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@ARTICLE{Mack:131790,
author = {S. C. Mack and K. Pajtler$^*$ and L. Chavez$^*$ and K.
Okonechnikov$^*$ and K. C. Bertrand and X. Wang and S.
Erkek$^*$ and A. Federation and A. Song and C. Lee and X.
Wang and L. McDonald and J. J. Morrow and A. Saiakhova and
P. Sin-Chan and Q. Wu and K. A. Michaelraj and T. E. Miller
and C. G. Hubert and M. Ryzhova and L. Garzia and L. Donovan
and S. Dombrowski and D. C. Factor and B. Luu and C. L. L.
Valentim and R. C. Gimple and A. Morton and L. Kim and B. C.
Prager and J. J. Y. Lee and X. Wu and J. Zuccaro and Y.
Thompson and B. L. Holgado and J. Reimand and S. Q. Ke and
A. Tropper and S. Lai and S. Vijayarajah and S. Doan and V.
Mahadev and A. F. Miñan and S. Gröbner$^*$ and M. Lienhard
and M. Zapatka$^*$ and Z. Huang$^*$ and K. D. Aldape and A.
M. Carcaboso and P. J. Houghton and S. T. Keir and T.
Milde$^*$ and H. Witt$^*$ and Y. Li and C.-J. Li and X.-W.
Bian and D. Jones$^*$ and I. Scott and S. K. Singh and A.
Huang and P. B. Dirks and E. Bouffet and J. E. Bradner and
V. Ramaswamy and N. Jabado and J. T. Rutka and P. A.
Northcott and M. Lupien and P. Lichter$^*$ and A.
Korshunov$^*$ and P. C. Scacheri and S. Pfister$^*$ and M.
Kool$^*$ and M. D. Taylor and J. N. Rich},
title = {{T}herapeutic targeting of ependymoma as informed by
oncogenic enhancer profiling.},
journal = {Nature},
volume = {553},
number = {7686},
issn = {1476-4687},
address = {London [u.a.]},
publisher = {Nature Publ. Group},
reportid = {DKFZ-2018-00087},
pages = {101 - 105},
year = {2018},
abstract = {Genomic sequencing has driven precision-based oncology
therapy; however, the genetic drivers of many malignancies
remain unknown or non-targetable, so alternative approaches
to the identification of therapeutic leads are necessary.
Ependymomas are chemotherapy-resistant brain tumours, which,
despite genomic sequencing, lack effective molecular
targets. Intracranial ependymomas are segregated on the
basis of anatomical location (supratentorial region or
posterior fossa) and further divided into distinct molecular
subgroups that reflect differences in the age of onset,
gender predominance and response to therapy. The most common
and aggressive subgroup, posterior fossa ependymoma group A
(PF-EPN-A), occurs in young children and appears to lack
recurrent somatic mutations. Conversely, posterior fossa
ependymoma group B (PF-EPN-B) tumours display frequent
large-scale copy number gains and losses but have favourable
clinical outcomes. More than $70\%$ of supratentorial
ependymomas are defined by highly recurrent gene fusions in
the NF-κB subunit gene RELA (ST-EPN-RELA), and a smaller
number involve fusion of the gene encoding the
transcriptional activator YAP1 (ST-EPN-YAP1).
Subependymomas, a distinct histologic variant, can also be
found within the supratetorial and posterior fossa
compartments, and account for the majority of tumours in the
molecular subgroups ST-EPN-SE and PF-EPN-SE. Here we
describe mapping of active chromatin landscapes in 42
primary ependymomas in two non-overlapping primary
ependymoma cohorts, with the goal of identifying essential
super-enhancer-associated genes on which tumour cells
depend. Enhancer regions revealed putative oncogenes,
molecular targets and pathways; inhibition of these targets
with small molecule inhibitors or short hairpin RNA
diminished the proliferation of patient-derived neurospheres
and increased survival in mouse models of ependymomas.
Through profiling of transcriptional enhancers, our study
provides a framework for target and drug discovery in other
cancers that lack known genetic drivers and are therefore
difficult to treat.},
subtyp = {Letter},
cin = {B062 / L101 / B060 / G340 / G380},
ddc = {070},
cid = {I:(DE-He78)B062-20160331 / I:(DE-He78)L101-20160331 /
I:(DE-He78)B060-20160331 / I:(DE-He78)G340-20160331 /
I:(DE-He78)G380-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:29258295},
doi = {10.1038/nature25169},
url = {https://inrepo02.dkfz.de/record/131790},
}