Article
Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.
Nature medicine - 1 Apr 2023
Sturm Dominik, Capper David, Andreiuolo Felipe, Gessi Marco, Kölsche Christian, Reinhardt Annekathrin, Sievers Philipp, Wefers Annika K, Ebrahimi Azadeh, Suwala Abigail K, Gielen Gerrit H, Sill Martin, Schrimpf Daniel, Stichel Damian, Hovestadt Volker, Daenekas Bjarne, Rode Agata, Hamelmann Stefan, Previti Christopher, Jäger Natalie, Buchhalter Ivo, Blattner-Johnson Mirjam, Jones Barbara C, Warmuth-Metz Monika, Bison Brigitte, Grund Kerstin, Sutter Christian, Hirsch Steffen, Dikow Nicola, Hasselblatt Martin, Schüller Ulrich, Koch Arend, Gerber Nicolas U, White Christine L, Buntine Molly K, Kinross Kathryn, Algar Elizabeth M, Hansford Jordan R, Gottardo Nicholas G, Schuhmann Martin U, Thomale Ulrich W, Hernáiz Driever Pablo, Gnekow Astrid, Witt Olaf, Müller Hermann L, Calaminus Gabriele, Fleischhack Gudrun, Kordes Uwe, Mynarek Martin, Rutkowski Stefan, Frühwald Michael C, Kramm Christof M, von Deimling Andreas, Pietsch Torsten, Sahm Felix, Pfister Stefan M, Jones David T W
Abstract excerpt
The large diversity of central nervous system (CNS) tumor types in children and adolescents results in disparate patient outcomes and renders accurate diagnosis challenging. In this study, we prospectively integrated DNA methylation profiling and targeted gene panel sequencing with blinded neuropathological reference diagnostics for a population-based cohort of more than 1,200 newly diagnosed pediatric patients...
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