Comprehensive profiling of myxopapillary ependymomas identifies a distinct molecular subtype with relapsing disease.

ABSTRACT:

Background

Myxopapillary ependymoma (MPE) is a heterogeneous disease regarding histopathology and outcome. The underlying molecular biology is poorly understood, and markers that reliably predict the patients' clinical course are unknown.

Methods

We assembled a cohort of 185 tumors classified as MPE based on DNA methylation. Methylation patterns, copy number profiles, and MGMT promoter methylation were analyzed for all tumors, 106 tumors were evaluated histomorphologically, and RNA sequencing was performed for 37 cases. Based on methylation profiling, we defined two subtypes MPE-A and MPE-B, and explored associations with epidemiological, clinical, pathological, and molecular characteristics of these tumors.

Results

MPE-A occurred at a median age of 27 years and were

SUBMITTER: Bockmayr M 

PROVIDER: S-EPMC9527524 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature