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@ARTICLE{Sill:285055,
author = {Sill, Martin and Schrimpf, Daniel and Patel, Areeba and
Sturm, Dominik and Jäger, Natalie and Sievers, Philipp and
Schweizer, Leonille and Banan, Rouzbeh and Reuss, David and
Suwala, Abigail and Korshunov, Andrey and Stichel, Damian
and Wefers, Annika K and Hau, Ann-Christin and Boldt,
Henning and Harter, Patrick N and Abdullaev, Zied and
Benhamida, Jamal and Teichmann, Daniel and Koch, Arend and
Hench, Jürgen and Frank, Stephan and Hasselblatt, Martin
and Mansouri, Sheila and Díaz de Ståhl, Theresita and
Serrano, Jonathan and Ecker, Jonas and Selt, Florian and
Taylor, Michael and Ramaswamy, Vijay and Cavalli, Florence
and Berghoff, Anna S and Bison, Brigitte and
Blattner-Johnson, Mirjam and Buchhalter, Ivo and Buslei,
Rolf and Calaminus, Gabriele and Dikow, Nicola and Dohmen,
Hildegard and Euskirchen, Philipp and Fleischhack, Gudrun
and Gajjar, Amar and Gerber, Nicolas U and Gessi, Marco and
Gielen, Gerrit H and Gnekow, Astrid and Gottardo, Nicholas G
and Haberler, Christine and Hamelmann, Stefan and Hans,
Volkmar and Hansford, Jordan R and Hartmann, Christian and
Heppner, Frank L and Driever, Pablo Hernaiz and von Hoff,
Katja and Thomale, Ulrich W and Tippelt, Stephan and
Frühwald, Michael C and Kramm, Christof M and Schüller,
Ulrich and Schittenhelm, Jens and Schuhmann, Martin U and
Stein, Marco and Ketteler, Petra and Ladanyi, Marc and
Jabado, Nada and Jones, Barbara C and Jones, Chris and
Karajannis, Matthias A and Ketter, Ralf and Kohlhof,
Patricia and Kordes, Uwe and Reinhardt, Annekathrin and
Kölsche, Christian and Lamszus, Katrin and Lichter, Peter
and Maas, Sybren L N and Mawrin, Christian and Milde, Till
and Mittelbronn, Michel and Monoranu, Camelia-Maria and
Mueller, Wolf and Mynarek, Martin and Northcott, Paul A and
Pajtler, Kristian W and Paulus, Werner and Perry, Arie and
Blümcke, Ingmar and Plate, Karl H and Platten, Michael and
Preusser, Matthias and Pietsch, Torsten and Prinz, Marco and
Reifenberger, Guido and Kristensen, Bjarne W and Kool,
Marcel and Hovestadt, Volker and Ellison, David W and
Jacques, Thomas S and Varlet, Pascale and Etminan, Nima and
Acker, Till and Weller, Michael and White, Christine L and
Witt, Olaf and Herold-Mende, Christel and Debus, Jürgen and
Krieg, Sandro and Wick, Wolfgang and Snuderl, Matija and
Aldape, Ken and Brandner, Sebastian and Hawkins, Cynthia and
Horbinski, Craig and Thomas, Christian and Wesseling, Pieter
and von Deimling, Andreas and Capper, David and Pfister,
Stefan M and Jones, David T W and Sahm, Felix},
title = {{A}dvancing {CNS} tumor diagnostics with expanded {DNA}
methylation-based classification.},
journal = {Cancer cell},
volume = {Advance online publication},
issn = {1535-6108},
address = {Cambridge, Mass.},
publisher = {Cell Press},
reportid = {DZNE-2026-00179},
pages = {-},
year = {2026},
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 = {AG Heppner},
ddc = {610},
cid = {I:(DE-2719)1810007},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41349541},
doi = {10.1016/j.ccell.2025.11.002},
url = {https://pub.dzne.de/record/285055},
}