PATH-46. DETECTING MISDIAGNOSED ATYPICAL TERATOID/RHABDOID TUMOR (ATRT) BY DNA METHYLATION-BASED TUMOR CLASSIFICATION

ABSTRACT: Abstract Brain tumor diagnostics is achieved by combining morphology assessment and biomarker identification. However, the inter-observer variability of the histopathological diagnosis and lack of distinctive biomarkers makes these diagnoses particularly challenging. Recently, the potential for methylation-based characterization has been developed for brain tumors. To provide accurate and efficient brain tumor diagnostics, The Jackson Laboratory developed a DNA methylation array (Illumina Infinium HD Methylation EPIC), combining the “Classifier” established by the German Cancer Research Center (DKFZ), which can identify 82 distinct central nervous system tumors. Here we present a pediatric patient referred to us for medulloblastoma subtype classification by the methylation profile. Surpris

SUBMITTER: Hsiao M 

PROVIDER: S-EPMC6847758 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature