Browsing by Author "Torres, Javiera"
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Item A Molecular Stratification of Chilean Gastric Cancer Patients with Potential Clinical Applicability(MDPI, Basel Sz., 2020) Pinto, Mauricio; Córdova-Delgado, Miguel; Retamal, Ignacio; Muñoz-Medel, Matías; Bravo, Loreto; Durán, Doris; Villanueva, Francisco; Sánchez, César; Acevedo, Francisco; Mondaca, Sebastián; Érica, Koch; Ibáñez, Carolina; Galindo, Héctor; Madrid, Jorge; Nervi, Bruno; Peña, José; Torres, Javiera; Garrido, Marcelo; Owen, Gareth I.; Corvalán, Alejandro H.; Armisén, RicardoGastric cancer (GC) is a complex and heterogeneous disease. In recent decades, The Cancer Genome Atlas (TCGA) and the Asian Cancer Research Group (ACRG) defined GC molecular subtypes. Unfortunately, these systems require high-cost and complex techniques and consequently their impact in the clinic has remained limited. Additionally, most of these studies are based on European, Asian, or North American GC cohorts. Herein, we report a molecular classification of Chilean GC patients into five subtypes, based on immunohistochemical (IHC) and in situ hybridization (ISH) methods. These were Epstein–Barr virus positive (EBV+), mismatch repair-deficient (MMR-D), epithelial to mesenchymal transition (EMT)-like, and accumulated (p53+) or undetected p53 (p53−). Given its lower costs this system has the potential for clinical applicability. Our results confirm relevant molecular alterations previously reported by TCGA and ACRG. We confirm EBV+ and MMR-D patients had the best prognosis and could be candidates for immunotherapy. Conversely, EMT-like displayed the poorest prognosis; our data suggest FGFR2 or KRAS could serve as potential actionable targets for these patients. Finally, we propose a low-cost step-by-step stratification system for GC patients. To the best of our knowledge, this is the first Latin American report on a molecular classification for GC. Pending further validation, this stratification system could be implemented into the routine clinicPublication Caracterización del perfil epidemiológico, patológico, radiológico y de manejo de los pacientes con tumores estromales del tubo digestivo. Experiencia chilena de cinco años(2024) Schiappacasse, Giancarlo; Cocio, Rolando; Cristi, J.; Torres, Javiera; Aliaga, Francisca; Vial, Macarena; Hepp, Juan; Castiblanco, AdrianaIntroducción y objetivos Los tumores del estroma gastrointestinal (GIST) son las neoplasias mesenquimáticas más frecuentes del tubo digestivo y su expresión y manejo dependen de su agresividad. Nuestro objetivo es caracterizar los GIST diagnosticados en nuestro centro, a partir de variables epidemiológicas, anatomopatológicas, imagenológicas y de manejo. Material y métodos Estudio observacional de cohorte retrospectiva en pacientes adultos con diagnóstico de GIST mediante imágenes y biopsia entre los años 2017 y 2022 en nuestro centro, caracterizando datos epidemiológicos, imagenológicos, de anatomía patológica y terapéuticos. Resultados Se incluyeron 33 pacientes, promedio de edad 59 años. La mayoría fue un hallazgo incidental (54.5%) y de los sintomáticos, lo más frecuente fue hemorragia digestiva (24%). La ubicación más frecuente fue el estómago (19/33 casos) y su forma de presentación exofítica fue la más habitual (48.5%). Imagenológicamente, su impregnación fue mayormente heterogénea y progresiva y 54% presentaron alguna característica intrínseca, siendo la necrosis/áreas quísticas lo más frecuente, sin casos de invasión local ni diseminación a distancia. Histológicamente la variante fusada fue la más frecuente (78.8%) y la mayoría presentaron menos de cinco mitosis por campo mayor. En nuestro recinto, 30 casos fueron tratados, siendo la cirugía la forma de resolución más frecuente (29/30). No se registraron muertos a causa de GIST en nuestra serie. Conclusiones Nuestra serie tiene características epidemiológicas e imagenológicas similares a la literatura, diferenciándose por un diagnóstico precoz y baja agresividad de los casos. Introduction and aims Gastrointestinal stromal tumors (GISTs) are the most frequent mesenchymal neoplastic tumors of the gastrointestinal tract and their expression and management is dependent on their aggressivity. Our aim was to characterize the GISTs diagnosed at our center, analyzing the epidemiologic, anatomopathologic, imaging study, and management