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@ARTICLE{Alhalabi:170394,
author = {K. T. Alhalabi$^*$ and D. Stichel$^*$ and P. Sievers$^*$
and H. Peterziel and A. C. Sommerkamp$^*$ and D. Sturm$^*$
and A. Wittmann$^*$ and M. Sill$^*$ and N. Jäger$^*$ and P.
Beck$^*$ and K. W. Pajtler$^*$ and M. Snuderl and G. Jour
and M. Delorenzo and A. M. Martin and A. Levy and N. Dalvi
and J. R. Hansford and N. G. Gottardo and E. Uro-Coste and
C.-A. Maurage and C. Godfraind and F. Vandenbos and T.
Pietsch and C. Kramm and M. Filippidou$^*$ and A. Kattamis
and C. Jones and I. Øra and T. S. Mikkelsen and M.
Zapotocky and D. Sumerauer and D. Scheie and M. McCabe and
P. Wesseling and B. B. J. Tops and M. E. G. Kranendonk and
M. A. Karajannis and N. Bouvier and E. Papaemmanuil and H.
Dohmen and T. Acker and K. von Hoff and S. Schmid and E.
Miele and K. Filipski$^*$ and L. Kitanovski and L. Krskova
and J. Gojo$^*$ and C. Haberler and F. Alvaro and J.
Ecker$^*$ and F. Selt$^*$ and T. Milde$^*$ and O. Witt$^*$
and I. Oehme$^*$ and M. Kool$^*$ and A. von Deimling$^*$ and
A. Korshunov$^*$ and S. M. Pfister$^*$ and F. Sahm$^*$ and
D. Jones$^*$},
title = {{PATZ}1 fusions define a novel molecularly distinct
neuroepithelial tumor entity with a broad histological
spectrum.},
journal = {Acta neuropathologica},
volume = {142},
number = {5},
issn = {1432-0533},
address = {Heidelberg},
publisher = {Springer},
reportid = {DKFZ-2021-01903},
pages = {841-857},
year = {2021},
note = {#EA:B360#LA:B360# / #LA:B300# /2021 Nov;142(5):841-857},
abstract = {Large-scale molecular profiling studies in recent years
have shown that central nervous system (CNS) tumors display
a much greater heterogeneity in terms of molecularly
distinct entities, cellular origins and genetic drivers than
anticipated from histological assessment. DNA methylation
profiling has emerged as a useful tool for robust tumor
classification, providing new insights into these
heterogeneous molecular classes. This is particularly true
for rare CNS tumors with a broad morphological spectrum,
which are not possible to assign as separate entities based
on histological similarity alone. Here, we describe a
molecularly distinct subset of predominantly pediatric CNS
neoplasms (n = 60) that harbor PATZ1 fusions. The original
histological diagnoses of these tumors covered a wide
spectrum of tumor types and malignancy grades. While the
single most common diagnosis was glioblastoma (GBM),
clinical data of the PATZ1-fused tumors showed a better
prognosis than typical GBM, despite frequent relapses. RNA
sequencing revealed recurrent MN1:PATZ1 or EWSR1:PATZ1
fusions related to (often extensive) copy number variations
on chromosome 22, where PATZ1 and the two fusion partners
are located. These fusions have individually been reported
in a number of glial/glioneuronal tumors, as well as
extracranial sarcomas. We show here that they are more
common than previously acknowledged, and together define a
biologically distinct CNS tumor type with high expression of
neural development markers such as PAX2, GATA2 and IGF2.
Drug screening performed on the MN1:PATZ1 fusion-bearing
KS-1 brain tumor cell line revealed preliminary candidates
for further study. In summary, PATZ1 fusions define a
molecular class of histologically polyphenotypic
neuroepithelial tumors, which show an intermediate prognosis
under current treatment regimens.},
keywords = {Brain tumor (Other) / EWSR1 (Other) / Gene fusion (Other) /
MN1 (Other) / Neuroepithelial (Other) / Neurooncology
(Other) / PATZ1 (Other) / Pediatric (Other)},
cin = {B360 / B300 / HD01 / B062 / FM01 / B310},
ddc = {610},
cid = {I:(DE-He78)B360-20160331 / I:(DE-He78)B300-20160331 /
I:(DE-He78)HD01-20160331 / I:(DE-He78)B062-20160331 /
I:(DE-He78)FM01-20160331 / I:(DE-He78)B310-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:34417833},
doi = {10.1007/s00401-021-02354-8},
url = {https://inrepo02.dkfz.de/record/170394},
}