Published in:
Open Access
01-12-2023 | Glioma | Letter to the Editor
Pediatric high-grade glioma MYCN is frequently associated with Li-Fraumeni syndrome
Authors:
Léa Guerrini-Rousseau, Arnault Tauziède-Espariat, David Castel, Etienne Rouleau, Philipp Sievers, Raphaël Saffroy, Kévin Beccaria, Thomas Blauwblomme, Lauren Hasty, Franck Bourdeaut, Jacques Grill, Pascale Varlet, Marie-Anne Debily
Published in:
Acta Neuropathologica Communications
|
Issue 1/2023
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Excerpt
In the current World Health Organization (WHO) Classification of Tumors of the Central Nervous System (CNS), pediatric high-grade gliomas (HGGs),
IDH- and histone H3
-wildtype (WT) are divided into three molecular subtypes: RTK1, RTK2 and MYCN [
2]. HGG-MYCN present recurrent histopathological characteristics (nodular pattern with embryonal cells), genetic features (frequent
MYCN and/or
ID2 amplification, and somatic
TP53 mutations) [
1,
5,
6], and a specific DNA-methylation profile. Li-Fraumeni syndrome (LFS) encompasses a wide variety of primary brain tumors. They include HGGs,
IDH-WT with
MYCN amplification, but only one of them was reported in the literature as a HGG-MYCN by DNA-methylation profiling [
3,
4]. The proportion of specimens from the epigenetic subgroup HGG-MYCN associated with LFS remains an unanswered question. The aim of this study was to analyze the somatic and germline status of
TP53 and the DNA-methylation profile (using the v12.5 of the Heidelberg Brain Tumor classifier) from a series of HGG-MYCN. From a series of 151 pediatric HGGs, we selected 11 cases suspected of belonging to a
MYCN subtype based on histopathology and
MYCN amplification (identified by FISH analysis,
cf. Additional file
1: Fig. S1). …
