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@ARTICLE{Sturm:130627,
author = {D. Sturm$^*$ and B. A. Orr and U. Toprak$^*$ and V.
Hovestadt$^*$ and D. Jones$^*$ and D. Capper$^*$ and M.
Sill$^*$ and I. Buchhalter$^*$ and P. A. Northcott$^*$ and
I. Leis and M. Ryzhova and C. Koelsche$^*$ and E. Pfaff$^*$
and S. J. Allen and G. Balasubramanian$^*$ and B. Worst$^*$
and K. Pajtler$^*$ and S. Brabetz$^*$ and P. Johann$^*$ and
F. Sahm$^*$ and J. Reimand and A. Mackay and D. M. Carvalho
and M. Remke$^*$ and J. J. Phillips and A. Perry and C.
Cowdrey and R. Drissi and M. Fouladi and F. Giangaspero and
M. Łastowska and W. Grajkowska and W. Scheurlen and T.
Pietsch and C. Hagel and J. Gojo and D. Lötsch and W.
Berger and I. Slavc and C. Haberler and A. Jouvet and S.
Holm and S. Hofer and M. Prinz and C. Keohane and I. Fried
and C. Mawrin and D. Scheie and B. C. Mobley and M. J.
Schniederjan and M. Santi and A. M. Buccoliero and S. Dahiya
and C. M. Kramm and A. O. von Bueren and K. von Hoff and S.
Rutkowski and C. Herold-Mende$^*$ and M. C. Frühwald and T.
Milde$^*$ and M. Hasselblatt and P. Wesseling and J.
Rößler and U. Schüller$^*$ and M. Ebinger$^*$ and J.
Schittenhelm$^*$ and S. Frank and R. Grobholz and I. Vajtai
and V. Hans and R. Schneppenheim and K. Zitterbart and V. P.
Collins and E. Aronica and P. Varlet and S. Puget and C.
Dufour and J. Grill and D. Figarella-Branger and M. Wolter
and M. U. Schuhmann$^*$ and T. Shalaby and M. Grotzer and T.
van Meter and C.-M. Monoranu and J. Felsberg$^*$ and G.
Reifenberger$^*$ and M. Snuderl and L. A. Forrester and J.
Koster and R. Versteeg and R. Volckmann and P. van Sluis and
S. Wolf$^*$ and T. Mikkelsen and A. Gajjar and K. Aldape and
A. S. Moore and M. D. Taylor and C. Jones and N. Jabado and
M. A. Karajannis and R. Eils$^*$ and M. Schlesner$^*$ and P.
Lichter$^*$ and A. von Deimling$^*$ and S. Pfister$^*$ and
D. W. Ellison and A. Korshunov$^*$ and M. Kool$^*$},
title = {{N}ew {B}rain {T}umor {E}ntities {E}merge from {M}olecular
{C}lassification of {CNS}-{PNET}s.},
journal = {Cell},
volume = {164},
number = {5},
issn = {0092-8674},
address = {[Cambridge, Mass.]},
publisher = {Cell Press},
reportid = {DKFZ-2017-05705},
pages = {1060 - 1072},
year = {2016},
abstract = {Primitive neuroectodermal tumors of the central nervous
system (CNS-PNETs) are highly aggressive, poorly
differentiated embryonal tumors occurring predominantly in
young children but also affecting adolescents and adults.
Herein, we demonstrate that a significant proportion of
institutionally diagnosed CNS-PNETs display molecular
profiles indistinguishable from those of various other
well-defined CNS tumor entities, facilitating diagnosis and
appropriate therapy for patients with these tumors. From the
remaining fraction of CNS-PNETs, we identify four new CNS
tumor entities, each associated with a recurrent genetic
alteration and distinct histopathological and clinical
features. These new molecular entities, designated 'CNS
neuroblastoma with FOXR2 activation (CNS NB-FOXR2),' 'CNS
Ewing sarcoma family tumor with CIC alteration (CNS
EFT-CIC),' 'CNS high-grade neuroepithelial tumor with MN1
alteration (CNS HGNET-MN1),' and 'CNS high-grade
neuroepithelial tumor with BCOR alteration (CNS
HGNET-BCOR),' will enable meaningful clinical trials and the
development of therapeutic strategies for patients affected
by poorly differentiated CNS tumors.},
keywords = {BCOR protein, human (NLM Chemicals) / CIC protein, human
(NLM Chemicals) / FOXR2 protein, human (NLM Chemicals) /
Forkhead Transcription Factors (NLM Chemicals) / MN1
protein, human (NLM Chemicals) / Proto-Oncogene Proteins
(NLM Chemicals) / Repressor Proteins (NLM Chemicals) / Tumor
Suppressor Proteins (NLM Chemicals)},
cin = {B062 / B080 / B060 / G380 / C060 / G340 / L101 / L401 /
L701 / L801},
ddc = {570},
cid = {I:(DE-He78)B062-20160331 / I:(DE-He78)B080-20160331 /
I:(DE-He78)B060-20160331 / I:(DE-He78)G380-20160331 /
I:(DE-He78)C060-20160331 / I:(DE-He78)G340-20160331 /
I:(DE-He78)L101-20160331 / I:(DE-He78)L401-20160331 /
I:(DE-He78)L701-20160331 / I:(DE-He78)L801-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:26919435},
pmc = {pmc:PMC5139621},
doi = {10.1016/j.cell.2016.01.015},
url = {https://inrepo02.dkfz.de/record/130627},
}