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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Detalles Bibliográficos
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:
Case Report
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
Descripción
Sumario: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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