Next-Generation Sequencing in Breast Cancer Management: A Case Report of Genomic Tumour Evolution over Time
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.26/41555 |
Resumo: | The clinicopathological breast cancer subtypes are used in clinical practice to better anticipate biological behaviour and guide systemic treatment strategy. In the adjuvant setting, genomic assay recurrence scores became widely available for luminal-like disease. Recently, next-generation sequencing (NGS) platforms have been used, essentially, in more advanced disease setting, in situations refractory to conventional treatment, or even in rare cancers for which there are no established treatment guidelines. Moreover, subpopulations of cancer cells with unique genomes within the same patient may exist across different regions of a tumour or evolve over time, which is called intratumoural heterogeneity. We herein report a case of a 38-year-old woman with breast cancer whose primary and metastatic disease exhibited discordant expression of hormone receptors, with the former being positive and the latter negative. Furthermore, the NGS analysis revealed slight and dynamic changes of mutational profiles between different metastatic lesions, potentially impacting breast cancer management and prognosis. These alterations may reflect tissular and temporal changes in tumour subclones and may also be due to the selective pressure caused by antineoplastic treatment. The use of genomic analyses in order to improve cancer treatment has been studied prospectively with encouraging results. The widespread use of NGS tests in clinical practice also creates new challenges. The most relevant may be to know which genomic alterations detected should be valued and how they should be targeted. |
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Next-Generation Sequencing in Breast Cancer Management: A Case Report of Genomic Tumour Evolution over TimeNeoplasias da MamaPredisposição Genética para DoençaBreast NeoplasmsGenetic Predisposition to DiseaseThe clinicopathological breast cancer subtypes are used in clinical practice to better anticipate biological behaviour and guide systemic treatment strategy. In the adjuvant setting, genomic assay recurrence scores became widely available for luminal-like disease. Recently, next-generation sequencing (NGS) platforms have been used, essentially, in more advanced disease setting, in situations refractory to conventional treatment, or even in rare cancers for which there are no established treatment guidelines. Moreover, subpopulations of cancer cells with unique genomes within the same patient may exist across different regions of a tumour or evolve over time, which is called intratumoural heterogeneity. We herein report a case of a 38-year-old woman with breast cancer whose primary and metastatic disease exhibited discordant expression of hormone receptors, with the former being positive and the latter negative. Furthermore, the NGS analysis revealed slight and dynamic changes of mutational profiles between different metastatic lesions, potentially impacting breast cancer management and prognosis. These alterations may reflect tissular and temporal changes in tumour subclones and may also be due to the selective pressure caused by antineoplastic treatment. The use of genomic analyses in order to improve cancer treatment has been studied prospectively with encouraging results. The widespread use of NGS tests in clinical practice also creates new challenges. The most relevant may be to know which genomic alterations detected should be valued and how they should be targeted.Repositório ComumBatista, MVAlpuim Costa, DBorralho, PBraga, S2022-08-07T21:37:37Z20212021-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.26/41555engCase Rep Oncol . 2021 Aug 16;14(2):1212-1219.10.1159/000517441info: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:RCAAP2022-12-20T14:25:29ZPortal AgregadorONG |
dc.title.none.fl_str_mv |
Next-Generation Sequencing in Breast Cancer Management: A Case Report of Genomic Tumour Evolution over Time |
title |
Next-Generation Sequencing in Breast Cancer Management: A Case Report of Genomic Tumour Evolution over Time |
spellingShingle |
Next-Generation Sequencing in Breast Cancer Management: A Case Report of Genomic Tumour Evolution over Time Batista, MV Neoplasias da Mama Predisposição Genética para Doença Breast Neoplasms Genetic Predisposition to Disease |
title_short |
Next-Generation Sequencing in Breast Cancer Management: A Case Report of Genomic Tumour Evolution over Time |
title_full |
Next-Generation Sequencing in Breast Cancer Management: A Case Report of Genomic Tumour Evolution over Time |
title_fullStr |
Next-Generation Sequencing in Breast Cancer Management: A Case Report of Genomic Tumour Evolution over Time |
title_full_unstemmed |
Next-Generation Sequencing in Breast Cancer Management: A Case Report of Genomic Tumour Evolution over Time |
title_sort |
Next-Generation Sequencing in Breast Cancer Management: A Case Report of Genomic Tumour Evolution over Time |
author |
Batista, MV |
author_facet |
Batista, MV Alpuim Costa, D Borralho, P Braga, S |
author_role |
author |
author2 |
Alpuim Costa, D Borralho, P Braga, S |
author2_role |
author author author |
dc.contributor.none.fl_str_mv |
Repositório Comum |
dc.contributor.author.fl_str_mv |
Batista, MV Alpuim Costa, D Borralho, P Braga, S |
dc.subject.por.fl_str_mv |
Neoplasias da Mama Predisposição Genética para Doença Breast Neoplasms Genetic Predisposition to Disease |
topic |
Neoplasias da Mama Predisposição Genética para Doença Breast Neoplasms Genetic Predisposition to Disease |
description |
The clinicopathological breast cancer subtypes are used in clinical practice to better anticipate biological behaviour and guide systemic treatment strategy. In the adjuvant setting, genomic assay recurrence scores became widely available for luminal-like disease. Recently, next-generation sequencing (NGS) platforms have been used, essentially, in more advanced disease setting, in situations refractory to conventional treatment, or even in rare cancers for which there are no established treatment guidelines. Moreover, subpopulations of cancer cells with unique genomes within the same patient may exist across different regions of a tumour or evolve over time, which is called intratumoural heterogeneity. We herein report a case of a 38-year-old woman with breast cancer whose primary and metastatic disease exhibited discordant expression of hormone receptors, with the former being positive and the latter negative. Furthermore, the NGS analysis revealed slight and dynamic changes of mutational profiles between different metastatic lesions, potentially impacting breast cancer management and prognosis. These alterations may reflect tissular and temporal changes in tumour subclones and may also be due to the selective pressure caused by antineoplastic treatment. The use of genomic analyses in order to improve cancer treatment has been studied prospectively with encouraging results. The widespread use of NGS tests in clinical practice also creates new challenges. The most relevant may be to know which genomic alterations detected should be valued and how they should be targeted. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021 2021-01-01T00:00:00Z 2022-08-07T21:37:37Z |
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/10400.26/41555 |
url |
http://hdl.handle.net/10400.26/41555 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Case Rep Oncol . 2021 Aug 16;14(2):1212-1219. 10.1159/000517441 |
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.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 |
instacron_str |
RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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1777301673802203136 |