PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum.

ABSTRACT: Large-scale molecular profiling studies in recent years have shown that central nervous system (CNS) tumors display a much greater heterogeneity in terms of molecularly distinct entities, cellular origins and genetic drivers than anticipated from histological assessment. DNA methylation profiling has emerged as a useful tool for robust tumor classification, providing new insights into these heterogeneous molecular classes. This is particularly true for rare CNS tumors with a broad morphological spectrum, which are not possible to assign as separate entities based on histological similarity alone. Here, we describe a molecularly distinct subset of predominantly pediatric CNS neoplasms (n = 60) that harbor PATZ1 fusions. The original histological diagnoses of these tumors covered a wide spec

SUBMITTER: Alhalabi KT 

PROVIDER: S-EPMC8500868 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature