Pediatric Brain Tumors

This multicenter observational cohort study aims to develop and validate an artificial intelligence (AI)-assisted diagnostic system for preoperative molecular subtyping of pediatric brain tumors using routine magnetic resonance imaging (MRI). The study will include seven major pediatric brain tumor categories: glioma, medulloblastoma, ependymoma, atypical teratoid/rhabdoid tumor (AT/RT), intracranial germ cell tumors, craniopharyngioma, and choroid plexus tumors. The study includes a retrospective cohort for model development and internal/external validation, and a prospective cohort for further validation. Retrospective data will be collected from pediatric patients who underwent first surgical treatment between January 1, 2020 and December 31, 2025. Prospective enrollment will begin on July 15, 2026, with an anticipated sample size of 150 participants. The AI system will analyze preoperative MRI sequences, including T1-weighted, contrast-enhanced T1-weighted, T2-weighted, and FLAIR images, to predict key molecular markers and integrated diagnostic categories. The primary objective is to evaluate the diagnostic performance of the AI system for prespecified molecular prediction tasks using postoperative histopathology and molecular testing as the reference standard. Secondary objectives include assessing agreement with integrated diagnosis, comparing performance against blinded radiologists, and exploring prognostic associations of AI-predicted subgroups.

To evaluate the diagnostic performance of arterial spin labelling (ASL) magnetic resonance perfusion in preoperative grading of pediatric brain tumors.

Central nervous system tumours are the most common solid tumours and the leading cause of cancer mortality in children, with high biological and prognostic heterogeneity. Despite advances in the 2021 WHO molecular classifications, treatment options remain limited and often ineffective in high-grade tumours. New third-generation sequencing technologies and three-dimensional models derived from patient tumours offer promising tools for more comprehensive genomic characterisation and preclinical evaluation of drug responses. However, the lack of integrated preclinical studies remains a limitation, necessitating coordinated projects to develop personalised therapeutic strategies. The study aims to investigate the genetic and biological characteristics of paediatric brain tumours. To this end, tumour tissue samples taken during planned surgery and peripheral blood samples will be analysed. Advanced genetic analyses will be performed on these materials to identify tumour alterations and the patient's genetic characteristics. In addition, experimental in vitro models derived from the tumour will be developed to evaluate the response to different chemotherapy drugs. The information obtained will be used to better understand the mechanisms of tumour growth and resistance and to promote the future development of more targeted and personalised therapies.

The Johns Hopkins Pediatric Radiation Oncology Program is creating a registry that will capture the full 3D radiation dosimetry delivered to its pediatric patients to manage the quality of care provided, as well as to examine the long-term outcomes and toxicity of each patient. The registry will capture baseline clinical data, disease, toxicity, and quality of life outcomes. The goal is to include all pediatric patients undergoing proton therapy and photon therapy to enable future comparisons of treatment outcomes.