Proteogenomic analysis in an early onset diffuse gastric cancer patient revealed alterations in PIK3R1, TP53, SMAD4 and a potential role of the PI3K-AKT and EGFR pathways: a case report

Simple item page
dc.contributor.authorCordova-Delgado, Miguel
dc.contributor.authorPinto, Mauricio P.
dc.contributor.authorPizarro, Gonzalo
dc.contributor.authorKoch, Elard
dc.contributor.authorVargas, Cristian
dc.contributor.authorHernandez, Mauricio
dc.contributor.authorNourdin, Guillermo
dc.contributor.authorSaldivia, Pablo
dc.contributor.authorPaz Rodriguez, Maria Z.
dc.contributor.authorBerkovits, Alejandro
dc.contributor.authorManque, Patricio
dc.contributor.authorRios, Juvenal A.
dc.contributor.authorGarcia-Bloj, Benjamin
dc.contributor.authorGarrido, Marcelo
dc.date.accessioned2025-01-20T21:05:45Z
dc.date.available2025-01-20T21:05:45Z
dc.date.issued2022
dc.description.abstractBackground: Early-onset gastric cancers (EOGC) are poor prognosis hard-to treat malignancies that affect young individuals (<45 years old). Case Description: Herein we describe the case of a 26-year-old female EOGC patient that initially displayed stable disease after first-line CAPOX plus immunotherapy. However, patient eventually developed progressive disease and was consecutively switched to paclitaxel plus ramucirumab, and palliative irinotecan. In search for therapeutic alternatives a proteo-genomic analysis was performed in a tissue biopsy taken after the first progression. Our analyses found a total of 18 somatic mutations, including TP53 and PIK3R1, and a previously unreported germline alteration in the tumor suppressor SMAD4. Also, our proteomic analysis found 62 proteins previously documented as ???enriched in stomach cancer??? and AKT/mTOR and EGFR as pathways with therapeutic potential. Unfortunately, the clinical utility of AKT/mTOR inhibitors or EGFR targeted therapies could not be assessed. Conclusions: As explained above EOGC is a growing health concern that affects young individuals. Furthermore, the reported case displayed a poor response to standard therapy including checkpoint inhibitors and chemotherapy despite the presence of biomarkers that predict a favorable outcome. Future studies should adopt alternative approaches to find novel, more effective therapies.
dc.fuente.origenWOS
dc.identifier.doi10.21037/jgo-21-780
dc.identifier.eissn2219-679X
dc.identifier.issn2078-6891
dc.identifier.urihttps://doi.org/10.21037/jgo-21-780
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/93319
dc.identifier.wosidWOS:000810603500001
dc.language.isoen
dc.revistaJournal of gastrointestinal oncology
dc.rightsacceso restringido
dc.subjectProteogenomics
dc.subjectearly onset gastric cancer
dc.subjectSMAD4
dc.subjectcase report
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleProteogenomic analysis in an early onset diffuse gastric cancer patient revealed alterations in PIK3R1, TP53, SMAD4 and a potential role of the PI3K-AKT and EGFR pathways: a case report
dc.typeartículo
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
Files
Collections
Artículos de revistas