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Article: Genome-wide DNA methylation profiling as frontline diagnostics for central nervous system embryonal tumors in Hong Kong

TitleGenome-wide DNA methylation profiling as frontline diagnostics for central nervous system embryonal tumors in Hong Kong
Authors
Issue Date7-Oct-2023
PublisherMultidisciplinary Digital Publishing Institute (MDPI)
Citation
Cancers, 2023, v. 15, n. 19 How to Cite?
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.


Persistent Identifierhttp://hdl.handle.net/10722/338929
ISSN
2023 Impact Factor: 4.5
2023 SCImago Journal Rankings: 1.391

 

DC FieldValueLanguage
dc.contributor.authorTam, OCH-
dc.contributor.authorHo, RSL-
dc.contributor.authorChan, S-
dc.contributor.authorLi, KKW-
dc.contributor.authorLam, TL-
dc.contributor.authorCheung, ETY-
dc.contributor.authorCheung, OY-
dc.contributor.authorHo, WWS-
dc.contributor.authorCheng, KKF-
dc.contributor.authorShing, MMK-
dc.contributor.authorKu, DTL-
dc.contributor.authorChung, BHY-
dc.contributor.authorYang, W-
dc.contributor.authorChan, GCF-
dc.contributor.authorNg, HK-
dc.contributor.authorLiu, APY-
dc.date.accessioned2024-03-11T10:32:36Z-
dc.date.available2024-03-11T10:32:36Z-
dc.date.issued2023-10-07-
dc.identifier.citationCancers, 2023, v. 15, n. 19-
dc.identifier.issn2072-6694-
dc.identifier.urihttp://hdl.handle.net/10722/338929-
dc.description.abstract<p>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.</p>-
dc.languageeng-
dc.publisherMultidisciplinary Digital Publishing Institute (MDPI)-
dc.relation.ispartofCancers-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.titleGenome-wide DNA methylation profiling as frontline diagnostics for central nervous system embryonal tumors in Hong Kong-
dc.typeArticle-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.3390/cancers15194880-
dc.identifier.volume15-
dc.identifier.issue19-
dc.identifier.issnl2072-6694-

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