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Clinical efficacy of a next-generation sequencing (NGS) and immunohistochemistry (IHC) panel in patients with advanced cancer in Argentina.

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dc.contributor.author Cantarella, Florencia
dc.contributor.author Mendoza Bertelli, Andrea
dc.contributor.author Girotti, Romina
dc.contributor.author Marino, Ana Clara
dc.contributor.author Brest, Esteban
dc.contributor.author Dibarbora, Delfina
dc.contributor.author Mahmoud, Yamil
dc.contributor.author Veigas, Florencia
dc.contributor.author Enrico, Diego Hernan
dc.contributor.author Tsou, Florencia
dc.contributor.author Lacava, Juan A.
dc.contributor.author Piazzoni, Luciano
dc.contributor.author Riso, Aldo Alejandro
dc.contributor.author Martinengo, Gastón L.
dc.contributor.author Rodriguez, Andrés
dc.contributor.author Beguelin, Zenon
dc.contributor.author Cerrato, Sebastián
dc.contributor.author Jerez, Ignacio
dc.contributor.author Salanova, Rubén
dc.date.accessioned 2024-07-12T14:26:22Z
dc.date.available 2024-07-12T14:26:22Z
dc.date.issued 2024-05-29
dc.identifier.citation Cantarella F, Mendoza Bertelli A, Girotti R, Marino A, Brest E, Dibarbora D, et al. Clinical efficacy of a next-generation sequencing (NGS) and immunohistochemistry (IHC) panel in patients with advanced cancer in Argentina. Journal of Clinical Oncology. 2024;42(16_suppl):e15154-e15154. es_ES
dc.identifier.uri https://ascopubs.org/doi/pdf/10.1200/JCO.2024.42.16_suppl.e15154
dc.identifier.uri https://repositorio.fleni.org.ar/xmlui/handle/123456789/1145
dc.description.abstract Background: The analysis of somatic genomic alterations, evaluation of DNA mismatch repair (MMR) proteins, and examination of PD-L1 expression in tumor biopsies are crucial for prognosis and informed therapeutic decisions. However, their clinical implementation in Argentina faces challenges due to economic costs and lack of evidence. To address this, we conducted a retrospective study to assess the impact of this molecular panel testing on treatment decisions and clinical management of cancer patients in Argentina. Additionally, we evaluated its ability to detect clinically relevant alterations and analyzed the frequency and cooccurrence of mutations in our cohort. Methods: Tumor tissue samples from 266 patients with primary tumors, representing 26 different anatomical sites (53% lung cancer), underwent molecular testing using the Optimus panel developed by Biomakers. The assay integrates somatic sequencing of 52 genes through NGS with IHC assessment ofMMRand PD-L1 proteins. A retrospective evaluation of the clinical effectiveness of the test was conducted on 133 patients. Genomic and clinical data were analyzed usingRwith the pairwise Fisher’s exact test applied for statistical analysis. Results: This panel facilitates molecular characterization, identifying clinically relevant genetic alterations in 65% of patients and detecting deficiency in MMR proteins in 3%. Findings align with global clinical trial availability for identified alterations in 97% of cases. KRAS is the most frequently mutated gene (38%), followed by EGFR (19%), PIK3CA (12%), BRAF (9%), CDK4, and CTNNB1 (5% each), correlating with lung cancer overrepresentation. Simultaneous alterations in EGFR, PIK3CA, CTNNB1, and KIT genes were observed. Pan-tumoral interaction analysis revealed mutual exclusivity between KRAS mutations and those in EGFR, BRAF, CDK4, and CTNNB1. CTNNB1 mutations co-occurred with EGFR mutations, akin to KIT and PDGFRA (p,0.05). The retrospective analysis indicated that the Optimus panel contributed to clinical management of patients in 56% of cases, with 85% detecting clinically relevant variants, aiding treatment definition in 74% of these cases. Conclusions: The Biomakers-developed Optimus panel empowers the molecular characterization of genomic and proteomic biomarkers across tumor types. Its significance in clinical practice lies in contribution to vital decision-making processes, particularly in treatment selection. es_ES
dc.language.iso eng es_ES
dc.publisher American Society of Clinical Oncology es_ES
dc.rights info:eu-repo/semantics/openAccess
dc.subject Argentina es_ES
dc.subject Biopsia es_ES
dc.subject Biopsy es_ES
dc.subject Neoplasms es_ES
dc.subject Neoplasias es_ES
dc.subject Biomarcadores de Tumor es_ES
dc.subject Biomarkers, Tumor es_ES
dc.title Clinical efficacy of a next-generation sequencing (NGS) and immunohistochemistry (IHC) panel in patients with advanced cancer in Argentina. es_ES
dc.type Presentation es_ES
dc.type info:eu-repo/semantics/publishedVersion
dc.description.fil Fil: Cerrato, Sebastián. Fleni. Departamento de Neurología. Servicio de Neurooncología; Argentina.
dc.relation.ispartofVOLUME 42
dc.relation.ispartofNUMBER 16 supp
dc.relation.ispartofPAGINATION e15154
dc.relation.ispartofCOUNTRY Estados Unidos
dc.relation.ispartofCITY Alexandría
dc.relation.ispartofTITLE Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
dc.relation.ispartofISSN 1527-7755
dc.type.snrd Presentation es_ES


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