https://repositorio.fleni.org.ar/xmlui/handle/123456789/38 Sun, 05 Apr 2026 19:25:09 GMT 2026-04-05T19:25:09Z https://repositorio.fleni.org.ar/xmlui/handle/123456789/995 Análisis del valor diagnóstico de la metilomica en tumores cerebrales primarios de una única institución Yorio, Florencia; Cerrato, Sebastián; Calabrese, Bernadette; Palomar, Nicolás; Cardoso, Agustín; Arakaki, Naomi; Martinetto, Horacio; Diez, Blanca; Muggeri, Alejandro Introducción: Existen importantes discrepancias en el diagnóstico histopatológico de los aproximadamente 100 tipos de tumores cerebrales primarios. En los últimos años se han incorporado técnicas como la biología molecular y más recientemente el análisis del perfil de metilación de ADN (metilómica) que permitiría alcanzar un diagnóstico más preciso. Objetivos: Determinar el valor diagnóstico de la metilómica en tumores primarios del sistema nervioso central. Materiales y métodos: se realizó un análisis retrospectivo comparando el diagnóstico convencional aportado por informes de anatomía patológica con el diagnóstico proporcionado por un clasificador online basado en perfiles de metilación de ADN (según este clasificador un score de coincidencia ≥0.9 sugiere diagnóstico de certeza del tipo/subtipo tumoral). Se evaluaron 119 pacientes con tumores cerebrales primarios tratados en nuestra institución, desde Marzo 2019 a Febrero 2023. Se incluyeron pacientes de todas las edades. Resultados: Noventa y uno de 119 pacientes (76%) tuvieron un score > 0,9 por análisis metilómico. En 86/119 pacientes (72%) hubo coincidencia entre el diagnostico histopatológico y el análisis por perfil de metilación. En 5/119 pacientes (4%) hubo discrepancia entre la clasificación por perfil de metilación y el análisis histopatológico. En pacientes sin diagnóstico histopatológico preciso, 10/22 tuvieron score >0,9 por metilómica. Es decir, en un 47% de los casos con dificultades para arribar a un diagnóstico histopatológico, la metilación de ADN permitió realizar un diagnóstico preciso. En los casos de Meduloblastoma, la coincidencia patología-metilómica fue del 100% aunque se observó un 28% de error diagnóstico cuando se utilizó sólo la IHQ para determinar el subtipo molecular. Conclusiones: Un adecuado seguimiento y tratamiento oncológico requiere de un correcto diagnóstico inicial. El perfil de metilación de ADN en tumores primarios del sistema nervioso central provee una nueva herramienta que aporta información relevante para obtener un diagnóstico aun en los casos en que el análisis histopatológico no es concluyente. Fri, 15 Dec 2023 00:00:00 GMT https://repositorio.fleni.org.ar/xmlui/handle/123456789/995 2023-12-15T00:00:00Z https://repositorio.fleni.org.ar/xmlui/handle/123456789/767 Characteristics of children ≤36 months of age with DIPG: A report from the international DIPG registry Bartlett, Allison L.; Lane, Adam; Chaney, Brooklyn; Yanez Escorza, Nancy; Black, Katie; Cochrane, Anne; Minturn, Jane; Bartels, Ute; Warren, Kathy; Hansford, Jordan; Ziegler, David; Diez, Blanca; Goldman, Stewart; Packer, Roger; Kieran, Mark; DeWire-Schottmiller, Mariko; Erker, Craig; Monje-Deisseroth, Michelle; Wagner, Lars; Koschmann, Carl Background: Children ≤36 months with diffuse intrinsic pontine glioma (DIPG) have increased long-term survival (LTS, overall survival (OS) ≥24 months). Understanding distinguishing characteristics in this population is critical to improving outcomes. Methods: Patients ≤36 months at diagnosis enrolled on the International DIPG Registry (IDIPGR) with central imaging confirmation were included. Presentation, clinical course, imaging, pathology and molecular findings were analyzed. Results: Among 1183 patients in