% IMPORTANT: The following is UTF-8 encoded. This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.
@ARTICLE{Bremer:154755,
author = {J. Bremer and R. Kottke and P. D. Johann$^*$ and K. von
Hoff and P. Brazzola and M. A. Grotzer and M. Kool$^*$ and
E. Rushing and N. U. Gerber},
title = {{A} single supratentorial high-grade neuroepithelial tumor
with two distinct {BCOR} mutations, exceptionally long
complete remission and survival.},
journal = {Pediatric blood $\&$ cancer},
volume = {67},
number = {7},
issn = {1545-5017},
address = {New York, NY},
publisher = {Wiley},
reportid = {DKFZ-2020-01003},
pages = {e28384},
year = {2020},
note = {2020 Jul;67(7):e28384},
abstract = {Here, we present a patient with high-grade neuroepithelial
tumors with mutations in the BCL6 corepressor BCOR
(HGNET-BCOR), a rare, highly malignant brain tumor with poor
prognosis. The patient underwent gross total tumor resection
(GTR), high-dose chemotherapy, and, after local relapse,
GTR, proton radiation, and chemotherapy. After a
7.5 year-long complete remission, the tumor recurred
locally, was treated by GTR, and responded to temozolomide
treatment. In addition to an internal tandem duplication in
BCOR common to the majority of HGNET-BCOR cases, molecular
analysis revealed a second BCOR mutation in this tumor: a
frame shift mutation. The combination of these mutations was
associated with relatively low BCOR expression compared to
other HGNET-BCOR cases.},
cin = {B062 / HD01},
ddc = {610},
cid = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:32383815},
doi = {10.1002/pbc.28384},
url = {https://inrepo02.dkfz.de/record/154755},
}