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Exploring the clinical benefits of genomic profiling for advanced solid tumors in Portugal.

2025-06Artigo científico Acesso restrito
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dc.contributor.authorTavares, Nuno
dc.contributor.authorDamaso, Sara
dc.contributor.authorBrás, Raquel Lopes
dc.contributor.authorGuedes, Helena
dc.contributor.authorSimões, Pedro
dc.contributor.authorRodrigues, Tania
dc.contributor.authorCosta, Diogo Alpuim
dc.contributor.authorBonito, Nuno Antunes
dc.contributor.authorPratas, Edgar
dc.contributor.authorMacedo, Daniela
dc.contributor.authorFilipe, Frederico Ferreira
dc.contributor.authorMartins Cavaco, Ana Cláudia
dc.contributor.authorPavanello, Marina
dc.contributor.authorCosta, Luis
dc.date.accessioned2026-03-20T11:14:41Z
dc.date.available2026-03-20T11:14:41Z
dc.date.issued2025-06
dc.description.abstractBackground: Comprehensive genomic profiling (CGP) plays a significant role in precision oncology by pairing genomic alterations from different tumor types with molecularly targeted therapies. However, the evaluation of its real-world impact, clinical utility, and effects on quality of life remain unexplored. The FRONTAL study (Foundation medicine Real wOrld evideNce in porTugAL) is an ongoing multicentric academic study that aims to establish a national registry of portuguese patients with solid tumors that underwent CGP through Foundation Medicine tests (FoundationOne CDx, Liquid CDx, and Heme). Methods: The study enrolled portuguese patients diagnosed with advanced solid tumors who were not eligible for curative treatment at the time of recruitment. Patients who had previously done CGP evaluation could be included if the test was conducted within one year before the start of the study. CGP data was retrieved from the Foundation Medicine reports and clinical data from the medical records. Actionable genomic findings were reported if associated to therapies for the patient’s tumor type or with proven clinical benefit in other tumor types based on the NCCN Categories of Evidence and Consensus. In addition, quality of life questionnaires (QLQ-C30) were collected for a subset of patients. The primary outcome was a binary endpoint of disease control at 16 weeks of treatment, defined by the absence of progression at that timepoint. Results: Genomic and real-world clinical data were collected and analyzed for 146 patients ( . 70% of the cohort), from 10 different sites in Portugal. Several cancer types were included, with colorectal tumors being the most common (19%), followed by sarcomas (18%) and pancreatic tumors (12%). According to the Foundation Medicine reports, actionable molecular alterations were described in 52% of the cohort. Twenty-three percent of the patients had their therapeutic decision changed due to the CGP result. The most frequent alterations among these patients included high tumor mutational burden (TMB) and/or microsatellite instability (MSI) (35%), as well as pathogenic mutations in PIK3CA (15%) and ATM (12%). Forty-three percent of patients with changed therapy were reported to have achieved disease control at 16 weeks of treatment. Half of the patients with disease control had either high TMB, MSI, or BRAF mutations, reinforcing that evaluating actionable alterations with tissue-agnostic FDA approvals benefit oncology patients. Conclusions: The FRONTAL study highlights the clinical utility of CGP in advanced solid tumors. We identified actionable alterations in 52% of patients, leading to changes in treatment for 23% of the cohort. These findings support the value of CGP in guiding personalized therapies and emphasize the need for further research into its impact on patient outcomes and quality of life. Research Sponsor: None.eng
dc.identifier.doi10.1200/jco.2025.43.16_suppl.e23273
dc.identifier.eissn1527-7755
dc.identifier.issn0732-183X
dc.identifier.urihttp://hdl.handle.net/10400.1/28491
dc.language.isoeng
dc.peerreviewedyes
dc.publisherAmerican Society of Clinical Oncology (ASCO)
dc.relation.ispartofJournal of Clinical Oncology
dc.rights.uriN/A
dc.titleExploring the clinical benefits of genomic profiling for advanced solid tumors in Portugal.eng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue16_suppl
oaire.citation.titleJournal of Clinical Oncology
oaire.citation.volume43
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameMartins Cavaco
person.givenNameAna Cláudia
person.identifier.orcid0000-0002-0642-1979
relation.isAuthorOfPublication84ee62df-e553-44f2-9336-ab736f501793
relation.isAuthorOfPublication.latestForDiscovery84ee62df-e553-44f2-9336-ab736f501793

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