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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.
Affiliation
  • Chowdhury T; Department of Neurosurgery, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, 03080 Korea.
  • Lee Y; Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul, 03080 Korea.
  • Kim S; Genomic Medicine Institute, Medical Research Centre, Seoul National University, Seoul, 03080 Korea.
  • Yu HJ; Department of Neurosurgery, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, 03080 Korea.
  • Ji SY; Department of Neurosurgery, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, 03080 Korea.
  • Bae JM; Department of Neurosurgery, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, 03080 Korea.
  • Won JK; Department of Pathology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, 03080 Korea.
  • Shin JH; Department of Pathology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, 03080 Korea.
  • Weinberger DR; Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD 21205 USA.
  • Choi SH; Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD 21205 USA.
  • Park CK; Department of Radiology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, 03080 Korea.
  • Kim JI; Department of Neurosurgery, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, 03080 Korea.
  • Park SH; Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul, 03080 Korea.
NPJ Genom Med ; 5: 24, 2020.
Article in En | MEDLINE | ID: mdl-32550005
ABSTRACT
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.
Key words

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: NPJ Genom Med Year: 2020 Document type: Article

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: NPJ Genom Med Year: 2020 Document type: Article