J Pediatr Hematol Oncol 2021 May 11. Epub 2021 May 11.
Brain Tumor Center, Cancer and Blood Diseases Institute Department of Radiology and Medical Imaging, Cincinnati Children's Hospital Medical Center Departments of Radiology Pediatrics Radiation Oncology, University of Cincinnati College of Medicine, Cincinnati Pediatric Neuro-Oncology Program, Nationwide Children's Hospital The Ohio State University College of Medicine, Columbus, OH Department of Pathology, Upstate Medical University, Syracuse, NY.
Extraneural metastases are rare in pediatric high-grade gliomas and little is known about the genomic profiles of tumors that disseminate beyond the central nervous system. We describe a pediatric patient with H3 K27M-mutant diffuse midline glioma of the brain and spine with biopsy-confirmed osseous metastases present at diagnosis and suspected metastatic parenchymal pulmonary disease. Several potentially clinically and/or therapeutically relevant genomic alterations were identified, including H3F3A and TP53 mutations as well as MET, CDK6, EMSY, and PIK3CG amplifications. Read More