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@ARTICLE{Rautajoki:181272,
author = {K. J. Rautajoki and S. Jaatinen and A. M. Tiihonen and M.
Annala and E. M. Vuorinen and A. Kivinen and M. J. Rauhala
and K. Maass$^*$ and K. Pajtler$^*$ and O. Yli-Harja and P.
Helén and J. Haapasalo and H. Haapasalo and W. Zhang and M.
Nykter},
title = {{PTPRD} and {CNTNAP}2 as markers of tumor aggressiveness in
oligodendrogliomas.},
journal = {Scientific reports},
volume = {12},
number = {1},
issn = {2045-2322},
address = {[London]},
publisher = {Macmillan Publishers Limited, part of Springer Nature},
reportid = {DKFZ-2022-01915},
pages = {14083},
year = {2022},
abstract = {Oligodendrogliomas are typically associated with the most
favorable prognosis among diffuse gliomas. However, many of
the tumors progress, eventually leading to patient death. To
characterize the changes associated with oligodendroglioma
recurrence and progression, we analyzed two recurrent
oligodendroglioma tumors upon diagnosis and after tumor
relapse based on whole-genome and RNA sequencing. Relapsed
tumors were diagnosed as glioblastomas with an
oligodendroglioma component before the World Health
Organization classification update in 2016. Both patients
died within 12 months after relapse. One patient carried an
inactivating POLE mutation leading to a clearly hypermutated
progressed tumor. Strikingly, both relapsed tumors carried
focal chromosomal rearrangements in PTPRD and CNTNAP2 genes
with associated decreased gene expression. TP53 mutation was
also detected in both patients after tumor relapse. In The
Cancer Genome Atlas (TCGA) diffuse glioma cohort, PTPRD and
CNTNAP2 expression decreased by tumor grade in
oligodendrogliomas and PTPRD expression also in IDH-mutant
astrocytomas. Low expression of the genes was associated
with poor overall survival. Our analysis provides
information about aggressive oligodendrogliomas with worse
prognosis and suggests that PTPRD and CNTNAP2 expression
could represent an informative marker for their
stratification.},
cin = {B062 / HD01},
ddc = {600},
cid = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:35982066},
doi = {10.1038/s41598-022-14977-2},
url = {https://inrepo02.dkfz.de/record/181272},
}