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Genomic characterization of a PPP1CB-ALK fusion with fusion gene amplification in a congenital glioblastoma.
- Source :
-
Cancer genetics [Cancer Genet] 2021 Apr; Vol. 252-253, pp. 37-42. Date of Electronic Publication: 2020 Dec 11. - Publication Year :
- 2021
-
Abstract
- ALK (Anaplastic lymphoma kinase) fusion proteins are oncogenic and have been seen in various tumors. PPP1CB-ALK fusions are rare but have been reported in a few patients with low- or high-grade gliomas. However, little is known regarding the mechanism of fusion formation and genomic break points of this fusion. We performed genomic characterization of a PPP1CB-ALK fusion with fusion gene amplification in a congenital glioblastoma. The PPP1CB-ALK consists of exons 1-5 of PPP1CB and exons 20-29 of ALK. The genomic translocation breakpoints were determined by real-time quantitative PCR (RT-qPCR) and Sanger sequencing of genomic DNA. Next generation sequencing, RT-qPCR and fluorescence in situ hybridization analyses demonstrated PPP1CB-ALK amplification. Copy number analyses of genes between PPP1CB and ALK using RT-qPCR suggest that the PPP1CB-ALK is likely the result of local chromothripsis followed by episomal amplification. Transcriptome sequencing demonstrated high-level SOX2 expression and predicted WNT/β-catenin pathway activation, suggesting possible therapeutic approaches.<br />Competing Interests: Declaration of Competing Interest None declared.<br /> (Copyright © 2020 The Authors. Published by Elsevier Inc. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 2210-7762
- Volume :
- 252-253
- Database :
- MEDLINE
- Journal :
- Cancer genetics
- Publication Type :
- Academic Journal
- Accession number :
- 33341678
- Full Text :
- https://doi.org/10.1016/j.cancergen.2020.12.005