Prospective, multicenter validation of a platform for rapid molecular profiling of central nervous system tumors

Patel, Areeba; Göbel, Kirsten; Ille, Sebastian; Hinz, Felix; Schoebe, Natalie; Bogumil, Henri; Meyer, Jochen; Brehm, Michelle; Kardo, Helin; Schrimpf, Daniel; Lomakin, Artem; Ritter, Michael; Göller, Pauline; Kerbs, Paul; Pfeifer, Lisa; Hamelmann, Stefan; Blume, Christina; Ippen, Franziska M.; Berghaus, Natalie; Euskirchen, Philipp; Schweizer, Leonille; Hultschig, Claus; Van Roy, Nadine; Van Dorpe, Jo; Van der Meulen, Joni; Loontiens, Siebe; Dedeurwaerdere, Franceska; Leske, Henning; Halldórsson, Skarphéðinn; Fox, Graeme; Deacon, Simon; Cahyani, Inswasti; Holmes, Nadine; Wibowo, Satrio; Munro, Rory; Martin, Dan; Sharif, Abid; Housley, Mark; Goldspring, Robert; Brandner, Sebastian; Roy, Somak; Hench, Jürgen; Frank, Stephan; Unterberg, Andreas; Goidts, Violaine; Jäger, Natalie; Paine, Simon; Smith, Stuart; Herold-Mende, Christel; Wick, Wolfgang; Pfister, Stefan M.; Vik-Mo, Einar O.; von Deimling, Andreas; Krieg, Sandro; Jones, David T.W.; Loose, Matthew; Schlesner, Matthias; Sill, Martin; Sahm, Felix

doi:10.1038/s41591-025-03562-5

All Outputs (3)

ROBIN: A unified nanopore-based assay integrating intraoperative methylome classification and next-day comprehensive profiling for ultra-rapid tumor diagnosis (2025)
Journal Article
Deacon, S., Cahyani, I., Holmes, N., Fox, G., Munro, R., Wibowo, S., Murray, T., Mason, H., Housley, M., Martin, D., Sharif, A., Patel, A., Goldspring, R., Brandner, S., Sahm, F., Smith, S., Paine, S., & Loose, M. (2025). ROBIN: A unified nanopore-based assay integrating intraoperative methylome classification and next-day comprehensive profiling for ultra-rapid tumor diagnosis. Neuro-Oncology, https://doi.org/10.1093/neuonc/noaf103

Background
Advances in our technological capacity to interrogate CNS tumor biology have led to the ever increasing use of genomic sequencing in diagnostic decision making. Presently, CNS tumors are classified based on their epigenetic signatures, le... Read More about ROBIN: A unified nanopore-based assay integrating intraoperative methylome classification and next-day comprehensive profiling for ultra-rapid tumor diagnosis.

Genomic landscape of diffuse glioma revealed by whole genome sequencing (2025)
Journal Article
Kinnersley, B., Jung, J., Cornish, A. J., Chubb, D., Laxton, R., Frangou, A., Gruber, A. J., Sud, A., Caravagna, G., Sottoriva, A., Wedge, D. C., Booth, T., Al-Sarraj, S., Lawrence, S. E., Albanese, E., Anichini, G., Baxter, D., Boukas, A., Chowdhury, Y. A., D’Urso, P., …Ashkan, K. (2025). Genomic landscape of diffuse glioma revealed by whole genome sequencing. Nature Communications, 16(1), Article 4233. https://doi.org/10.1038/s41467-025-59156-9

Diffuse gliomas are the commonest malignant primary brain tumour in adults. Herein, we present analysis of the genomic landscape of adult glioma, by whole genome sequencing of 403 tumours (256 glioblastoma, 89 astrocytoma, 58 oligodendroglioma; 338 p... Read More about Genomic landscape of diffuse glioma revealed by whole genome sequencing.

Prospective, multicenter validation of a platform for rapid molecular profiling of central nervous system tumors (2025)
Journal Article
Patel, A., Göbel, K., Ille, S., Hinz, F., Schoebe, N., Bogumil, H., Meyer, J., Brehm, M., Kardo, H., Schrimpf, D., Lomakin, A., Ritter, M., Göller, P., Kerbs, P., Pfeifer, L., Hamelmann, S., Blume, C., Ippen, F. M., Berghaus, N., Euskirchen, P., …Sahm, F. (2025). Prospective, multicenter validation of a platform for rapid molecular profiling of central nervous system tumors. Nature Medicine, https://doi.org/10.1038/s41591-025-03562-5

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... Read More about Prospective, multicenter validation of a platform for rapid molecular profiling of central nervous system tumors.