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

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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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Acknowledgements

We give special thanks to Dr. Betty Diamond, who provided the lab space and equipments. We also appreciate help and support from all her lab members. We are thankful for Mr. Daniel Loen and Ms. Jill Wishinsky for managing the Grant. Dept. of Pathology and Lab. Medicine: we thank Dr. James Crawford for his support and encouragement, Ms. Claudine Alexis for ordering all our materials, and people in histology laboratory and immunostain laboratory for technical support. Dr. Guiyan Xu now stays at home.

Funding

This work was supported by Northwell Health Cancer Institute.

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Authors and Affiliations

  1. Department of Pathology and Laboratory Medicine, North Shore University Hospital and Long Island Jewish Medical Center, Lake Success, 11042, NY, USA

    Guiyan Xu & Jian Yi Li

  2. Cancer Institute, Northwell Health, Lake Success, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY, USA

    Jian Yi Li

  3. Department of Pathology and Laboratory Medicine, Weill Cornell Medicine College, New York, NY, 10065, USA

    Hongwu Zheng

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  1. Guiyan Xu
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Correspondence to Jian Yi Li.

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Xu, G., Zheng, H. & Li, J.Y. Next-generation whole exome sequencing of glioblastoma with a primitive neuronal component. Brain Tumor Pathol 36, 129–134 (2019). https://doi.org/10.1007/s10014-019-00334-1

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