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The Glioma-IRE project − Molecular profiling in patients with glioma: steps toward an individualized diagnostic and therapeutic approach
BACKGROUND: This study aimed to characterize the genetic profile of patients with glioma and discuss the impact of next-generation sequencing in glioma diagnosis and treatment. METHODS: Between 2019 and 2022, we analyzed the genetic profile of 99 patients with glioma through the Oncomine Focus Assay...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10035236/ https://www.ncbi.nlm.nih.gov/pubmed/36959606 http://dx.doi.org/10.1186/s12967-023-04057-y |
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author | Villani, Veronica Casini, Beatrice Tanzilli, Antonio Lecce, Mario Rasile, Fabrizio Telera, Stefano Pace, Andrea Piludu, Francesca Terrenato, Irene Rollo, Francesca De Nicola, Francesca Fanciulli, Maurizio Pallocca, Matteo Ciliberto, Gennaro Carosi, Mariantonia |
author_facet | Villani, Veronica Casini, Beatrice Tanzilli, Antonio Lecce, Mario Rasile, Fabrizio Telera, Stefano Pace, Andrea Piludu, Francesca Terrenato, Irene Rollo, Francesca De Nicola, Francesca Fanciulli, Maurizio Pallocca, Matteo Ciliberto, Gennaro Carosi, Mariantonia |
author_sort | Villani, Veronica |
collection | PubMed |
description | BACKGROUND: This study aimed to characterize the genetic profile of patients with glioma and discuss the impact of next-generation sequencing in glioma diagnosis and treatment. METHODS: Between 2019 and 2022, we analyzed the genetic profile of 99 patients with glioma through the Oncomine Focus Assay. The assay enables the detection of mutations in 52 driver genes, including single nucleotide variants (SNVs), copy number variants (CNVs), and gene fusions. We also collected and analyzed patients’ clinic characteristics and treatment outcomes. RESULTS: Over a period of 35 months, 700 patients with glioma followed by our neuro-oncology unit were screened, and 99 were enrolled in the study; most of the patients were excluded for inadequate non-morphological MRI or lack/inadequacy of the tissue samples. Based on our findings, most patients with glioma present mutations, such as SNVs, CNVs or gene fusions. Our data were similar to those reported by The Cancer Genome Atlas Program in terms of frequency of SNVs and CNVs, while we observed more cases of gene fusions. Median overall survival, progression-free survival, and time to progression were significantly lower for patients with grade VI glioblastoma than those with other gliomas. Only four patients were offered a targeted treatment based on the mutation detected; however, only one received treatment, the others could not receive the selected treatment because of worsening clinical status. CONCLUSION: Routine timely molecular profiling in patients with glioma should be implemented to offer patients an individualized diagnostic approach and provide them with advanced targeted therapy options if available. |
format | Online Article Text |
id | pubmed-10035236 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-100352362023-03-24 The Glioma-IRE project − Molecular profiling in patients with glioma: steps toward an individualized diagnostic and therapeutic approach Villani, Veronica Casini, Beatrice Tanzilli, Antonio Lecce, Mario Rasile, Fabrizio Telera, Stefano Pace, Andrea Piludu, Francesca Terrenato, Irene Rollo, Francesca De Nicola, Francesca Fanciulli, Maurizio Pallocca, Matteo Ciliberto, Gennaro Carosi, Mariantonia J Transl Med Research BACKGROUND: This study aimed to characterize the genetic profile of patients with glioma and discuss the impact of next-generation sequencing in glioma diagnosis and treatment. METHODS: Between 2019 and 2022, we analyzed the genetic profile of 99 patients with glioma through the Oncomine Focus Assay. The assay enables the detection of mutations in 52 driver genes, including single nucleotide variants (SNVs), copy number variants (CNVs), and gene fusions. We also collected and analyzed patients’ clinic characteristics and treatment outcomes. RESULTS: Over a period of 35 months, 700 patients with glioma followed by our neuro-oncology unit were screened, and 99 were enrolled in the study; most of the patients were excluded for inadequate non-morphological MRI or lack/inadequacy of the tissue samples. Based on our findings, most patients with glioma present mutations, such as SNVs, CNVs or gene fusions. Our data were similar to those reported by The Cancer Genome Atlas Program in terms of frequency of SNVs and CNVs, while we observed more cases of gene fusions. Median overall survival, progression-free survival, and time to progression were significantly lower for patients with grade VI glioblastoma than those with other gliomas. Only four patients were offered a targeted treatment based on the mutation detected; however, only one received treatment, the others could not receive the selected treatment because of worsening clinical status. CONCLUSION: Routine timely molecular profiling in patients with glioma should be implemented to offer patients an individualized diagnostic approach and provide them with advanced targeted therapy options if available. BioMed Central 2023-03-23 /pmc/articles/PMC10035236/ /pubmed/36959606 http://dx.doi.org/10.1186/s12967-023-04057-y Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Villani, Veronica Casini, Beatrice Tanzilli, Antonio Lecce, Mario Rasile, Fabrizio Telera, Stefano Pace, Andrea Piludu, Francesca Terrenato, Irene Rollo, Francesca De Nicola, Francesca Fanciulli, Maurizio Pallocca, Matteo Ciliberto, Gennaro Carosi, Mariantonia The Glioma-IRE project − Molecular profiling in patients with glioma: steps toward an individualized diagnostic and therapeutic approach |
title | The Glioma-IRE project − Molecular profiling in patients with glioma: steps toward an individualized diagnostic and therapeutic approach |
title_full | The Glioma-IRE project − Molecular profiling in patients with glioma: steps toward an individualized diagnostic and therapeutic approach |
title_fullStr | The Glioma-IRE project − Molecular profiling in patients with glioma: steps toward an individualized diagnostic and therapeutic approach |
title_full_unstemmed | The Glioma-IRE project − Molecular profiling in patients with glioma: steps toward an individualized diagnostic and therapeutic approach |
title_short | The Glioma-IRE project − Molecular profiling in patients with glioma: steps toward an individualized diagnostic and therapeutic approach |
title_sort | glioma-ire project − molecular profiling in patients with glioma: steps toward an individualized diagnostic and therapeutic approach |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10035236/ https://www.ncbi.nlm.nih.gov/pubmed/36959606 http://dx.doi.org/10.1186/s12967-023-04057-y |
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