Erschienen in:
01.04.2020 | Correspondence
Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome
verfasst von:
David Sumerauer, Lenka Krskova, Ales Vicha, Adela Misove, Yasin Mamatjan, Pavla Jencova, Marketa Vlckova, Lucie Slamova, Katerina Vanova, Petr Liby, Jakub Taborsky, Miroslav Koblizek, Radek Klubal, Martin Kyncl, Gelareh Zadeh, Jan Stary, Josef Zamecnik, Vijay Ramaswamy, Michal Zapotocky
Erschienen in:
Acta Neuropathologica
|
Ausgabe 4/2020
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Excerpt
Mutations in isocitrate dehydrogenase 1 (
IDH1) constitute a frequent somatic driver event in adult low-grade (LGG) and high-grade gliomas (HGG) [
1,
3]. In children,
IDH1 mutations are rare and restricted to adolescents with a largely indeterminate incidence and prognosis. Li-Fraumeni syndrome (LFS) is defined as a genetic condition harbouring germline
TP53 mutations, predisposing to multiple early onset cancers including brain tumours [
6]. However, our understanding of the genomic landscape of pediatric LFS-associated gliomas is limited by a lack of comprehensive molecular characterization of this group in children [
7]. Here, we report
IDH1 R132H and rare non-R132H
IDH1 mutations in a cohort of pediatric hemispheric glioma patients who frequently harbour germline
TP53 pathogenic mutations. …
