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Ependymomas in infancy: underlying genetic alterations, histological features, and clinical outcome.


ABSTRACT:

Introduction

Young age is an adverse prognostic factor in children with ependymomas. Treatment of these infants is challenging since beneficial therapeutic options are limited. As ependymomas are considered a biologically heterogeneous group, we aimed to characterize infant ependymomas with regard to their histological and genetic features.

Materials and methods

We analyzed 28 ependymomas occurring in children younger than 18 months at diagnosis enrolled into the HIT2000-E protocols with the aim to postpone irradiation until the age of 18 months if possible. All cases underwent neuropathological review, including immunohistochemical characterization. Genome-wide copy number alterations (CNA) were assessed by molecular inversion probe assays, and RELA and YAP1 fusions were de

SUBMITTER: Junger ST 

PROVIDER: S-EPMC7575464 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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