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@ARTICLE{SextonOates:136810,
author = {A. Sexton-Oates and A. Dodgshun and V. Hovestadt$^*$ and D.
Jones$^*$ and D. M. Ashley and M. Sullivan and D. MacGregor
and R. Saffery},
title = {{M}ethylation profiling of paediatric pilocytic astrocytoma
reveals variants specifically associated with tumour
location and predictive of recurrence.},
journal = {Molecular oncology},
volume = {12},
number = {8},
issn = {1574-7891},
address = {Amsterdam [u.a.]},
publisher = {Elsevier},
reportid = {DKFZ-2018-01248},
pages = {1219 - 1232},
year = {2018},
abstract = {Childhood pilocytic astrocytomas (PA) are low-grade tumours
with an excellent prognosis. However, a minority,
particularly those in surgically inaccessible locations,
have poorer long-term outcome. At present, it is unclear
whether anatomical location in isolation, or in combination
with underlying biological variation, determines clinical
behaviour. Here, we have tested the utility of DNA
methylation profiling to inform tumour biology and to
predict behaviour in paediatric PA. Genome-wide DNA
methylation profiles were generated for 117 paediatric PAs.
Using a combination of analyses, we identified DNA
methylation variants specific to tumour location and
predictive of behaviour. Receiver-operating characteristic
analysis was used to test the predictive utility of clinical
and/or DNA methylation features to classify tumour behaviour
at diagnosis. Unsupervised analysis distinguished three
methylation clusters associated with tumour location
(cortical, midline and infratentorial). Differential
methylation of 5404 sites identified enrichment of genes
involved in embryonic nervous system development. Specific
hypermethylation of NEUROG1 and NR2E1 was identified as a
feature of cortical tumours. A highly accurate method to
classify tumours according to behaviour, which combined
three clinical features (age, location and extent of
resection) and methylation level at a single site, was
identified. Our findings show location-specific epigenetic
profiles for PAs, potentially reflecting their cell type of
origin. This may account for differences in clinical
behaviour according to location independent of
histopathology. We also defined an accurate method to
predict tumour behaviour at diagnosis. This warrants further
testing in similar patient cohorts.},
cin = {B060 / B062},
ddc = {610},
cid = {I:(DE-He78)B060-20160331 / I:(DE-He78)B062-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:28388012},
pmc = {pmc:PMC6068350},
doi = {10.1002/1878-0261.12062},
url = {https://inrepo02.dkfz.de/record/136810},
}