A custom next-generation sequencing panel for 1p/19q codeletion and mutational analysis in gliomas
© The Author(s) 2024. Published by Oxford University Press on behalf of American Association of Neuropathologists, Inc. All rights reserved. For permissions, please email: journals.permissionsoup.com..
The World Health Organization has updated their classification system for the diagnosis of gliomas, combining histological features with molecular data including isocitrate dehydrogenase 1 and codeletion of chromosomal arms 1p and 19q. 1p/19q codeletion analysis is commonly performed by fluorescence in situ hybridization (FISH). In this study, we developed a 57-gene targeted next-generation sequencing (NGS) panel including 1p/19q codeletion detection mainly to assess diagnosis and potential treatment response in melanoma, gastrointestinal stromal tumor, and glioma patients. Loss of heterozygosity analysis was performed using the NGS method on 37 formalin-fixed paraffin-embedded glioma tissues that showed 1p and/or 19q loss determined by FISH. Conventional methods were applied for the validation of some glioma-related gene mutations. In 81.1% (30 of 37) and 94.6% (35 of 37) of cases, 1p and 19q were found to be in agreement whereas concordance for 1p/19q codeletion and no 1p/19q codeletion was found in 94.7% (18 of 19) and 94.4% (17 of 18) of cases, respectively. Overall, comparing NGS results with those of conventional methods showed high concordance. In conclusion, the NGS panel allows reliable analysis of 1p/19q codeletion and mutation at the same time.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:83 |
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| Enthalten in: |
Journal of neuropathology and experimental neurology - 83(2024), 4 vom: 20. März, Seite 258-267 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Qi, Peng [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 21.03.2024 Date Revised 17.04.2024 published: Print Citation Status MEDLINE |
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| doi: |
10.1093/jnen/nlae011 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 245 | 1 | 2 | |a A custom next-generation sequencing panel for 1p/19q codeletion and mutational analysis in gliomas |
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| 520 | |a © The Author(s) 2024. Published by Oxford University Press on behalf of American Association of Neuropathologists, Inc. All rights reserved. For permissions, please email: journals.permissionsoup.com. | ||
| 520 | |a The World Health Organization has updated their classification system for the diagnosis of gliomas, combining histological features with molecular data including isocitrate dehydrogenase 1 and codeletion of chromosomal arms 1p and 19q. 1p/19q codeletion analysis is commonly performed by fluorescence in situ hybridization (FISH). In this study, we developed a 57-gene targeted next-generation sequencing (NGS) panel including 1p/19q codeletion detection mainly to assess diagnosis and potential treatment response in melanoma, gastrointestinal stromal tumor, and glioma patients. Loss of heterozygosity analysis was performed using the NGS method on 37 formalin-fixed paraffin-embedded glioma tissues that showed 1p and/or 19q loss determined by FISH. Conventional methods were applied for the validation of some glioma-related gene mutations. In 81.1% (30 of 37) and 94.6% (35 of 37) of cases, 1p and 19q were found to be in agreement whereas concordance for 1p/19q codeletion and no 1p/19q codeletion was found in 94.7% (18 of 19) and 94.4% (17 of 18) of cases, respectively. Overall, comparing NGS results with those of conventional methods showed high concordance. In conclusion, the NGS panel allows reliable analysis of 1p/19q codeletion and mutation at the same time | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a 1p/19q | |
| 650 | 4 | |a Fluorescence in situ hybridization | |
| 650 | 4 | |a Glioma | |
| 650 | 4 | |a Loss of heterozygosity | |
| 650 | 4 | |a Molecular pathology | |
| 650 | 4 | |a Next-generation sequencing | |
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| 700 | 1 | |a Yao, Qian-Lan |e verfasserin |4 aut | |
| 700 | 1 | |a Lao, I Weng |e verfasserin |4 aut | |
| 700 | 1 | |a Ren, Min |e verfasserin |4 aut | |
| 700 | 1 | |a Bai, Qian-Ming |e verfasserin |4 aut | |
| 700 | 1 | |a Cai, Xu |e verfasserin |4 aut | |
| 700 | 1 | |a Xue, Tian |e verfasserin |4 aut | |
| 700 | 1 | |a Wei, Ran |e verfasserin |4 aut | |
| 700 | 1 | |a Zhou, Xiao-Yan |e verfasserin |4 aut | |
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