npj Precision Oncology (Aug 2024)
Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors
- Julia C. Kuehn,
- Patrick Metzger,
- Nicolas Neidert,
- Uta Matysiak,
- Linda Gräßel,
- Ulrike Philipp,
- Sabine Bleul,
- Thomas Pauli,
- Julia Falkenstein,
- Henriette Bertemes,
- Stepan Cysar,
- Maria Elena Hess,
- Anna Verena Frey,
- Jesús Duque-Afonso,
- Elisabeth Schorb,
- Marcia Machein,
- Jürgen Beck,
- Oliver Schnell,
- Nikolas von Bubnoff,
- Anna L. Illert,
- Christoph Peters,
- Tilman Brummer,
- Marco Prinz,
- Cornelius Miething,
- Heiko Becker,
- Silke Lassmann,
- Martin Werner,
- Melanie Börries,
- Justus Duyster,
- Dieter H. Heiland,
- Roman Sankowski,
- Florian Scherer
Affiliations
- Julia C. Kuehn
- Department of Medicine I, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Patrick Metzger
- Institute of Medical Bioinformatics and Systems Medicine, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Nicolas Neidert
- Comprehensive Cancer Center Freiburg, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Uta Matysiak
- Comprehensive Cancer Center Freiburg, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Linda Gräßel
- Department of Medicine I, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Ulrike Philipp
- Department of Medicine I, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Sabine Bleul
- Department of Medicine I, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Thomas Pauli
- Institute of Medical Bioinformatics and Systems Medicine, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Julia Falkenstein
- Department of Medicine I, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Henriette Bertemes
- Department of Medicine I, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Stepan Cysar
- Comprehensive Cancer Center Freiburg, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Maria Elena Hess
- Institute of Medical Bioinformatics and Systems Medicine, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Anna Verena Frey
- Institute for Surgical Pathology, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Jesús Duque-Afonso
- Department of Medicine I, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Elisabeth Schorb
- Department of Medicine I, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Marcia Machein
- Comprehensive Cancer Center Freiburg, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Jürgen Beck
- Comprehensive Cancer Center Freiburg, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Oliver Schnell
- Department of Neurosurgery, Medical Center—University of Freiburg, Faculty of Medicine Freiburg, University of Freiburg
- Nikolas von Bubnoff
- Department of Hematology and Oncology, University Hospital Schleswig-Holstein
- Anna L. Illert
- Department of Medicine I, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Christoph Peters
- Comprehensive Cancer Center Freiburg, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Tilman Brummer
- Comprehensive Cancer Center Freiburg, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Marco Prinz
- Comprehensive Cancer Center Freiburg, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Cornelius Miething
- Department of Medicine I, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Heiko Becker
- Department of Medicine I, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Silke Lassmann
- Comprehensive Cancer Center Freiburg, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Martin Werner
- Comprehensive Cancer Center Freiburg, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Melanie Börries
- Comprehensive Cancer Center Freiburg, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Justus Duyster
- Department of Medicine I, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- Dieter H. Heiland
- Department of Neurosurgery, Medical Center—University of Freiburg, Faculty of Medicine Freiburg, University of Freiburg
- Roman Sankowski
- German Cancer Consortium (DKTK Partner site Freiburg, a partnership between DKFZ and Medical Center—University of Freiburg
- Florian Scherer
- Department of Medicine I, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg
- DOI
- https://doi.org/10.1038/s41698-024-00674-y
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 11
Abstract
Abstract Despite major advances in molecular profiling and classification of primary brain tumors, personalized treatment remains limited for most patients. Here, we explored the feasibility of individual molecular profiling and the efficacy of biomarker-guided therapy for adult patients with primary brain cancers in the real-world setting within the molecular tumor board Freiburg, Germany. We analyzed genetic profiles, personalized treatment recommendations, and clinical outcomes of 102 patients with 21 brain tumor types. Alterations in the cell cycle, BRAF, and mTOR pathways most frequently led to personalized treatment recommendations. Molecularly informed therapies were recommended in 71% and implemented in 32% of patients with completed molecular diagnostics. The disease control rate following targeted treatment was 50% and the overall response rate was 30%, with a progression-free survival 2/1 ratio of at least 1.3 in 31% of patients. This study highlights the efficacy of molecularly guided treatment and the need for biomarker-stratified trials in brain cancers.
