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PIK3CA Gene Mutations in HNSCC

2022-03-02Artigo científico Acesso aberto
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dc.contributor.authorCochicho, Daniela
dc.contributor.authorEsteves, Susana
dc.contributor.authorRito, Miguel
dc.contributor.authorSilva, Fernanda
dc.contributor.authorMartins, Luís
dc.contributor.authorMontalvão, Pedro
dc.contributor.authorCunha, Mário
dc.contributor.authorMagalhães, Miguel
dc.contributor.authorGil da Costa, Rui M
dc.contributor.authorFelix, Ana
dc.contributor.authorFelix, Ana
dc.contributor.institutionNOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
dc.contributor.pblMDPI - Multidisciplinary Digital Publishing Institute
dc.date.accessioned2022-03-15T23:23:08Z
dc.date.available2022-03-15T23:23:08Z
dc.date.issued2022-03-02
dc.descriptionFunding: 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).
dc.description.abstractPIK3CA 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.en
dc.description.versionpublishersversion
dc.description.versionpublished
dc.format.extent2015355
dc.identifier.doi10.3390/cancers14051286
dc.identifier.issn2072-6694
dc.identifier.otherPURE: 42383214
dc.identifier.otherPURE UUID: 4e7d02a8-9efb-4790-893e-4990ba2b7048
dc.identifier.otherPubMed: 35267596
dc.identifier.otherPubMedCentral: PMC8909011
dc.identifier.otherORCID: /0000-0002-2653-2262/work/109914486
dc.identifier.otherScopus: 85125940370
dc.identifier.otherWOS: 000773498400001
dc.identifier.urihttp://hdl.handle.net/10362/134571
dc.language.isoeng
dc.peerreviewedyes
dc.subjectSDG 3 - Good Health and Well-being
dc.titlePIK3CA Gene Mutations in HNSCCen
dc.title.subtitleSystematic Review and Correlations with HPV Status and Patient Survivalen
dc.typejournal article
degois.publication.issue5
degois.publication.titleCancers
degois.publication.volume14
dspace.entity.typePublication
person.familyNameFelix
person.givenNameAna
person.identifier.ciencia-idA617-A56B-6FC6
person.identifier.orcid0000-0002-2653-2262
person.identifier.scopus-author-id55574221034
rcaap.rightsopenAccess
relation.isAuthorOfPublicatione267d7fd-7e65-4533-9f0a-6fceabcf4b7b
relation.isAuthorOfPublication.latestForDiscoverye267d7fd-7e65-4533-9f0a-6fceabcf4b7b

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