算机科学 基因 操作系统 基因表达
作者
Niklas Woltering,Anne Albers,Michael Müther,Walter Stummer,Werner Paulus,Martin Hasselblatt,Markus Holling,Christian Thomas
出处
期刊:Brain Pathology [Wiley]
卷期号:32 (6) 被引量:4
标识
DOI:10.1111/bpa.13083
摘要

Abstract Hemangioblastomas (HBs) of the central nervous system are highly vascular neoplasms that occur sporadically or as a manifestation of von Hippel–Lindau (VHL) disease. Despite their benign nature, HBs are clinically heterogeneous and can be associated with significant morbidity due to mass effects of peritumoral cysts or tumor progression. Underlying molecular factors involved in HB tumor biology remain elusive. We investigated genome‐wide DNA methylation profiles and clinical and histopathological features in a series of 47 HBs from 42 patients, including 28 individuals with VHL disease. Thirty tumors occurred in the cerebellum, 8 in the brainstem and 8 HBs were of spinal location, while 1 HB was located in the cerebrum. Histologically, 12 HBs (26%) belonged to the cellular subtype and exclusively occurred in the cerebellum, whereas 35 HBs were reticular (74%). Unsupervised clustering and dimensionality reduction of DNA methylation profiles revealed two distinct subgroups. Methylation cluster 1 comprised 30 HBs of mainly cerebellar location (29/30, 97%), whereas methylation cluster 2 contained 17 HBs predominantly located in non‐cerebellar compartments (16/17, 94%). The sum of chromosomal regions being affected by copy‐number alterations was significantly higher in methylation cluster 1 compared to cluster 2 (mean 262 vs. 109 Mb, p = 0.001). Of note, loss of chromosome 6 occurred in 9/30 tumors (30%) of methylation cluster 1 and was not observed in cluster 2 tumors ( p = 0.01). No relevant methylation differences between sporadic and VHL‐related HBs or cystic and non‐cystic HBs could be detected. Deconvolution of the bulk DNA methylation profiles revealed four methylation components that were associated with the two methylation clusters suggesting cluster‐specific cell‐type compositions. In conclusion, methylation profiling of HBs reveals 2 distinct subgroups that mainly associate with anatomical location, cytogenetic profiles and differences in cell type composition, potentially reflecting different cells of origin.
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
PDF的下载单位、IP信息已删除 (2025-6-4)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
ys完成签到 ,获得积分10
4秒前
grace完成签到,获得积分10
8秒前
ll完成签到,获得积分20
16秒前
852应助ll采纳,获得10
21秒前
mojito完成签到 ,获得积分10
22秒前
muriel完成签到,获得积分10
47秒前
科研通AI2S应助科研通管家采纳,获得10
48秒前
奥利奥利奥完成签到 ,获得积分10
1分钟前
1分钟前
Dave发布了新的文献求助10
1分钟前
DouBo完成签到,获得积分10
1分钟前
Richardisme完成签到 ,获得积分10
2分钟前
qianchang完成签到,获得积分10
2分钟前
yuiop完成签到,获得积分10
2分钟前
liuyc完成签到 ,获得积分10
2分钟前
2分钟前
ll发布了新的文献求助10
2分钟前
糖果苏扬完成签到 ,获得积分10
2分钟前
科研通AI2S应助科研通管家采纳,获得10
2分钟前
zhang完成签到 ,获得积分10
3分钟前
蝴蝶完成签到 ,获得积分10
3分钟前
naczx完成签到,获得积分0
3分钟前
Dave发布了新的文献求助10
4分钟前
FashionBoy应助Dave采纳,获得10
4分钟前
yi完成签到,获得积分10
4分钟前
陈龙完成签到,获得积分10
5分钟前
rockyshi完成签到 ,获得积分10
5分钟前
刘刘完成签到 ,获得积分10
6分钟前
6分钟前
Dave发布了新的文献求助10
6分钟前
HCT完成签到,获得积分10
6分钟前
小象完成签到,获得积分10
6分钟前
6分钟前
在水一方应助Dave采纳,获得10
6分钟前
淡淡兔子完成签到 ,获得积分10
7分钟前
8分钟前
Dave发布了新的文献求助10
8分钟前
慕青应助科研通管家采纳,获得10
8分钟前
科研通AI2S应助科研通管家采纳,获得10
8分钟前
彦嘉完成签到,获得积分10
8分钟前
高分求助中
The Mother of All Tableaux: Order, Equivalence, and Geometry in the Large-scale Structure of Optimality Theory 3000
A new approach to the extrapolation of accelerated life test data 1000
ACSM’s Guidelines for Exercise Testing and Prescription, 12th edition 500
Indomethacinのヒトにおける経皮吸収 400
Phylogenetic study of the order Polydesmida (Myriapoda: Diplopoda) 370
基于可调谐半导体激光吸收光谱技术泄漏气体检测系统的研究 350
Robot-supported joining of reinforcement textiles with one-sided sewing heads 320
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 遗传学 基因 物理化学 催化作用 冶金 细胞生物学 免疫学
热门帖子
关注 科研通微信公众号,转发送积分 3990502
求助须知:如何正确求助?哪些是违规求助? 3532220
关于积分的说明 11256532
捐赠科研通 3271046
什么是DOI,文献DOI怎么找? 1805207
邀请新用户注册赠送积分活动 882302
科研通“疑难数据库(出版商)”最低求助积分说明 809234