Comprehensive Molecular Analysis of Pediatric Thalamic tumors

Pediatric thalamic tumors are relatively rare cancers and are classified as either low grade gliomas (LGG) or high grade gliomas (HGG). Bilateral thalamic gliomas (BTG) are a particularly rare tumor in this group. Recent molecular studies and WHO classification places thalamic tumors in the category of midline gliomas such as diffuse intrinsic pontine gliomas (DIPGs). This new categorization has been mainly based on discoveries that show histone 3 mutations to drive both of these tumors types. Where recent studies have identified histone mutations associated with DIPGs, more research is required to provide a clear landscape of genomic aberrations associated with thalamic tumors. The goals of this project are to generate the comprehensive molecular profile specific to primary thalamic tumors and to validate genomic abnormalities using liquid biopsy and whole exome sequencing (DNA from blood samples). This project is a comprehensive study of the biology of thalamic glioma and understanding its genetic background. This understanding could lead to more accurate diagnostics and more effective treatment options for patients. The Children’s Brain Tumor Network contributed to this project by providing rare plasma samples, tumor tissue, tumor DNA, cerebral spinal fluid and germline DNA.