用DNA甲基化和拷贝数变化对面骨中的纤维骨瘤进行分类
Tony G Kleijn1, Baptiste Ameline2, Willem H Schreuder3
1Department of Pathology and Medical Biology, University Medical Center Groningen, Groningen, the Netherlands.
概括
通过DNA甲基化和拷贝数分析,可以区分良性纤维骨瘤与面骨中的骨髓瘤. 这种分子方法有助于诊断具有类似临床特征的具有挑战性的病例.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 病理学 病理学 病理学
背景情况:
- 面骨的纤维骨瘤是一个多样化的群体,具有重叠的特征,需要准确的诊断.
- 现有的分子标记物有助于识别这些瘤的特定子集.
- 基因甲基化和拷贝数分析是中央神经系统瘤分类的已知工具.
研究的目的:
- 调查DNA甲基化和复制数分析对分类面纤维骨瘤的有用性.
- 确定这些分子技术是否能够区分各种良性纤维骨性病变和恶性骨髓瘤.
主要方法:
- 收集了多中心的头骨面部瘤队列,包括水泥骨性形 (COD),水泥骨化纤维瘤 (COF),青少年状骨化纤维瘤 (JTOF),psammomatoid骨化纤维瘤 (PsOF),纤维性形 (FD),低度骨肉瘤 (LGOS) 和高度骨肉瘤 (HGOS).
- 使用Illumina Infinium Methylation EPIC阵列生成全基因组DNA甲基化和副本数变异数据.
- 应用无监督的集群和缩小维度 (统一多边近似和投影) 进行数据分析.
主要成果:
- 通过DNA甲基化分析,成功分析了73/106种瘤.
- 无监督的聚类揭示了FD,外性PsOF和HGOS的不同组.
- COD,COF,JTOF和下PsOF形成了一个单独的集群,与其他面骨瘤不同.
- 副本数分析显示,良性瘤 (FD,COD,COF,JTOF,PsOF) 的平面概况与LGOS的增长和HGOS的多重变化相比.
结论:
- 通过DNA甲基化和拷贝数分析,可以有效地将良性纤维骨瘤与面骨中的低级和高级骨髓瘤分开.
- 这种分子方法为具有重叠临床病理特征的具有挑战性的病例提供了显著的诊断价值.
- 这些发现支持使用全面的分子分析来准确分类面骨瘤.
关键词:
通过DNA甲基化.骨硬化 - 骨发育不良症副本编号的修改 副本编号的修改头骨和面部骨头的骨头.纤维骨瘤是一个纤维骨瘤.纤维发育不良症 纤维发育不良症骨化纤维瘤的形成骨质肉瘤是骨质肉瘤的一种疾病.更多相关视频
10:27Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
Published on: July 25, 2020
7.2K
07:00Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas
Published on: February 28, 2019
5.8K
相关概念视频
01:37Epigenetic Regulation
3.0K
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
X-chromosome...
3.0K
01:33Cancer-Critical Genes I: Proto-oncogenes
8.7K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
8.7K