variables. Material and methods A retrospective, observational cohort study was conducted on adult patients diagnosed with GIST through imaging studies and biopsy, within the time frame of 2017 and 2022 at our center, characterizing the epidemiologic, imaging study, anatomopathologic, and therapeutic data. Results Thirty-three patients with a mean age of 59 years were included. The majority of cases were incidental findings (54.5%), and of the symptomatic cases, the most frequent presentation was gastrointestinal bleeding (24%). The most common location was the stomach (19/33 cases), and the most frequent presentation was exophytic (48.5%). In the imaging studies, impregnation was mainly heterogeneous and progressive and 54% had an intrinsic characteristic, with necrosis/cystic areas the most frequent feature. There were no cases of local invasion or distant metastasis. Histologically, the spindle cell type was the most frequent (78.8%) and the majority had fewer than 5 mitoses per high power field. Thirty cases were treated at our center and surgery was the most frequent form of resolution (29/30). No deaths caused by GIST were registered in our case series. Conclusions The epidemiologic and imaging study characteristics in our case series were similar to those reported in the literature, but our results were different, with respect to early diagnosis and the low aggressivity of the cases.Item Esofagitis eosinofílica: diagnóstico y manejo(2021) Ballart, María Jesús; Monrroy, Hugo; Iruretagoyena, Mirentxu; Parada, Alejandra; Torres, Javiera; Espino, AlbertoEosinophilic esophagitis (EoE) is a chronic, immune-mediated disease, induced by food allergens, clinically characterized by symptoms of esophageal dysfunction. Pathologically there is a predominant eosinophilic inflammation. This disease is relatively new, and its definitions have evolved over time. Its prevalence and incidence are increasing and causes clinical problems both in children and adults. Its symptoms include food impaction, dysphagia, symptoms that resemble gastroesophageal reflux, abdominal pain, and vomiting. It can also have extra-digestive symptoms such as rhinosinusitis, chronic cough, recurrent croup and hoarseness. EoE can be associated with other atopic conditions, such as asthma, eczema and food allergies. The diagnosis is made by the analysis of endoscopic biopsies (> 15 eosinophils per high power field). Proton pump inhibitors (PPIs) are currently accepted as a treatment for EoE. The clinical and pathological improvement with the use PPIs ceased to be a criterion to define Esophageal eosinophilia responsive to PPIs as a differential diagnosis, since this condition is currently considered within the EoE spectrum. There are three main treatment approaches for EoE: diet, drugs and dilation. Its diagnosis and early treatment are key to avoid or delay its complications, such as stenosis and severe esophageal dysfunction.Item Esofagitis eosinofílica: diagnóstico y manejo(2020) Ballart, María Jesús; Monrroy, Hugo; Iruretagoyena, Mirentxu; Parada, Alejandra; Torres, Javiera; Espino, Albertoinduced by food allergens, clinically characterized by symptoms of esophageal dysfunction. Pathologically there is a predominant eosinophilic inflammation. This disease is relatively new, and its definitions have evolved over time. Its prevalence and incidence are increasing and causes clinical problems both in children and adults. Its symptoms include food impaction, dysphagia, symptoms that resemble gastroesophageal reflux, abdominal pain, and vomiting. It can also have extra-digestive symptoms such as rhinosinusitis, chronic cough, recurrent croup and hoarseness. EoE can be associated with other atopic conditions, such as asthma, eczema and food allergies. The diagnosis is made by the analysis of endoscopic biopsies (> 15 eosinophils per high power field). Proton pump inhibitors (PPIs) are currently accepted as a treatment for EoE. The clinical and pathological improvement with the use PPIs ceased to be a criterion to define Esophageal eosinophilia responsive to PPIs as a differential diagnosis, since this condition is currently considered within the EoE spectrum. There are three main treatment approaches for EoE: diet, drugs and dilation. Its diagnosis and early treatment are key to avoid or delay its complications, such as stenosis and severe esophageal dysfunction.