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@ARTICLE{Korshunov:143049,
author = {A. Korshunov$^*$ and B. Casalini$^*$ and L. Chavez$^*$ and
T. Hielscher$^*$ and M. Sill$^*$ and M. Ryzhova and T.
Sharma$^*$ and D. Schrimpf$^*$ and D. Stichel$^*$ and D.
Capper$^*$ and D. E. Reuss$^*$ and D. Sturm$^*$ and O.
Absalyamova and A. Golanov and S. Lambo$^*$ and M.
Bewerunge-Hudler$^*$ and P. Lichter$^*$ and C. Herold-Mende
and W. Wick$^*$ and S. Pfister$^*$ and M. Kool$^*$ and D.
Jones$^*$ and A. von Deimling$^*$ and F. Sahm$^*$},
title = {{I}ntegrated molecular characterization of {IDH}-mutant
glioblastomas.},
journal = {Neuropathology $\&$ applied neurobiology},
volume = {45},
number = {2},
issn = {0305-1846},
address = {Oxford [u.a.]},
publisher = {Wiley-Blackwell},
reportid = {DKFZ-2019-00668},
pages = {108 - 118},
year = {2019},
abstract = {Mutations of isocitrate dehydrogenase (IDH)1/2 affect
almost all astrocytomas of WHO grade II and III. A subset of
IDH-mutant astrocytic tumours progresses to IDH-mutant
glioblastoma or presents with the histology of a
glioblastoma at first presentation. We set out here to
assess the molecular spectrum of IDH-mutant glioblastomas.We
performed an integrated molecular analysis of a mono-centric
cohort (n = 97); assessed through genome-wide DNA
methylation analysis, copy-number profiling and targeted
next generation sequencing using a neurooncology-tailored
gene panel.Of these 97 IDH-mutant glioblastomas, 68 had a
glioblastoma at first presentation (de novo IDH-mutant
glioblastoma) and 29 emerged from a prior low-grade lesion
(evolved IDH-mutant glioblastoma). Unsupervised hierarchical
clustering of DNA methylation data disclosed that IDH-mutant
glioblastoma (de novo and evolved) formed a distinct group
separate from other diffuse glioma subtypes. Homozygous
deletions of CDKN2A/B were found to be associated with
shorter survival.This study demonstrates DNA methylation
patterns in IDH-mutant glioblastoma to be distinct from
lower-grade astrocytic counterparts but homogeneous within
de novo and evolved IDH-mutant glioblastomas, and identifies
CDKN2A as a marker for possible genetic sub-stratification.},
cin = {B300 / B062 / C060 / W110 / B060 / B320 / L101 / L201},
ddc = {610},
cid = {I:(DE-He78)B300-20160331 / I:(DE-He78)B062-20160331 /
I:(DE-He78)C060-20160331 / I:(DE-He78)W110-20160331 /
I:(DE-He78)B060-20160331 / I:(DE-He78)B320-20160331 /
I:(DE-He78)L101-20160331 / I:(DE-He78)L201-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:30326163},
doi = {10.1111/nan.12523},
url = {https://inrepo02.dkfz.de/record/143049},
}