A glioneuronal tumor with CLIP2-MET fusion

Tamrin Chowdhury; Yeajina Lee; Sojin Kim; Hyeon Jong Yu; So Young Ji; Jeong Mo Bae; Jae Kyung Won; Joo Heon Shin; Daniel R Weinberger; Seung Hong Choi; Chul-Kee Park; Jong-Il Kim; Sung-Hye Park

doi:10.1038/s41525-020-0131-6

A glioneuronal tumor with CLIP2-MET fusion

NPJ Genom Med. 2020 Jun 3:5:24. doi: 10.1038/s41525-020-0131-6. eCollection 2020.

Authors

Tamrin Chowdhury^#¹, Yeajina Lee^#^{2

3}, Sojin Kim¹, Hyeon Jong Yu¹, So Young Ji¹, Jeong Mo Bae⁴, Jae Kyung Won⁴, Joo Heon Shin⁵, Daniel R Weinberger⁵, Seung Hong Choi⁶, Chul-Kee Park¹, Jong-Il Kim^{2

3}, Sung-Hye Park⁴

Affiliations

¹ Department of Neurosurgery, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, 03080 Korea.
² Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul, 03080 Korea.
³ Genomic Medicine Institute, Medical Research Centre, Seoul National University, Seoul, 03080 Korea.
⁴ Department of Pathology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, 03080 Korea.
⁵ Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD 21205 USA.
⁶ Department of Radiology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, 03080 Korea.

^# Contributed equally.

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.

Keywords: Cancer genomics; Oncogenesis.

Publication types

Case Reports