PIK3CA Gene Mutations in HNSCC

Detalhes bibliográficos
Autor(a) principal: Cochicho, Daniela
Data de Publicação: 2022
Outros Autores: Esteves, Susana, Rito, Miguel, Silva, Fernanda, Martins, Luís, Montalvão, Pedro, Cunha, Mário, Magalhães, Miguel, Gil da Costa, Rui M, Felix, Ana
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10362/134571
Resumo: Funding: This study was financially supported by the Virology Laboratory from the Pathology Department of the Portuguese Oncology Institute of Lisboa IUIC/1168, with contributions by the Research Center of the Portuguese Oncology Institute of Porto (project no. PI86-CI-IPOP-66-2017), by Base Funding-UIDB/00511/2020 of the Laboratory for Process Engineering, Environment, Biotechnology, and Energy—LEPABE—funded by national funds through the FCT/MCTES (PIDDAC), and Project 2SMART-engineered Smart materials for Smart citizens, with reference NORTE-01- 0145-FEDER-000054, supported by Norte Portugal Regional Operational Programme (NORTE 2020) under the PORTUGAL 2020 Partnership Agreement through the European Regional Development Fund (ERDF).
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spelling PIK3CA Gene Mutations in HNSCCSystematic Review and Correlations with HPV Status and Patient SurvivalSDG 3 - Good Health and Well-beingFunding: This study was financially supported by the Virology Laboratory from the Pathology Department of the Portuguese Oncology Institute of Lisboa IUIC/1168, with contributions by the Research Center of the Portuguese Oncology Institute of Porto (project no. PI86-CI-IPOP-66-2017), by Base Funding-UIDB/00511/2020 of the Laboratory for Process Engineering, Environment, Biotechnology, and Energy—LEPABE—funded by national funds through the FCT/MCTES (PIDDAC), and Project 2SMART-engineered Smart materials for Smart citizens, with reference NORTE-01- 0145-FEDER-000054, supported by Norte Portugal Regional Operational Programme (NORTE 2020) under the PORTUGAL 2020 Partnership Agreement through the European Regional Development Fund (ERDF).PIK3CA mutations are believed to contribute to the pathogenesis of human papillomavirus (HPV)-associated head and neck squamous cell carcinomas (HNSCC). This study aims to establish the frequency of PIK3CA mutations in a Portuguese HNSCC cohort and to determine their association with the HPV status and patient survival. A meta-analysis of scientific literature also revealed widely different mutation rates in cohorts from different world regions and a trend towards improved prognosis among patients with PIK3CA mutations. DNA samples were available from 95 patients diagnosed with HNSCC at the Portuguese Institute of Oncology in Lisbon between 2010 and 2019. HPV status was established based on viral DNA detected using real-time PCR. The evaluation of PIK3CA gene mutations was performed by real-time PCR for four mutations (H1047L; E542K, E545K, and E545D). Thirty-seven cases were found to harbour PIK3CA mutations (39%), with the E545D mutation (73%) more frequently detected. There were no significant associations between the mutational status and HPV status (74% WT and 68% MUT were HPV (+); p = 0.489) or overall survival (OS) (3-year OS: WT 54% and MUT 65%; p = 0.090). HPV status was the only factor significantly associated with both OS and disease-free survival (DFS), with HPV (+) patients having consistently better outcomes (3-year OS: HPV (+) 65% and HPV (-) 36%; p = 0.007; DFS HPV (+) 83% and HPV (-) 43%; p = 0.001). There was a statistically significant interaction effect between HPV status and PIK3CA mutation regarding DFS (Interaction test: p = 0.026). In HPV (+) patients, PIK3CA wild-type is associated with a significant 4.64 times increase in the hazard of recurrence or death (HR = 4.64; 95% CI 1.02-20.99; p = 0.047). Overall, PIK3CA gene mutations are present in a large number of patients and may help define patient subsets who can benefit from therapies targeting the PI3K pathway. The systematic assessment of PIK3CA gene mutations in HNSCC patients will require further methodological standardisation.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNCochicho, DanielaEsteves, SusanaRito, MiguelSilva, FernandaMartins, LuísMontalvão, PedroCunha, MárioMagalhães, MiguelGil da Costa, Rui MFelix, Ana2022-03-15T23:23:08Z2022-03-022022-03-02T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/134571eng2072-6694PURE: 42383214https://doi.org/10.3390/cancers14051286info: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:RCAAP2024-03-11T05:13:01Zoai:run.unl.pt:10362/134571Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:48:10.051931Repositório 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 PIK3CA Gene Mutations in HNSCC
Systematic Review and Correlations with HPV Status and Patient Survival
title PIK3CA Gene Mutations in HNSCC
spellingShingle PIK3CA Gene Mutations in HNSCC
Cochicho, Daniela
SDG 3 - Good Health and Well-being
title_short PIK3CA Gene Mutations in HNSCC
title_full PIK3CA Gene Mutations in HNSCC
title_fullStr PIK3CA Gene Mutations in HNSCC
title_full_unstemmed PIK3CA Gene Mutations in HNSCC
title_sort PIK3CA Gene Mutations in HNSCC
author Cochicho, Daniela
author_facet Cochicho, Daniela
Esteves, Susana
Rito, Miguel
Silva, Fernanda
Martins, Luís
Montalvão, Pedro
Cunha, Mário
Magalhães, Miguel
Gil da Costa, Rui M
Felix, Ana
author_role author
author2 Esteves, Susana
Rito, Miguel
Silva, Fernanda
Martins, Luís
Montalvão, Pedro
Cunha, Mário
Magalhães, Miguel
Gil da Costa, Rui M
Felix, Ana
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
RUN
dc.contributor.author.fl_str_mv Cochicho, Daniela
Esteves, Susana
Rito, Miguel
Silva, Fernanda
Martins, Luís
Montalvão, Pedro
Cunha, Mário
Magalhães, Miguel
Gil da Costa, Rui M
Felix, Ana
dc.subject.por.fl_str_mv SDG 3 - Good Health and Well-being
topic SDG 3 - Good Health and Well-being
description Funding: This study was financially supported by the Virology Laboratory from the Pathology Department of the Portuguese Oncology Institute of Lisboa IUIC/1168, with contributions by the Research Center of the Portuguese Oncology Institute of Porto (project no. PI86-CI-IPOP-66-2017), by Base Funding-UIDB/00511/2020 of the Laboratory for Process Engineering, Environment, Biotechnology, and Energy—LEPABE—funded by national funds through the FCT/MCTES (PIDDAC), and Project 2SMART-engineered Smart materials for Smart citizens, with reference NORTE-01- 0145-FEDER-000054, supported by Norte Portugal Regional Operational Programme (NORTE 2020) under the PORTUGAL 2020 Partnership Agreement through the European Regional Development Fund (ERDF).
publishDate 2022
dc.date.none.fl_str_mv 2022-03-15T23:23:08Z
2022-03-02
2022-03-02T00:00:00Z
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/10362/134571
url http://hdl.handle.net/10362/134571
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2072-6694
PURE: 42383214
https://doi.org/10.3390/cancers14051286
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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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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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