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Erschienen in: Brain Tumor Pathology 3/2019

04.02.2019 | Rapid Short communication

Next-generation whole exome sequencing of glioblastoma with a primitive neuronal component

verfasst von: Guiyan Xu, Hongwu Zheng, Jian Yi Li

Erschienen in: Brain Tumor Pathology | Ausgabe 3/2019

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Abstract

Glioblastoma with a primitive neuronal component (GBM-PN) was renamed from glioblastoma with primitive neuroectodermal tumor-like component (GBM-PNET) in the new WHO classification of tumors of the central nervous system in 2016. GBM-PN is a rare variant of glioblastoma. There were not so many publications on the investigation of GBM-PN. We did whole exome sequencing for 11 GBM-PN cases and found that the percentage of TP53, PIK3CA, PIK3R1, or PTEN mutation in our GBM-PN cases (72.7%, 27.3%, 27.3%, and 27.3% respectively) was much higher than that in cases in TCGA GBM 2008, TCGA GBM 2013, and TCGA lower-grade glioma databases. The findings indicate that GBM-PN is a distinct variant of glioblastoma. The next-generation sequencing can play a role in the diagnosis of GBM-PN especially for small biopsy cases. Eight out of 11 cases showed mutations in PTEN–PI3K pathway, which indicates that targeted therapeutic agents (PI3K inhibitors, mTORC1 inhibitors or dual PI3K/mTOR inhibitors) may be used for the treatment of GBM-PN in the future.
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Metadaten
Titel
Next-generation whole exome sequencing of glioblastoma with a primitive neuronal component
verfasst von
Guiyan Xu
Hongwu Zheng
Jian Yi Li
Publikationsdatum
04.02.2019
Verlag
Springer Singapore
Erschienen in
Brain Tumor Pathology / Ausgabe 3/2019
Print ISSN: 1433-7398
Elektronische ISSN: 1861-387X
DOI
https://doi.org/10.1007/s10014-019-00334-1

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