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- Title
Recurrent ACVR1 mutations in posterior fossa ependymoma.
- Authors
Pratt, Drew; Lucas, Calixto-Hope G.; Selvam, Pavalan Panneer; Abdullaev, Zied; Ketchum, Courtney; Quezado, Martha; Armstrong, Terri S.; Gilbert, Mark R.; Papanicolau-Sengos, Antonios; Raffeld, Mark; Choo-Wosoba, Hyoyoung; Chan, Priya; Whipple, Nicholas; Nasrallah, MacLean; Santi, Mariarita; Ramaswamy, Vijay; Giannini, Caterina; Ritzmann, Timothy A.; Grundy, Richard G.; Burford, Anna
- Abstract
Furthermore, we show that, in the context of retained histone H3 lysine 27 trimethylation (H3K27me3), I ACVR1 i -mutant PF ependymomas exhibit a DNA methylation signature distinct from other PF ependymomas. I TERT i promoter mutations combined with monosomy of chromosome 6 were recently shown to identify a group of clinically aggressive posterior fossa ependymal tumors with hybrid histologic and epigenetic features of ependymoma and subependymoma (EPN/SE) [[13]]. Here, we show that posterior fossa ependymomas harboring I ACVR1 i mutation with retained H3K27me3 have overlapping clinicopathologic features with PFB ependymomas but resolve into a unique epigenetic subgroup distinct from other currently recognized ependymoma/subependymoma DNA methylation classes. In contrast to I ACVR1 i -mutant DMG, I ACVR1 i -mutant PF ependymomas lacked histone H3 mutation and co-occurring alterations in I PIK3CA i , I PIK3R1 i , and I PPM1D i (Fig.
- Subjects
EPENDYMOMA; CENTRAL nervous system tumors; GENETIC mutation
- Publication
Acta Neuropathologica, 2022, Vol 144, Issue 2, p373
- ISSN
0001-6322
- Publication type
Article
- DOI
10.1007/s00401-022-02435-2