Germline loss-of-function variant in the E3 ubiquitin ligase TRAF2 in a young adult patient with medulloblastoma: a case report.

We identified a rare heterozygous germline loss-of-function variant in the tumor necrosis factor receptor-associated factor 2 (TRAF2) in a young adult patient diagnosed with medulloblastoma. This variant is located within the TRAF-C domain of the E3 ubiquitin ligase protein and is predicted to diminish the binding affinity of TRAF2 to upstream receptors and associated adaptor proteins. Integrative genomics revealed a biallelic loss of TRAF2 via partial copy-neutral loss-of-heterozygosity of 9q in the medulloblastoma genome.

A predictive model for cerebellar mutism syndrome based on lesion map in children with medulloblastoma.

Background: This study aimed to establish a voxel-based map to predict the occurrence of cerebellar mutism syndrome (CMS) and investigate the relationship between CMS and motor dysfunction.

Method: This multicenter study cohort included 224 patients diagnosed with medulloblastoma at Beijing Children's Hospital (n = 88) and Beijing Tiantan Hospital (n = 136). The dataset was randomly divided into training (n = 95), test (n = 41), and validation (n = 88) datasets.

Preclinical and Clinical-Scale Magnetic Particle Imaging of Natural Killer Cells: in vitro and ex vivo Demonstration of Cellular Sensitivity, Resolution, and Quantification.

Purpose: Clinical adoption of NK cell immunotherapy is underway for medulloblastoma and osteosarcoma, however there is currently little feedback on cell fate after administration. We propose magnetic particle imaging (MPI) may have applications for the quantitative detection of NK cells.

Procedures: Human-derived NK-92 cells were labeled by co-incubation with iron oxide nanoparticles (VivoTrax™) for 24 h then excess nanoparticles were washed with centrifugation.

Cytokine profile of cerebrospinal fluid in pediatric patients with metastatic medulloblastoma.

Background: Medulloblastoma (MB) is a malignant pediatric central nervous system tumor that is prone to leptomeningeal metastasis. Currently, apart from magnetic resonance imaging and cerebrospinal fluid (CSF) cytology, there are no reliable biomarkers for MB progression. Cytokines are key proteins in signaling pathways in the tumor microenvironment and are closely related to tumor recurrence and progression.

Pediatric Central Nervous System Embryonal Tumors: Presentation, Diagnosis, Therapeutic Strategies, and Survivorship-A Review.

Central nervous system (CNS) embryonal tumors represent a diverse group of neoplasms and have a peak incidence in early childhood. These tumors can be located anywhere within the CNS, and presenting symptoms typically represent tumor location. These tumors display distinctive findings on neuroimaging and are staged using magnetic resonance imaging of the brain and spine as well as evaluation of cerebrospinal fluid.

Response assessment in pediatric neurooncology (RAPNO) criteria revisited: a practical navigation guide for neuroradiologists.

The Response Assessment in Pediatric Neuro-Oncology (RAPNO) Working Group is an international, collaborative network of experts dedicated to pediatric central nervous system (CNS) tumors that was created in 2011. Since then, six RAPNO articles with imaging guidelines for response assessment in diverse pediatric tumor subgroups have been published, namely: 1) medulloblastomas and leptomeningeal seeding tumors (2018), 2) pediatric high-grade gliomas (2020), 3) pediatric low-grade gliomas (2020), 4) diffuse intrinsic pontine gliomas (2020), 5) pediatric intracranial ependymomas (2022) and 6) pediatric craniopharyngiomas (2023). The purpose of this article is to review all current available RAPNO criteria using a systematized and comparative approach centered on the role of neuroradiologists and supported by neuroimaging examples.

A Case Report on Radiation-Induced Cerebral Vasculopathy in a Long-Term Survivor of Childhood Medulloblastoma.

This case report discusses a patient diagnosed with radiation-induced cerebral vasculopathy who presented after cerebral irradiation of metastatic medulloblastoma to raise awareness of radiation-induced cerebral vasculopathy. Because radiation therapy has revolutionized treatment for children with brain cancers, radiation-induced vasculopathy is becoming ever more prominent, and its recognition is crucial to implementing early treatment strategies to improve patient outcomes. Currently, medical management is poorly defined, largely unexamined, and poorly studied.

Overcoming the limits of pediatric brain tumor radiotherapy: The use of preclinical 3D models.

Radiotherapy (RT) is an integral part of managing pediatric brain tumors, yet many patients develop tumor radioresistance, leading to recurrence and poor clinical outcomes. In addition, neurocognitive impairment is a common long-term side effect of RT, significantly impairing quality of life. Indeed, increasing evidence suggests that the developing child's brain is particularly vulnerable to the neurotoxic effects of ionizing radiation.

Central Hearing Loss in a Pediatric Patient.

Sensorineural hearing loss is typically caused by dysfunction of the inner ear or auditory nerve. In pediatric patients diagnosed with sensorineural hearing loss, work-up often includes genetic testing and imaging studies of the auditory pathway. Here, we report a case of a pediatric patient with a history of sensorineural hearing loss following cisplatin and radiation therapy for brainstem medulloblastoma, developing symptoms and signs of central hearing loss based on audiometric and MRI/diffusion tensor imaging studies.

Prediction of intraoperative blood loss in pediatric posterior fossa tumors by neuroradiological evaluation: preliminary study.

Background: Hemorrhage management is crucial for surgical resection of pediatric posterior-fossa tumors (PPFTs). Tumor volume and vascularity on preoperative magnetic resonance imaging (MRI) can help predict and control intraoperative blood loss (IBL). The present study aimed to assess the correlation between MRI features and IBL in PPFTs.