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Record W4416996465 · doi:10.1016/j.ccell.2025.11.002

Advancing CNS tumor diagnostics with expanded DNA methylation-based classification

2025· article· en· W4416996465 on OpenAlexaff
Martin Sill, Daniel Schrimpf, Areeba Patel, Dominik Sturm, Natalie Jäger, Philipp Sievers, Leonille Schweizer, Rouzbeh Banan, David L. Reuss, Abigail K. Suwala, Andrey Korshunov, Damian Stichel, Annika K. Wefers, Ann‐Christin Hau, Henning B. Boldt, Patrick N. Harter, Zied Abdullaev, Jamal Benhamida, Daniel Teichmann, Arend Koch, Jürgen Hench, Frank Stephan, Martin Hasselblatt, Sheila Mansouri, Theresita Díaz de Ståhl, Jonathan Serrano, Jonas Ecker, Florian Selt, Michael V. Taylor, Vijay Ramaswamy, Florence M.G. Cavalli, Brigitte Bison, Mirjam Blattner-Johnson, Ivo Buchhalter, Rolf Buslei, Gabriele Calaminus, Nicola Dikow, Hildegard Dohmen, Philipp Euskirchen, Gudrun Fleischhack, Amar Gajjar, Nicolas U. Gerber, Marco Gessi, Gerrit H. Gielen, Astrid Gnekow, Nicholas G. Gottardo, Christine Haberler, Stefan Hamelmann, Volkmar Hans, Jordan R. Hansford, Christian Hartmann, Frank L. Heppner, Pablo Hernáiz Driever, Katja von Hoff, Ulrich W. Thomale, Stephan Tippelt, Michael C. Frühwald, Christof M. Kramm, Ulrich Schüller, Jens Schittenhelm, Martin U. Schuhmann, Marco Stein, Petra Ketteler, Marc Ladanyi, Nada Jabado, Barbara C. Jones, Chris Jones, Matthias A. Karajannis, Ralf Ketter, Patricia Kohlhof, Uwe Kordes, Annekathrin Reinhardt, Christian Kölsche, Katrin Lamszus, Péter Lichter, Sybren L. N. Maas, Christian Mawrin, Till Milde, Michel Mittelbronn, Camelia‐Maria Monoranu, Wolf Mueller, Martin Mynarek, Paul A. Northcott, Kristian W. Pajtler, Werner Paulus, Arie Perry, Ingmar Blümcke, Karl H. Plate, Michael Platten, Matthias Preusser, Torsten Pietsch, Marco Prinz, Guido Reifenberger, Bjarne Winther Kristensen, Marcel Kool, Volker Hovestadt, David W. Ellison, Thomas S. Jacques, Pascale Varlet, Nima Etminan, Till Acker, Michael Weller, Christine L. White, Olaf Witt, Christel Herold‐Mende, Jürgen Debus, Sandro M. Krieg, Wolfgang Wick, Matija Snuderl, Ken Aldape, Sebastian Brandner, Cynthia Hawkins, Craig Horbinski, Christian Thomas, Pieter Wesseling, Andreas von Deimling, David Capper, Stefan M. Pfister, David Jones, Felix Sahm

Bibliographic record

VenueCancer Cell · 2025
Typearticle
Languageen
FieldMedicine
TopicGlioma Diagnosis and Treatment
Canadian institutionsMcGill University Health CentreHospital for Sick ChildrenPrincess Margaret Cancer Centre
FundersNational Institute of Neurological Disorders and StrokeServierNational Cancer InstituteNational Institutes of HealthUniversitätsklinikum HeidelbergDeutsche KinderkrebsstiftungDeutsches KrebsforschungszentrumMemorial Sloan-Kettering Cancer Center
KeywordsClassifier (UML)Probabilistic logicDNA methylationProbabilistic classificationPrecision medicineBrain tumor

Abstract

fetched live from OpenAlex

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.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.003
metaresearch head score (Gemma)0.010
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.015

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.010
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.001
Science and technology studies0.0000.000
Scholarly communication0.0020.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.001

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.014
GPT teacher head0.290
Teacher spread0.276 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations16
Published2025
Admission routes1
Has abstractyes

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