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01-04-2020 | Astrocytoma | Correspondence

Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome

Authors: 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

Published in: Acta Neuropathologica | Issue 4/2020

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. …

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Title: Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome
Authors: 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
Publication date: 01-04-2020
Publisher: Springer Berlin Heidelberg
Keywords: Astrocytoma
Glioma
Glioma
Astrocytoma
Astrocytoma
Oligodendroglioma
Glioma
Published in: Acta Neuropathologica / Issue 4/2020
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-019-02118-5

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Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome

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