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Spinal Metastasis in a Patient with Supratentorial Glioblastoma with Primitive Neuronal Component: A Case Report with Clinical and Molecular Evaluation

Glioblastoma (GBM) is regarded as an aggressive brain tumor that rarely develops extracranial metastases. Despite well-investigated molecular alterations in GBM, there is a limited understanding of these associated with the metastatic potential. We herein present a case report of a 43-year-old woman...

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Autores principales: Hendrych, Michal, Solar, Peter, Hermanova, Marketa, Slaby, Ondrej, Valekova, Hana, Vecera, Marek, Kopkova, Alena, Mackerle, Zdenek, Kazda, Tomas, Pospisil, Petr, Lakomy, Radek, Chrastina, Jan, Sana, Jiri, Jancalek, Radim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858260/
https://www.ncbi.nlm.nih.gov/pubmed/36672991
http://dx.doi.org/10.3390/diagnostics13020181
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author Hendrych, Michal
Solar, Peter
Hermanova, Marketa
Slaby, Ondrej
Valekova, Hana
Vecera, Marek
Kopkova, Alena
Mackerle, Zdenek
Kazda, Tomas
Pospisil, Petr
Lakomy, Radek
Chrastina, Jan
Sana, Jiri
Jancalek, Radim
author_facet Hendrych, Michal
Solar, Peter
Hermanova, Marketa
Slaby, Ondrej
Valekova, Hana
Vecera, Marek
Kopkova, Alena
Mackerle, Zdenek
Kazda, Tomas
Pospisil, Petr
Lakomy, Radek
Chrastina, Jan
Sana, Jiri
Jancalek, Radim
author_sort Hendrych, Michal
collection PubMed
description Glioblastoma (GBM) is regarded as an aggressive brain tumor that rarely develops extracranial metastases. Despite well-investigated molecular alterations in GBM, there is a limited understanding of these associated with the metastatic potential. We herein present a case report of a 43-year-old woman with frontal GBM with primitive neuronal component who underwent gross total resection followed by chemoradiation. Five months after surgery, the patient was diagnosed with an intraspinal GBM metastasis. Next-generation sequencing analysis of both the primary and metastatic GBM tissues was performed using the Illumina TruSight Tumor 170 assay. The number of single nucleotide variants observed in the metastatic sample was more than two times higher. Mutations in TP53, PTEN, and RB1 found in the primary and metastatic tissue samples indicated the mesenchymal molecular GBM subtype. Among others, there were two inactivating mutations (Arg1026Ile, Trp1831Ter) detected in the NF1 gene, two novel NOTCH3 variants of unknown significance predicted to be damaging (Pro1505Thr, Cys1099Tyr), one novel ARID1A variant of unknown significance (Arg1046Ser), and one gene fusion of unknown significance, EIF2B5-KIF5B, in the metastatic sample. Based on the literature evidence, the alterations of NF1, NOTCH3, and ARID1A could explain, at least in part, the acquired invasiveness and metastatic potential in this particular GBM case.
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spelling pubmed-98582602023-01-21 Spinal Metastasis in a Patient with Supratentorial Glioblastoma with Primitive Neuronal Component: A Case Report with Clinical and Molecular Evaluation Hendrych, Michal Solar, Peter Hermanova, Marketa Slaby, Ondrej Valekova, Hana Vecera, Marek Kopkova, Alena Mackerle, Zdenek Kazda, Tomas Pospisil, Petr Lakomy, Radek Chrastina, Jan Sana, Jiri Jancalek, Radim Diagnostics (Basel) Case Report Glioblastoma (GBM) is regarded as an aggressive brain tumor that rarely develops extracranial metastases. Despite well-investigated molecular alterations in GBM, there is a limited understanding of these associated with the metastatic potential. We herein present a case report of a 43-year-old woman with frontal GBM with primitive neuronal component who underwent gross total resection followed by chemoradiation. Five months after surgery, the patient was diagnosed with an intraspinal GBM metastasis. Next-generation sequencing analysis of both the primary and metastatic GBM tissues was performed using the Illumina TruSight Tumor 170 assay. The number of single nucleotide variants observed in the metastatic sample was more than two times higher. Mutations in TP53, PTEN, and RB1 found in the primary and metastatic tissue samples indicated the mesenchymal molecular GBM subtype. Among others, there were two inactivating mutations (Arg1026Ile, Trp1831Ter) detected in the NF1 gene, two novel NOTCH3 variants of unknown significance predicted to be damaging (Pro1505Thr, Cys1099Tyr), one novel ARID1A variant of unknown significance (Arg1046Ser), and one gene fusion of unknown significance, EIF2B5-KIF5B, in the metastatic sample. Based on the literature evidence, the alterations of NF1, NOTCH3, and ARID1A could explain, at least in part, the acquired invasiveness and metastatic potential in this particular GBM case. MDPI 2023-01-04 /pmc/articles/PMC9858260/ /pubmed/36672991 http://dx.doi.org/10.3390/diagnostics13020181 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Hendrych, Michal
Solar, Peter
Hermanova, Marketa
Slaby, Ondrej
Valekova, Hana
Vecera, Marek
Kopkova, Alena
Mackerle, Zdenek
Kazda, Tomas
Pospisil, Petr
Lakomy, Radek
Chrastina, Jan
Sana, Jiri
Jancalek, Radim
Spinal Metastasis in a Patient with Supratentorial Glioblastoma with Primitive Neuronal Component: A Case Report with Clinical and Molecular Evaluation
title Spinal Metastasis in a Patient with Supratentorial Glioblastoma with Primitive Neuronal Component: A Case Report with Clinical and Molecular Evaluation
title_full Spinal Metastasis in a Patient with Supratentorial Glioblastoma with Primitive Neuronal Component: A Case Report with Clinical and Molecular Evaluation
title_fullStr Spinal Metastasis in a Patient with Supratentorial Glioblastoma with Primitive Neuronal Component: A Case Report with Clinical and Molecular Evaluation
title_full_unstemmed Spinal Metastasis in a Patient with Supratentorial Glioblastoma with Primitive Neuronal Component: A Case Report with Clinical and Molecular Evaluation
title_short Spinal Metastasis in a Patient with Supratentorial Glioblastoma with Primitive Neuronal Component: A Case Report with Clinical and Molecular Evaluation
title_sort spinal metastasis in a patient with supratentorial glioblastoma with primitive neuronal component: a case report with clinical and molecular evaluation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858260/
https://www.ncbi.nlm.nih.gov/pubmed/36672991
http://dx.doi.org/10.3390/diagnostics13020181
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