ImpactU Versión 3.11.2 Última actualización: Interfaz de Usuario: 16/10/2025 Base de Datos: 29/08/2025 Hecho en Colombia
Clasificación de una serie de meduloblastomas en grupos genéticamente definidos por medio de un panel de inmunohistoquímica en pacientes de un hospital pediátrico
Introduction: Medulloblastoma (MB) is the most frequent embryonal tumor of the central nervous system in the pediatric population. It is a highly aggressive malignant neoplasm with mortality rates. Genetically it is heterogeneous, with genomic alterations that affect proteins of the signaling pathways of normal brain development, which have allowed them to be classified by the World Health Organization (2016) into four genetically defined subgroups: WNT, SHH, Group 3 and Group. Objective: To evaluate the clinical characteristics, the morphological variant and the expression of proteins involved in the pathogenesis of medulloblastoma in samples obtained from patients with a diagnosis of medulloblastoma at the Hospital Fundación de la Misericordia during the period between 2009 and 2017. Methodology: A total of 49 cases with a diagnosis of medulloblastoma were studied, which underwent six immunohistochemical markers of proteins related to the signaling pathways of the genetically defined groups (Betacatenin, YAP1, PIGU, OTX2, NGFR5 and p53) and its molecular classification and clinical characterization were carried out. Results: 49 patients with histopathological diagnosis of medulloblastoma were included. 5 subgroups were identified: WNT group with 1 patient, SHH group with Mutated p53 with 10 patients, SHH group with wild-type p53 with 22 patients, group 3/4 with 15 patients and one patient in Indefinite group. The average age was 6.9 ± 3.6 years, 57.1% were female. The most frequent location was the cerebellar vermis (34.7%), followed by the IV ventricle (24.5%). In all the genetically defined subgroups, the most frequent variant was the classic one. When analyzing the immunohistochemical studies, it was found that in the WNT the patient had nuclear and cytoplasmic reactivity greater than 5% of the tumor cells for Betacatenin, and nuclear reactivity of YAP1. In the SHH group with mutated p53, 70% presented reactivity for PIGU, 100% presented nuclear reactivity greater than 50% for p53, 80% nuclear reactivity and cytoplasm for YAP1 and 60% cytoplasmic reactivity for p75NTR. In the SHH group with wild-type p53, 54.5% for PIGU, 77.3% showed no reactivity for p53, 59.1% showed nuclear and cytoplasmic reactivity for YAP1. In group 3/4, 60% had cytoplasmic reactivity for Betacatenin and all presented nuclear reactivity greater than 10% of tumor cells for OTX2. Conclusion: Our study will allow us to characterize clinically and morphologically medulloblastomas in the pediatric population of a national referral hospital. The immunohistochemistry panel that we used included classifying medulloblastomas in a practical and cost effective manner. However, to ensure a reliable classification it is necessary to perform the complete immunohistochemical panel.