학술논문
Molecular reclassification reveals low prevalence of germline predisposition in children with ependymoma.
Document Type
Article
Author
Source
Subject
*EPENDYMOMA
*GERM cells
CENTRAL nervous system tumors
*
Language
ISSN
2051-5960
Abstract
Keywords: Ependymoma; Genetic predisposition; Tumor methylation profiling; Germline; Sequencing EN Ependymoma Genetic predisposition Tumor methylation profiling Germline Sequencing 1 4 4 06/14/23 20230612 NES 230612 Main text Ependymoma is the second most common malignant childhood brain tumor, accounting for approximately 6% of all central nervous system (CNS) tumors in children [[6]]. These data emphasize the need for both germline and tumor DNA profiling in children with CNS tumors and highlight the exceptional scarcity of germline mutations in children with molecularly classified intracranial ependymoma. More recently, Sturm et al. published an international population-based prospective study of 1,204 children with CNS tumors undergoing tumor methylation profiling, targeted tumor sequencing as well as targeted germline sequencing of 47 known cancer predisposition genes [[9]]. [Extracted from the article]