en
Scientific article
Open access
English

Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread

Published inNeurology Genetics, vol. 7, no. 2, e561
Publication date2021
Abstract

Objective: High-grade glioma (HGG) rarely spreads outside the CNS. To test the hypothesis that the lesions were metastases originating from an HGG, we sequenced the relapsing HGG and distant extraneural lesions. Methods: We performed whole-exome sequencing of an HGG lesion, its local relapse, and distant lesions in bone and lymph nodes. Results: Phylogenetic reconstruction and histopathologic analysis confirmed the common glioma origin of the secondary lesions. The mutational profile revealed an IDH1/2 wild-type HGG with an activating mutation in EGFR and biallelic focal loss of CDKN2A (9p21). In the metastatic samples and the local relapse, we found an activating PIK3CA mutation, further copy number gains in chromosome 7 (EGFR), and a putative pathogenic driver mutation in a canonical splice site of FLNA. Conclusions: Our findings demonstrate tumor spread outside the CNS and identify potential genetic drivers of metastatic dissemination outside the CNS, which could be leveraged as therapeutic targets or potential biomarkers.

Keywords
  • High-grade glioma
Citation (ISO format)
MARINARI, Eliana et al. Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread. In: Neurology Genetics, 2021, vol. 7, n° 2, p. e561. doi: 10.1212/NXG.0000000000000561
Main files (1)
Article (Published version)
Identifiers
ISSN of the journal2376-7839
238views
46downloads

Technical informations

Creation04/26/2021 5:03:00 PM
First validation04/26/2021 5:03:00 PM
Update time03/16/2023 12:30:20 AM
Status update03/16/2023 12:30:19 AM
Last indexation02/12/2024 1:25:59 PM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack