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@ARTICLE{Sill:306804,
author = {M. Sill$^*$ and D. Schrimpf$^*$ and A. Patel$^*$ and D.
Sturm$^*$ and N. Jäger$^*$ and P. Sievers$^*$ and L.
Schweizer$^*$ and R. Banan$^*$ and D. Reuss$^*$ and A.
Suwala$^*$ and A. Korshunov$^*$ and D. Stichel$^*$ and A. K.
Wefers and A.-C. Hau and H. Boldt and P. Harter$^*$ and Z.
Abdullaev and J. Benhamida and D. Teichmann$^*$ and A.
Koch$^*$ and J. Hench and S. Frank and M. Hasselblatt and S.
Mansouri and T. Díaz de Ståhl and J. Serrano and J.
Ecker$^*$ and F. Selt$^*$ and M. Taylor and V. Ramaswamy and
F. Cavalli and A. S. Berghoff and B. Bison and M.
Blattner-Johnson$^*$ and I. Buchhalter$^*$ and R. Buslei and
G. Calaminus and N. Dikow and H. Dohmen and P.
Euskirchen$^*$ and G. Fleischhack and A. Gajjar and N. U.
Gerber and M. Gessi and G. H. Gielen and A. Gnekow and N. G.
Gottardo and C. Haberler and S. Hamelmann$^*$ and V. Hans
and J. R. Hansford and C. Hartmann and F. L. Heppner and P.
H. Driever and K. von Hoff and U. W. Thomale and S. Tippelt
and M. C. Frühwald and C. M. Kramm and U. Schüller and J.
Schittenhelm and M. U. Schuhmann and M. Stein and P.
Ketteler and M. Ladanyi and N. Jabado and B. C. Jones$^*$
and C. Jones and M. A. Karajannis and R. Ketter and P.
Kohlhof and U. Kordes and A. Reinhardt and C. Kölsche and
K. Lamszus and P. Lichter$^*$ and S. L. N. Maas and C.
Mawrin and T. Milde$^*$ and M. Mittelbronn and C.-M.
Monoranu and W. Mueller and M. Mynarek and P. A. Northcott
and K. W. Pajtler$^*$ and W. Paulus and A. Perry and I.
Blümcke and K. H. Plate and M. Platten$^*$ and M. Preusser
and T. Pietsch and M. Prinz and G. Reifenberger$^*$ and B.
W. Kristensen and M. Kool$^*$ and V. Hovestadt and D. W.
Ellison and T. S. Jacques and P. Varlet and N. Etminan and
T. Acker and M. Weller and C. L. White and O. Witt$^*$ and
C. Herold-Mende and J. Debus$^*$ and S. Krieg and W.
Wick$^*$ and M. Snuderl and K. Aldape and S. Brandner and C.
Hawkins and C. Horbinski and C. Thomas and P. Wesseling and
A. von Deimling$^*$ and D. Capper$^*$ and S. M. Pfister$^*$
and D. Jones$^*$ and F. Sahm$^*$},
title = {{A}dvancing {CNS} tumor diagnostics with expanded {DNA}
methylation-based classification.},
journal = {Cancer cell},
volume = {nn},
issn = {1535-6108},
address = {Cambridge, Mass.},
publisher = {Cell Press},
reportid = {DKFZ-2025-02781},
pages = {nn},
year = {2025},
note = {#EA:B062#LA:B300#LA:B360# / epub},
abstract = {DNA methylation-based classification is now central to
contemporary neuro-oncology, as highlighted by the World
Health Organization (WHO) classification of central nervous
system (CNS) tumors. We present the Heidelberg CNS Tumor
Methylation Classifier version 12.8 (v12.8), trained on
7,495 methylation profiles, which expands recognized
entities from 91 classes in version 11 (v11) to 184
subclasses. This expansion is a result of newly identified
tumor types discovered through our large online repository
and global collaborations, underscoring CNS tumor
heterogeneity. The random forest-based classifier achieves
$95\%$ subclass-level accuracy, with its well-calibrated
probabilistic scores providing a reliable measure of
confidence for each classification. Its hierarchical output
structure enables interpretation across subclass, class,
family, and superfamily levels, thereby supporting clinical
decisions at multiple granularities. Comparative analyses
demonstrate that v12.8 surpasses previous versions and
conventional WHO-based approaches. These advances highlight
the improved precision and practical utility of the updated
classifier in personalized neuro-oncology.},
keywords = {CNS tumors (Other) / DNA methylation (Other) / MLOps
(Other) / artificial intelligence (Other) / classification
(Other) / epigenetics (Other) / machine learning (Other) /
molecular diagnostics (Other) / precision medicine (Other) /
tumor heterogeneity (Other)},
cin = {B062 / HD01 / B300 / B360 / FM01 / MU01 / BE01 / B310 /
W500 / W610 / B060 / D170 / ED01 / E050 / B320},
ddc = {610},
cid = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331 /
I:(DE-He78)B300-20160331 / I:(DE-He78)B360-20160331 /
I:(DE-He78)FM01-20160331 / I:(DE-He78)MU01-20160331 /
I:(DE-He78)BE01-20160331 / I:(DE-He78)B310-20160331 /
I:(DE-He78)W500-20160331 / I:(DE-He78)W610-20160331 /
I:(DE-He78)B060-20160331 / I:(DE-He78)D170-20160331 /
I:(DE-He78)ED01-20160331 / I:(DE-He78)E050-20160331 /
I:(DE-He78)B320-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41349541},
doi = {10.1016/j.ccell.2025.11.002},
url = {https://inrepo02.dkfz.de/record/306804},
}