====== Pediatric Glioma ======

[[High-grade glioma]] (HGG) rarely spreads outside the CNS. To test the [[hypothesis]] that the lesions were [[metastases]] originating from an HGG, Marinari et al. sequenced the relapsing HGG and distant extraneural lesions.

They performed [[whole-exome sequencing]] of an HGG lesion, its local relapse, and distant lesions in bone and [[lymph node]]s.

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, they found an activating [[PIK3CA gene mutation]], further copy number gains in [[chromosome 7]] (EGFR), and a putative pathogenic driver mutation in a canonical splice site of FLNA.

The 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 [[biomarker]]s
((Marinari E, Dutoit V, Nikolaev S, Vargas MI, Schaller K, Lobrinus JA, Dietrich PY, Tsantoulis P, Migliorini D. Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread. Neurol Genet. 2021 Feb 15;7(2):e561. doi: 10.1212/NXG.0000000000000561. PMID: 33898738; PMCID: PMC8063622.)).