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全基因组DNA甲基化分析作为香港中枢神经系统胚胎性肿瘤的一线诊断方法

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

作者信息

Tam Otto C H, Ho Ronnie S L, Chan Shing, Li Kay K W, Lam Tit-Leung, Cheung Elaine T Y, Cheung Oi-Yee, Ho Wilson W S, Cheng Kevin K F, Shing Matthew M K, Ku Dennis T L, Chung Brian H Y, Yang Wanling, Chan Godfrey C F, Ng Ho-Keung, Liu Anthony P Y

机构信息

Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong.

Department of Pathology, Gleneagles Hospital, Wong Chuk Hang, Hong Kong.

出版信息

Cancers (Basel). 2023 Oct 7;15(19):4880. doi: 10.3390/cancers15194880.

DOI:10.3390/cancers15194880
PMID:37835574
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10571663/
Abstract

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

本文探讨了中枢神经系统（CNS）肿瘤生物学与异质性之间的联系，以及全基因组DNA甲基化谱作为临床诊断平台的应用。中枢神经系统肿瘤是儿童最常见的实体瘤，其预后仍然很差。本研究回顾性分析了1999年至2017年香港中枢神经系统胚胎性肿瘤的儿科患者，使用了全港登记处的数据和现有的福尔马林固定石蜡包埋肿瘤组织。通过DNA提取、定量和甲基化谱分析对存档肿瘤组织进行处理后，使用基于网络的DKFZ分类器（分子神经病理学（MNP）2.0 v11b4）和t-SNE分析对数据进行分析。85个样本的甲基化谱被认为具有信息价值。表观遗传数据允许对65个样本进行分子亚组分析并确诊，对8个样本的组织学诊断进行了验证，对12个样本提出了替代诊断。本研究证明了DNA甲基化谱在表征来自香港的一大群儿科中枢神经系统胚胎性肿瘤中的潜力，这将有助于未来儿科神经肿瘤学研究中的区域和国际合作。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aca1/10571663/f9b4035bfa2f/cancers-15-04880-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aca1/10571663/a6efda75ec88/cancers-15-04880-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aca1/10571663/7fcdeac3f07e/cancers-15-04880-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aca1/10571663/f6eb39ce7cc4/cancers-15-04880-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aca1/10571663/45977f8f43eb/cancers-15-04880-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aca1/10571663/97a4d115530b/cancers-15-04880-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aca1/10571663/f9b4035bfa2f/cancers-15-04880-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aca1/10571663/a6efda75ec88/cancers-15-04880-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aca1/10571663/7fcdeac3f07e/cancers-15-04880-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aca1/10571663/f6eb39ce7cc4/cancers-15-04880-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aca1/10571663/45977f8f43eb/cancers-15-04880-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aca1/10571663/97a4d115530b/cancers-15-04880-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aca1/10571663/f9b4035bfa2f/cancers-15-04880-g006.jpg

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Neuropathol Appl Neurobiol. 2022 Oct;48(6):e12838. doi: 10.1111/nan.12838. Epub 2022 Aug 3.
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Updates in the classification of ependymal neoplasms: The 2021 WHO Classification and beyond.室管膜肿瘤分类的更新：2021 年 WHO 分类及以后。
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Expanding the clinical and molecular spectrum of pituitary blastoma.
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Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer.全基因组、转录组和甲基组谱分析可提高高危儿科癌症的可操作靶点发现。
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