文章：

全基因组DNA甲基化谱分析作为香港中枢神经系统胚胎性肿瘤的前线诊断方法

Genome-Wide DNA Methylation Profiling as Frontline Diagnostics for Central Nervous System Embryonal Tumors in Hong Kong

原文发布日期：7 October 2023

DOI: 10.3390/cancers15194880

类型: Article

开放获取: 是

英文摘要：

This paper examines the link between CNS tumor biology and heterogeneity and the use of genome-wide DNA methylation profiling as a clinical diagnostic platform. CNS tumors are the most common solid tumors in children, and their prognosis remains poor. This study retrospectively analyzed pediatric patients with CNS embryonal tumors in Hong Kong between 1999 and 2017, using data from the territory-wide registry and available formalin-fixed paraffin-embedded tumor tissue. After processing archival tumor tissue via DNA extraction, quantification, and methylation profiling, the data were analyzed by using the web-based DKFZ classifier (Molecular Neuropathology (MNP) 2.0 v11b4) and t-SNE analysis. Methylation profiles were deemed informative in 85 samples. Epigenetic data allowed molecular subgrouping and confirmed diagnosis in 65 samples, verified histologic diagnosis in 8, and suggested an alternative diagnosis in 12. This study demonstrates the potential of DNA methylation profiling in characterizing pediatric CNS embryonal tumors in a large cohort from Hong Kong, which should enable regional and international collaboration in future pediatric neuro-oncology research.

摘要翻译： 

本研究探讨了中枢神经系统肿瘤生物学特性与异质性之间的关系，以及全基因组DNA甲基化分析作为临床诊断平台的应用价值。中枢神经系统肿瘤是儿童最常见的实体肿瘤，其预后仍然较差。本研究回顾性分析了1999年至2017年间香港儿童中枢神经系统胚胎性肿瘤患者，利用全港登记数据及可获取的福尔马林固定石蜡包埋肿瘤组织样本。通过对存档肿瘤组织进行DNA提取、定量及甲基化分析，使用基于网络的DKFZ分类器（分子神经病理学2.0 v11b4版）和t-SNE分析方法处理数据。在85例样本中获得具有诊断价值的甲基化谱，其中65例通过表观遗传数据实现分子亚群分型并确诊，8例验证了组织学诊断，12例提示了替代诊断可能。本研究证实了DNA甲基化分析技术在表征香港地区大规模儿童中枢神经系统胚胎性肿瘤队列中的潜力，这将有助于推动未来儿童神经肿瘤学研究的区域与国际合作。

原文链接：

Genome-Wide DNA Methylation Profiling as Frontline Diagnostics for Central Nervous System Embryonal Tumors in Hong Kong