Comprehensive genomic profiling of cell-free circulating tumor DNA detects response to Ribociclib plus Letrozole in a patient with metastatic breast cancer
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2022 |
| 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/10451/56149 |
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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Comprehensive genomic profiling of cell-free circulating tumor DNA detects response to Ribociclib plus Letrozole in a patient with metastatic breast cancerCirculating cell-free DNALiquid biopsyMetastatic breast cancerRibociclib plus letrozole© 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/).Analysis of cell-free circulating tumor DNA obtained by liquid biopsy is a non-invasive approach that may provide clinically actionable information when conventional tissue biopsy is inaccessible or infeasible. Here, we followed a patient with hormone receptor-positive and human epidermal growth factor receptor (HER) 2-negative breast cancer who developed bone metastases seven years after mastectomy. We analyzed circulating cell-free DNA (cfDNA) extracted from plasma using high-depth massively parallel sequencing targeting 468 cancer-associated genes, and we identified a clonal hotspot missense mutation in the PIK3CA gene (3:178952085, A > G, H1047R) and amplification of the CCND1 gene. Whole-exome sequencing revealed that both alterations were present in the primary tumor. After treatment with ribociclib plus letrozole, the genetic abnormalities were no longer detected in cfDNA. These results underscore the clinical utility of combining liquid biopsy and comprehensive genomic profiling to monitor treatment response in patients with metastasized breast cancer.This work was supported by Fundação para a Ciência e Tecnologia (FCT)/Ministério da Ciência, Tecnologia e Ensino Superior, Portugal, through Fundos do Orçamento de Estado to Instituto de Medicina Molecular João Lobo Antunes (LA/P/0082/2020), and FCT/FEDER/POR Lisboa 2020, Programa Operacional Regional de Lisboa, PORTUGAL 2020 (LISBOA-01-0145-FEDER-016394), and FEDER/POR Lisboa 2020-Programa Operacional Regional de Lisboa, PORTUGAL 2020 (Infogene, 045300). C.S. was a recipient of a FCT fellowship (SFRH/BDE/110544/2015). This work was funded in part by the National Institutes of Health (NIH)/National Cancer Institute (NCI) Cancer Center Support Grant (P30 CA008748; MSK). J.S.R-F. and B.W. are funded in part by the NIH/NCI P50 CA247749 01 grant and a Breast Cancer Research Foundation grant. J.S.R.-F. is also funded in part by a Susan G Komen leadership grant, and B.W. by a Cycle for Survival grant.MDPIRepositório da Universidade de LisboaSilveira, CatarinaSousa, Ana CarlaCorredeira, PatríciaMartins, MartaSousa, Ana RitaDa Cruz Paula, ArnaudSelenica, PierBrown, David N.Golkaram, MahdiKaplan, ShannonZhang, ShileLiu, LiWeigelt, BrittaReis-Filho, Jorge S.Costa, LuisCarmo-Fonseca, Maria2023-02-03T16:58:10Z20222022-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/56149engBiomolecules. 2022 Dec 6;12(12):181810.3390/biom121218182218-273Xinfo: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:RCAAP2023-11-08T17:03:35Zoai:repositorio.ul.pt:10451/56149Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:06:42.799960Repositório 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 |
Comprehensive genomic profiling of cell-free circulating tumor DNA detects response to Ribociclib plus Letrozole in a patient with metastatic breast cancer |
| title |
Comprehensive genomic profiling of cell-free circulating tumor DNA detects response to Ribociclib plus Letrozole in a patient with metastatic breast cancer |
| spellingShingle |
Comprehensive genomic profiling of cell-free circulating tumor DNA detects response to Ribociclib plus Letrozole in a patient with metastatic breast cancer Silveira, Catarina Circulating cell-free DNA Liquid biopsy Metastatic breast cancer Ribociclib plus letrozole |
| title_short |
Comprehensive genomic profiling of cell-free circulating tumor DNA detects response to Ribociclib plus Letrozole in a patient with metastatic breast cancer |
| title_full |
Comprehensive genomic profiling of cell-free circulating tumor DNA detects response to Ribociclib plus Letrozole in a patient with metastatic breast cancer |
| title_fullStr |
Comprehensive genomic profiling of cell-free circulating tumor DNA detects response to Ribociclib plus Letrozole in a patient with metastatic breast cancer |
| title_full_unstemmed |
Comprehensive genomic profiling of cell-free circulating tumor DNA detects response to Ribociclib plus Letrozole in a patient with metastatic breast cancer |
| title_sort |
Comprehensive genomic profiling of cell-free circulating tumor DNA detects response to Ribociclib plus Letrozole in a patient with metastatic breast cancer |
| author |
Silveira, Catarina |
| author_facet |
Silveira, Catarina Sousa, Ana Carla Corredeira, Patrícia Martins, Marta Sousa, Ana Rita Da Cruz Paula, Arnaud Selenica, Pier Brown, David N. Golkaram, Mahdi Kaplan, Shannon Zhang, Shile Liu, Li Weigelt, Britta Reis-Filho, Jorge S. Costa, Luis Carmo-Fonseca, Maria |
| author_role |
author |
| author2 |
Sousa, Ana Carla Corredeira, Patrícia Martins, Marta Sousa, Ana Rita Da Cruz Paula, Arnaud Selenica, Pier Brown, David N. Golkaram, Mahdi Kaplan, Shannon Zhang, Shile Liu, Li Weigelt, Britta Reis-Filho, Jorge S. Costa, Luis Carmo-Fonseca, Maria |
| author2_role |
author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Repositório da Universidade de Lisboa |
| dc.contributor.author.fl_str_mv |
Silveira, Catarina Sousa, Ana Carla Corredeira, Patrícia Martins, Marta Sousa, Ana Rita Da Cruz Paula, Arnaud Selenica, Pier Brown, David N. Golkaram, Mahdi Kaplan, Shannon Zhang, Shile Liu, Li Weigelt, Britta Reis-Filho, Jorge S. Costa, Luis Carmo-Fonseca, Maria |
| dc.subject.por.fl_str_mv |
Circulating cell-free DNA Liquid biopsy Metastatic breast cancer Ribociclib plus letrozole |
| topic |
Circulating cell-free DNA Liquid biopsy Metastatic breast cancer Ribociclib plus letrozole |
| 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 2023-02-03T16:58:10Z |
| dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
| status_str |
publishedVersion |
| dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10451/56149 |
| url |
http://hdl.handle.net/10451/56149 |
| dc.language.iso.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
Biomolecules. 2022 Dec 6;12(12):1818 10.3390/biom12121818 2218-273X |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
| dc.publisher.none.fl_str_mv |
MDPI |
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MDPI |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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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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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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