Genomic characterization of a PPP1CB-ALK fusion with fusion gene amplification in a congenital glioblastoma.
作者： Yiming Zhong , Fumin Lin , Feng Xu , Jeff Schubert , Jinhua Wu
DOI: 10.1016/J.CANCERGEN.2020.12.005
关键词:
摘要: ALK (Anaplastic lymphoma kinase) fusion proteins are oncogenic and have been seen in various tumors. PPP1CB-ALK fusions rare but reported a few patients with low- or high-grade gliomas. However, little is known regarding the mechanism of formation genomic break points this fusion. We performed characterization gene amplification congenital glioblastoma. The consists exons 1-5 PPP1CB 20-29 ALK. translocation breakpoints were determined by real-time quantitative PCR (RT-qPCR) Sanger sequencing DNA. Next generation sequencing, RT-qPCR fluorescence situ hybridization analyses demonstrated amplification. Copy number genes between using suggest that likely result local chromothripsis followed episomal Transcriptome high-level SOX2 expression predicted WNT/β-catenin pathway activation, suggesting possible therapeutic approaches.
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