TY  - JOUR
AU  - Patel, Areeba Jamilkhan
AU  - Göbel, Kirsten
AU  - Ille, Sebastian
AU  - Hinz, Felix
AU  - Schoebe, Natalie
AU  - Bogumil, Henri
AU  - Meyer, Jochen
AU  - Brehm, Michelle
AU  - Kardo, Helin
AU  - Schrimpf, Daniel
AU  - Lomakin, Artem
AU  - Ritter, Michael
AU  - Göller, Pauline
AU  - Kerbs, Paul
AU  - Pfeifer, Lisa
AU  - Hamelmann, Stefan
AU  - Blume, Christina
AU  - Ippen, Franziska
AU  - Berghaus, Natalie
AU  - Euskirchen, Philipp
AU  - Schweizer, Leonille
AU  - Hultschig, Claus
AU  - Van Roy, Nadine
AU  - Van Dorpe, Jo
AU  - Van der Meulen, Joni
AU  - Loontiens, Siebe
AU  - Dedeurwaerdere, Franceska
AU  - Leske, Henning
AU  - Halldórsson, Skarphéðinn
AU  - Fox, Graeme
AU  - Deacon, Simon
AU  - Cahyani, Inswasti
AU  - Holmes, Nadine
AU  - Wibowo, Satrio
AU  - Munro, Rory
AU  - Martin, Dan
AU  - Sharif, Abid
AU  - Housley, Mark
AU  - Goldspring, Robert
AU  - Brandner, Sebastian
AU  - Roy, Somak
AU  - Hench, Jürgen
AU  - Frank, Stephan
AU  - Unterberg, Andreas
AU  - Goidts, Violaine
AU  - Jäger, Natalie
AU  - Paine, Simon
AU  - Smith, Stuart
AU  - Herold-Mende, Christel
AU  - Wick, Wolfgang
AU  - Pfister, Stefan
AU  - Vik-Mo, Einar O
AU  - von Deimling, Andreas
AU  - Krieg, Sandro
AU  - Jones, David Tw
AU  - Loose, Matthew
AU  - Schlesner, Matthias
AU  - Sill, Martin
AU  - Sahm, Felix
TI  - Prospective, multicenter validation of a platform for rapid molecular profiling of central nervous system tumors.
JO  - Nature medicine
VL  - 31
IS  - 5
SN  - 1078-8956
CY  - [New York, NY]
PB  - Springer Nature
M1  - DKFZ-2025-00638
SP  - 1567-1577
PY  - 2025
N1  - #EA:B300#LA:B300#LA:B062# / 2025 May;31(5):1567-1577
AB  - Molecular data integration plays a central role in central nervous system (CNS) tumor diagnostics but currently used assays pose limitations due to technical complexity, equipment and reagent costs, as well as lengthy turnaround times. We previously reported the development of Rapid-CNS2, an adaptive-sampling-based nanopore sequencing workflow. Here we comprehensively validated and further developed Rapid-CNS2 for intraoperative use. It now offers real-time methylation classification and DNA copy number information within a 30-min intraoperative window, followed by comprehensive molecular profiling within 24 h, covering the complete spectrum of diagnostically and therapeutically relevant information for the respective entity. We validated Rapid-CNS2 in a multicenter setting on 301 archival and prospective samples including 18 samples sequenced intraoperatively. To broaden the utility of methylation-based CNS tumor classification, we developed MNP-Flex, a platform-agnostic methylation classifier encompassing 184 classes. MNP-Flex achieved 99.6
LB  - PUB:(DE-HGF)16
C6  - pmid:40133526
DO  - DOI:10.1038/s41591-025-03562-5
UR  - https://inrepo02.dkfz.de/record/300147
ER  -