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Free keywords:
Adaptor Proteins, Signal Transducing/genetics
Adolescent
Adult
*Age Factors
Aged
Central Nervous System Neoplasms/classification/genetics/*pathology
Child
Child, Preschool
DNA Methylation
Ependymoma/classification/genetics/*pathology
Female
Gene Dosage
Gene Expression Profiling
Gene Fusion
Humans
Infant
Male
Middle Aged
Phosphoproteins/genetics
Transcription, Genetic
Young Adult
Abstract:
Ependymal tumors across age groups are currently classified and graded solely by histopathology. It is, however, commonly accepted that this classification scheme has limited clinical utility based on its lack of reproducibility in predicting patients' outcome. We aimed at establishing a uniform molecular classification using DNA methylation profiling. Nine molecular subgroups were identified in a large cohort of 500 tumors, 3 in each anatomical compartment of the CNS, spine, posterior fossa, supratentorial. Two supratentorial subgroups are characterized by prototypic fusion genes involving RELA and YAP1, respectively. Regarding clinical associations, the molecular classification proposed herein outperforms the current histopathological classification and thus might serve as a basis for the next World Health Organization classification of CNS tumors.
