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A glioneuronal tumor with CLIP2-MET fusion

We report a case of glioneuronal tumor (GNT) with a discovery of novel gene fusion of CLIP2-MET resulting from aberrant chromosome 7 abnormalities. We executed an elaborate genomic study on this case including whole-exome sequencing and RNA sequencing. Genomic analysis of the tumor revealed aberrati...

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Autores principales: Chowdhury, Tamrin, Lee, Yeajina, Kim, Sojin, Yu, Hyeon Jong, Ji, So Young, Bae, Jeong Mo, Won, Jae Kyung, Shin, Joo Heon, Weinberger, Daniel R., Choi, Seung Hong, Park, Chul-Kee, Kim, Jong-Il, Park, Sung-Hye
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7270112/
https://www.ncbi.nlm.nih.gov/pubmed/32550005
http://dx.doi.org/10.1038/s41525-020-0131-6
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author Chowdhury, Tamrin
Lee, Yeajina
Kim, Sojin
Yu, Hyeon Jong
Ji, So Young
Bae, Jeong Mo
Won, Jae Kyung
Shin, Joo Heon
Weinberger, Daniel R.
Choi, Seung Hong
Park, Chul-Kee
Kim, Jong-Il
Park, Sung-Hye
author_facet Chowdhury, Tamrin
Lee, Yeajina
Kim, Sojin
Yu, Hyeon Jong
Ji, So Young
Bae, Jeong Mo
Won, Jae Kyung
Shin, Joo Heon
Weinberger, Daniel R.
Choi, Seung Hong
Park, Chul-Kee
Kim, Jong-Il
Park, Sung-Hye
author_sort Chowdhury, Tamrin
collection PubMed
description We report a case of glioneuronal tumor (GNT) with a discovery of novel gene fusion of CLIP2-MET resulting from aberrant chromosome 7 abnormalities. We executed an elaborate genomic study on this case including whole-exome sequencing and RNA sequencing. Genomic analysis of the tumor revealed aberrations in chromosomes 1 and 7 and a CLIP2-MET fusion. Further analysis of the upregulated genes revealed substantial connections with MAPK pathway activation. We concluded that the chromosome 7 abnormalities prompted CLIP2-MET gene fusion which successively leads to MAPK pathway activation. We deliberated that MAPK pathway activation is one of the driver pathways responsible for the oncogenesis of GNT.
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spelling pubmed-72701122020-06-16 A glioneuronal tumor with CLIP2-MET fusion Chowdhury, Tamrin Lee, Yeajina Kim, Sojin Yu, Hyeon Jong Ji, So Young Bae, Jeong Mo Won, Jae Kyung Shin, Joo Heon Weinberger, Daniel R. Choi, Seung Hong Park, Chul-Kee Kim, Jong-Il Park, Sung-Hye NPJ Genom Med Case Report We report a case of glioneuronal tumor (GNT) with a discovery of novel gene fusion of CLIP2-MET resulting from aberrant chromosome 7 abnormalities. We executed an elaborate genomic study on this case including whole-exome sequencing and RNA sequencing. Genomic analysis of the tumor revealed aberrations in chromosomes 1 and 7 and a CLIP2-MET fusion. Further analysis of the upregulated genes revealed substantial connections with MAPK pathway activation. We concluded that the chromosome 7 abnormalities prompted CLIP2-MET gene fusion which successively leads to MAPK pathway activation. We deliberated that MAPK pathway activation is one of the driver pathways responsible for the oncogenesis of GNT. Nature Publishing Group UK 2020-06-03 /pmc/articles/PMC7270112/ /pubmed/32550005 http://dx.doi.org/10.1038/s41525-020-0131-6 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Case Report
Chowdhury, Tamrin
Lee, Yeajina
Kim, Sojin
Yu, Hyeon Jong
Ji, So Young
Bae, Jeong Mo
Won, Jae Kyung
Shin, Joo Heon
Weinberger, Daniel R.
Choi, Seung Hong
Park, Chul-Kee
Kim, Jong-Il
Park, Sung-Hye
A glioneuronal tumor with CLIP2-MET fusion
title A glioneuronal tumor with CLIP2-MET fusion
title_full A glioneuronal tumor with CLIP2-MET fusion
title_fullStr A glioneuronal tumor with CLIP2-MET fusion
title_full_unstemmed A glioneuronal tumor with CLIP2-MET fusion
title_short A glioneuronal tumor with CLIP2-MET fusion
title_sort glioneuronal tumor with clip2-met fusion
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7270112/
https://www.ncbi.nlm.nih.gov/pubmed/32550005
http://dx.doi.org/10.1038/s41525-020-0131-6
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