IDIPGR, 40 were eligible (median age: 29 months). Median OS was 15 months. Twelve patients (30%) were LTS, 3 (7.5%) very long-term survivors ≥5 years. Among 8 untreated patients, median OS was 2 months. Patients enrolled in the registry but excluded from our study by central radiology review or tissue diagnosis had median OS of 7 months. All but 1 LTS received radiation. Among 32 treated patients, 1-, 2-, 3-, and 5-year OS rates were 68.8%, 31.2%, 15.6% and 12.5%, respectively. LTS had longer duration of presenting symptoms (P = .018). No imaging features were predictive of outcome. Tissue and genomic data were available in 18 (45%) and 10 patients, respectively. Among 9 with known H3K27M status, 6 had a mutation. Conclusions: Children ≤36 months demonstrated significantly more LTS, with an improved median OS of 15 months; 92% of LTS received radiation. Median OS in untreated children was 2 months, compared to 17 months for treated children. LTS had longer duration of symptoms. Excluded patients demonstrated a lower OS, contradicting the hypothesis that children ≤36 months with DIPG show improved outcomes due to misdiagnosis. Thu, 01 Dec 2022 00:00:00 GMT https://repositorio.fleni.org.ar/xmlui/handle/123456789/767 2022-12-01T00:00:00Z https://repositorio.fleni.org.ar/xmlui/handle/123456789/707 Final results of the Choroid Plexus Tumor study CPT-SIOP-2000 Wolff, Johannes E.; Van Gool, Stefaan W.; Kutluk, Tezer; Diez, Blanca; Kebudi, Rejin; Timmermann, Beate; Garami, Miklos; Sterba, Jaroslav; Fuller, Gregory N.; Bison, Brigitte; Kordes, Uwe R. Introduction: Standards for chemotherapy against choroid plexus tumors (CPT) have not yet been established. Methods: CPT-SIOP-2000 (NCT00500890) was an international registry for all CPT nesting a chemotherapy randomization for high-risk CPT with Carboplatin/Etoposide/Vincristine (CarbEV) versus Cyclophosphamide/Etoposide/Vincristine (CycEV). Patients older than three years were recommended to receive irradiation: focal fields for non-metastatic CPC, incompletely resected atypical choroid plexus papilloma (APP) or metastatic choroid plexus papilloma (CPP); craniospinal fields for metastatic CPC/APP and non-responsive CPC. High risk was defined as choroid plexus carcinoma (CPC), incompletely resected APP, and all metastatic CPT. From 2000 until 2010, 158 CPT patients from 23 countries were enrolled. Results: For randomized CPC, the 5/10 year progression free survival (PFS) of patients on CarbEV (n = 20) were 62%/47%, respectively, compared to 27%/18%, on CycEV (n = 15), (intention-to-treat, HR 2.6, p = 0.032). Within the registry, histological grading was the most influential prognostic factor: for CPP (n = 55) the 5/10 year overall survival (OS) and the event free survival (EFS) probabilities were 100%/97% and 92%/92%, respectively; for APP (n = 49) 96%/96% and 76%/76%, respectively; and for CPC (n = 54) 65%/51% and 41%/39%, respectively. Without irradiation, 12 out of 33 patients with CPC younger than three years were alive for a median of 8.52 years. Extent of surgery and metastases were not independent prognosticators. Conclusions: Chemotherapy for Choroid Plexus Carcinoma is feasible and effective. CarbEV is superior to CycEV. A subset of CPC can be cured without irradiation. Tue, 01 Feb 2022 00:00:00 GMT https://repositorio.fleni.org.ar/xmlui/handle/123456789/707 2022-02-01T00:00:00Z https://repositorio.fleni.org.ar/xmlui/handle/123456789/678 Manejo de lesiones incidentales de la glándula pineal Muggeri, Alejandro; Calabrese, Bernadette; Yorio, Florencia; Cerrato, Sebastián; Diez, Blanca Mon, 12 Sep 2022 00:00:00 GMT https://repositorio.fleni.org.ar/xmlui/handle/123456789/678 2022-09-12T00:00:00Z