Novel molecular subtypes of intracranial germ cell tumors expand therapeutic opportunities.

ABSTRACT:

Background

Intracranial germ cell tumors (IGCTs) are a rare group of malignancies that are clinically classified as germinomas and nongerminomatous germ cell tumors (NGGCTs). Previous studies have found that somatic mutations involving the mitogen-activated protein kinase/mTOR signaling pathway are common early events. However, a comprehensive genomic understanding of IGCTs is still lacking.

Methods

We established a cohort including over 100 IGCTs and conducted genomic and transcriptomic sequencing.

Results

We identified novel recurrent driver genomic aberrations, including USP28 truncation mutations and high-level copy number amplification of KRAS and CRKL caused by replication of extrachromosomal DNA. Three distinct subtypes associated with unique genomic and clinic

SUBMITTER: Li B 

PROVIDER: S-EPMC11226877 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature