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- Title
Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome.
- Authors
Sumerauer, David; Krskova, Lenka; Vicha, Ales; Misove, Adela; Mamatjan, Yasin; Jencova, Pavla; Vlckova, Marketa; Slamova, Lucie; Vanova, Katerina; Liby, Petr; Taborsky, Jakub; Koblizek, Miroslav; Klubal, Radek; Kyncl, Martin; Zadeh, Gelareh; Stary, Jan; Zamecnik, Josef; Ramaswamy, Vijay; Zapotocky, Michal
- Abstract
Current methods of detecting I IDH1 i mutational status rely primarily on immunohistochemistry or droplet digital PCR which is specific to the detection of the I IDH1 R132H i mutation. Recently, Orr et al. reviewed LFS-associated brain tumours describing adults at risk of developing diffuse astrocytomas harbouring I IDH1 R132C i mutation [[6]]. Our findings using genome wide DNA methylation profiling indicate that pediatric IDH gliomas do not differ epigenetically from classical adult onset IDH related gliomas, where the natural history would suggest eventual malignant progression.
- Subjects
LI-Fraumeni syndrome; ASTROCYTOMAS; CHILDHOOD cancer; BRAIN tumors; NUCLEAR magnetic resonance spectroscopy
- Publication
Acta Neuropathologica, 2020, Vol 139, Issue 4, p795
- ISSN
0001-6322
- Publication type
Article
- DOI
10.1007/s00401-019-02118-5