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@ARTICLE{Jenseit:177381,
author = {A. L. Jenseit$^*$ and A. Camgoz$^*$ and S. M. Pfister$^*$
and M. Kool$^*$},
title = {{EZHIP}: a new piece of the puzzle towards understanding
pediatric posterior fossa ependymoma.},
journal = {Acta neuropathologica},
volume = {143},
number = {1},
issn = {1432-0533},
address = {Heidelberg},
publisher = {Springer},
reportid = {DKFZ-2021-02473},
pages = {1-13},
year = {2022},
note = {#EA:B062#LA:B062# / 2022 Jan;143(1):1-13},
abstract = {Ependymomas (EPN) are tumors of the central nervous system
(CNS) that can arise in the supratentorial brain (ST-EPN),
hindbrain or posterior fossa (PF-EPN) or anywhere in the
spinal cord (SP-EPN), both in children and adults.
Molecular profiling studies have identified distinct groups
and subtypes in each of these anatomical compartments. In
this review, we give an overview on recent findings and new
insights what is driving PFA ependymomas, which is the most
common group. PFA ependymomas are characterized by a young
median age at diagnosis, an overall balanced genome and a
bad clinical outcome $(56\%$ 10-year overall survival).
Sequencing studies revealed no fusion genes or other highly
recurrently mutated genes, suggesting that the disease is
epigenetically driven. Indeed, recent findings have shown
that the characteristic global loss of the repressive
histone 3 lysine 27 trimethylation (H3K27me3) mark in PFA
ependymoma is caused by aberrant expression of the enhancer
of zeste homolog inhibitory protein (EZHIP) or in rare cases
by H3K27M mutations, which both inhibit EZH2 thereby
preventing the polycomb repressive complex 2 (PRC2) from
spreading H3K27me3. We present the current status of the
ongoing work on EZHIP and its essential role in the
epigenetic disturbance of PFA biology. Comparisons to the
oncohistone H3K27M and its role in diffuse midline glioma
(DMG) are drawn, highlighting similarities but also
differences between the tumor entities and underlying
mechanisms. A strong focus is to point out missing
information and to present directions of further research
that may result in new and improved therapies for PFA
ependymoma patients.},
subtyp = {Review Article},
keywords = {DMG (Other) / EZHIP (Other) / H3K27M (Other) / H3K27me3
(Other) / PFA ependymoma (Other) / PRC2 (Other)},
cin = {B062},
ddc = {610},
cid = {I:(DE-He78)B062-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:34762160},
doi = {10.1007/s00401-021-02382-4},
url = {https://inrepo02.dkfz.de/record/177381},
}