A glioneuronal tumor with CLIP2-MET fusion

具有 CLIP2-MET 融合的胶质神经元肿瘤

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作者: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

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.

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