Genomic characterization of intracranial teratomas using whole genome sequencing.

ABSTRACT:

Background

Intracranial teratoma is a rare neoplasm of the central nervous system, often classified into mature and immature types and occurs mainly in children and adolescents. To date, there has been no comprehensive genomic characterization analysis of teratoma due to its rarity of the cases.

Methods

Forty-six patients with intracranial teratomas were collected and 22 of them underwent whole-exome sequencing, including 8 mature teratomas and 14 immature teratomas. A comprehensive analysis was performed to analyze somatic mutations, copy number variants (CNVs), mutational signatures, and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway in our cohort.

Results

The most common somatic mutated gene in intracranial teratomas was CARD11 (18%) and IRS1 (18%), followe

SUBMITTER: Zhang C 

PROVIDER: S-EPMC9706722 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature