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Hypermutated phenotype in gliosarcoma of the spinal cord
Gliosarcoma is a variant of glioblastoma with equally poor prognosis and characterized by mixed glial and mesenchymal pathology. Metastasis is not uncommon but the involvement of the spinal cord is rare, and comprehensive genetic characterization of spinal gliosarcoma is lacking. We describe a patie...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Nature Publishing Group UK
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7881101/ https://www.ncbi.nlm.nih.gov/pubmed/33580181 http://dx.doi.org/10.1038/s41698-021-00143-w |
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author | Hong, Christopher S. Kuzmik, Gregory A. Kundishora, Adam J. Elsamadicy, Aladine A. Koo, Andrew B. McGuone, Declan Blondin, Nicholas A. DiLuna, Michael L. Erson-Omay, E. Zeynep |
author_facet | Hong, Christopher S. Kuzmik, Gregory A. Kundishora, Adam J. Elsamadicy, Aladine A. Koo, Andrew B. McGuone, Declan Blondin, Nicholas A. DiLuna, Michael L. Erson-Omay, E. Zeynep |
author_sort | Hong, Christopher S. |
collection | PubMed |
description | Gliosarcoma is a variant of glioblastoma with equally poor prognosis and characterized by mixed glial and mesenchymal pathology. Metastasis is not uncommon but the involvement of the spinal cord is rare, and comprehensive genetic characterization of spinal gliosarcoma is lacking. We describe a patient initially diagnosed with a low-grade brain glioma via biopsy, followed by adjuvant radiation and temozolomide treatment. Nearly 2 years after diagnosis, she developed neurological deficits from an intradural, extramedullary tumor anterior to the spinal cord at T4, which was resected and diagnosed as gliosarcoma. Whole-exome sequencing (WES) of this tumor revealed a hypermutated phenotype, characterized by somatic mutations in key DNA mismatch repair (MMR) pathway genes, an abundance of C>T transitions within the identified somatic single nucleotide variations, and microsatellite stability, together consistent with temozolomide-mediated hypermutagenesis. This is the first report of a hypermutator phenotype in gliosarcoma, which may represent a novel genomic mechanism of progression from lower grade glioma. |
format | Online Article Text |
id | pubmed-7881101 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-78811012021-02-24 Hypermutated phenotype in gliosarcoma of the spinal cord Hong, Christopher S. Kuzmik, Gregory A. Kundishora, Adam J. Elsamadicy, Aladine A. Koo, Andrew B. McGuone, Declan Blondin, Nicholas A. DiLuna, Michael L. Erson-Omay, E. Zeynep NPJ Precis Oncol Case Report Gliosarcoma is a variant of glioblastoma with equally poor prognosis and characterized by mixed glial and mesenchymal pathology. Metastasis is not uncommon but the involvement of the spinal cord is rare, and comprehensive genetic characterization of spinal gliosarcoma is lacking. We describe a patient initially diagnosed with a low-grade brain glioma via biopsy, followed by adjuvant radiation and temozolomide treatment. Nearly 2 years after diagnosis, she developed neurological deficits from an intradural, extramedullary tumor anterior to the spinal cord at T4, which was resected and diagnosed as gliosarcoma. Whole-exome sequencing (WES) of this tumor revealed a hypermutated phenotype, characterized by somatic mutations in key DNA mismatch repair (MMR) pathway genes, an abundance of C>T transitions within the identified somatic single nucleotide variations, and microsatellite stability, together consistent with temozolomide-mediated hypermutagenesis. This is the first report of a hypermutator phenotype in gliosarcoma, which may represent a novel genomic mechanism of progression from lower grade glioma. Nature Publishing Group UK 2021-02-12 /pmc/articles/PMC7881101/ /pubmed/33580181 http://dx.doi.org/10.1038/s41698-021-00143-w Text en © The Author(s) 2021 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Case Report Hong, Christopher S. Kuzmik, Gregory A. Kundishora, Adam J. Elsamadicy, Aladine A. Koo, Andrew B. McGuone, Declan Blondin, Nicholas A. DiLuna, Michael L. Erson-Omay, E. Zeynep Hypermutated phenotype in gliosarcoma of the spinal cord |
title | Hypermutated phenotype in gliosarcoma of the spinal cord |
title_full | Hypermutated phenotype in gliosarcoma of the spinal cord |
title_fullStr | Hypermutated phenotype in gliosarcoma of the spinal cord |
title_full_unstemmed | Hypermutated phenotype in gliosarcoma of the spinal cord |
title_short | Hypermutated phenotype in gliosarcoma of the spinal cord |
title_sort | hypermutated phenotype in gliosarcoma of the spinal cord |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7881101/ https://www.ncbi.nlm.nih.gov/pubmed/33580181 http://dx.doi.org/10.1038/s41698-021-00143-w |
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