Genomic profiling of sarcomas: a promising weapon in the therapeutic arsenal

Detalhes bibliográficos
Autor(a) principal: Brás, Raquel
Data de Publicação: 2022
Outros Autores: Lopez-Presa, Dolores, Esperança Martins, Miguel, Alvim, Cecilia, Gallego Páez, Lina Marcela, Costa, Luis, Fernandes, Isabel
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10451/56200
Resumo: © 2022 by the authors. 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/).
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spelling Genomic profiling of sarcomas: a promising weapon in the therapeutic arsenalCancer careComprehensive genomic profilingGenomicsNext-generation sequencingRare tumorSarcoma sequencing-directed therapyTargeted therapy© 2022 by the authors. 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/).Sarcomas are rare malignant mesenchymal neoplasms, and the knowledge of tumor biology and genomics is scarce. Chemotherapy is the standard of care in advanced disease, with poor outcomes. Identifying actionable genomic alterations may offer effective salvage therapeutic options when previous lines have failed. Here, we report a retrospective cohort study of sarcoma patients followed at our center and submitted to comprehensive genomic profiling between January 2020 and June 2021. Thirty patients were included, most (96.7%) with reportable genomic alterations. The most common alterations were linked to cell cycle regulation (TP53, CDKN2A/B, and RB1 deletions and CDK4, MDM2, and MYC amplifications). Most patients (96.7%) had microsatellite stability and low tumor mutational burden (≤10 muts/megabase (Mb); median 2 Muts/Mb). Two-thirds of patients had actionable mutations for targeted treatments, including five cases with alterations amenable to targeted therapies with clinical benefit within the patient's tumor type, ten cases with targetable alterations with clinical benefit in other tumor types, and five cases with alterations amenable to targeting with drugs under investigation in a clinical trial setting. A significant proportion of cases in this study had actionable genomic alterations with available targeted drugs. Next-generation sequencing is a feasible option for identifying molecular drivers that can provide therapeutic options for individual patients. Molecular Tumor Boards should be implemented in the clinical practice to discuss genomic findings and inform clinically relevant targeted therapies.MDPIRepositório da Universidade de LisboaBrás, RaquelLopez-Presa, DoloresEsperança Martins, MiguelAlvim, CeciliaGallego Páez, Lina MarcelaCosta, LuisFernandes, Isabel2023-02-07T12:38:17Z20222022-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/56200engInt J Mol Sci. 2022 Nov 17;23(22):142271661-659610.3390/ijms2322142271422-0067info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-08T17:03:37Zoai:repositorio.ul.pt:10451/56200Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:06:43.630381Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Genomic profiling of sarcomas: a promising weapon in the therapeutic arsenal
title Genomic profiling of sarcomas: a promising weapon in the therapeutic arsenal
spellingShingle Genomic profiling of sarcomas: a promising weapon in the therapeutic arsenal
Brás, Raquel
Cancer care
Comprehensive genomic profiling
Genomics
Next-generation sequencing
Rare tumor
Sarcoma sequencing-directed therapy
Targeted therapy
title_short Genomic profiling of sarcomas: a promising weapon in the therapeutic arsenal
title_full Genomic profiling of sarcomas: a promising weapon in the therapeutic arsenal
title_fullStr Genomic profiling of sarcomas: a promising weapon in the therapeutic arsenal
title_full_unstemmed Genomic profiling of sarcomas: a promising weapon in the therapeutic arsenal
title_sort Genomic profiling of sarcomas: a promising weapon in the therapeutic arsenal
author Brás, Raquel
author_facet Brás, Raquel
Lopez-Presa, Dolores
Esperança Martins, Miguel
Alvim, Cecilia
Gallego Páez, Lina Marcela
Costa, Luis
Fernandes, Isabel
author_role author
author2 Lopez-Presa, Dolores
Esperança Martins, Miguel
Alvim, Cecilia
Gallego Páez, Lina Marcela
Costa, Luis
Fernandes, Isabel
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv Brás, Raquel
Lopez-Presa, Dolores
Esperança Martins, Miguel
Alvim, Cecilia
Gallego Páez, Lina Marcela
Costa, Luis
Fernandes, Isabel
dc.subject.por.fl_str_mv Cancer care
Comprehensive genomic profiling
Genomics
Next-generation sequencing
Rare tumor
Sarcoma sequencing-directed therapy
Targeted therapy
topic Cancer care
Comprehensive genomic profiling
Genomics
Next-generation sequencing
Rare tumor
Sarcoma sequencing-directed therapy
Targeted therapy
description © 2022 by the authors. 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/).
publishDate 2022
dc.date.none.fl_str_mv 2022
2022-01-01T00:00:00Z
2023-02-07T12:38:17Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10451/56200
url http://hdl.handle.net/10451/56200
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Int J Mol Sci. 2022 Nov 17;23(22):14227
1661-6596
10.3390/ijms232214227
1422-0067
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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