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@ARTICLE{Korshunov:137689,
author = {A. Korshunov$^*$ and F. Sahm$^*$ and O. Zheludkova and A.
Golanov and D. Stichel$^*$ and D. Schrimpf$^*$ and M.
Ryzhova and A. Potapov and A. Habel$^*$ and J. Meyer$^*$ and
P. Lichter$^*$ and D. Jones$^*$ and A. von Deimling$^*$ and
S. Pfister$^*$ and M. Kool$^*$},
title = {{DNA}-methylation profiling is a method of choice for
molecular verification of pediatric {WNT} activated
medulloblastomas.},
journal = {Neuro-Oncology},
volume = {21},
number = {2},
issn = {1523-5866},
address = {Oxford},
publisher = {Oxford Univ. Press},
reportid = {DKFZ-2018-01566},
pages = {214-221},
year = {2019},
abstract = {WNT activated medulloblastoma (WNT MB) represent a
well-characterized molecular variant accounting for
$10-15\%$ of all MB and is associated with a favorable
clinical outcome. Patients with localized WNT MBs could
benefit from de-intensification of combined treatment, which
would require an accurate diagnosis of these tumors.
However, despite the presence of molecular features related
with a WNT MB signature (nuclear ß-catenin
immunoexpression, CTNNB1 mutation and monosomy 6), a prompt
and reliable diagnostic verification of these tumors is not
yet feasible.In the current study, we analyzed 78 samples of
WNT MB treated in a single institute through genome-wide DNA
methylation and targeted next generation sequencing to
elaborate an optimal method for WNT MB molecular
verification.We found that DNA-methylation profiling
discloses significant advantages for molecular diagnostic of
WNT MB. All other 'routine' methods applied such as
ß-catenin immunohistochemistry, CTNNB1 mutation analysis,
and detection of monosomy 6 failed to identify all WNT MB
cases. Survival analysis revealed that application of a
reduced radiotherapy protocol for WNT MB treatment had no
influence on patients' survival. Only one patient died due
to local relapse but recurrent tumor was pathologically and
molecularly diagnosed as a secondary glioblastoma.1. DNA
methylation analysis should be considered as a method of
choice for further clinically relevant stratification of WNT
MB and for correct diagnosis of the recurrent tumors. 2. WNT
MB patients with localized disease could benefit from
treatment de-intensification.},
cin = {B300 / B060 / B062 / L101},
ddc = {610},
cid = {I:(DE-He78)B300-20160331 / I:(DE-He78)B060-20160331 /
I:(DE-He78)B062-20160331 / I:(DE-He78)L101-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:30252101},
doi = {10.1093/neuonc/noy155},
url = {https://inrepo02.dkfz.de/record/137689},
}