Pediatric high-grade gliomas in patients with neurofibromatosis type 1—A collaborative cohort study from the SIOPE HGG/DIPG working group
Year: 2025
Type: article
Abstract: AbstractAbstract Background We assessed clinical features, treatment, and survival of pediatric patients with neurofibromatosis type 1 (NF1) with high-grade glioma (HGG). Methods Patients from this retrospective cohort study were identified through an international collaborative effort by the SIOPE HGG/DIPG working group. NF1 was diagnosed based on clinical presentation and confirmed by either a pathogenic germline NF1 gene alteration or the exclusion of mismatch repair deficiency. A control cohort without genetic cancer predisposition was matched in a 2:1-ratio from the HIT-HGG database. Results We identified 29 pediatric patients with NF1-associated HGG. Median age at diagnosis of HGG was 11 years. All but 1 tumor arose outside the optic pathway and included circumscribed and diffuse HGG. Molecular analysis in a subset of tumors identified an enrichment of alterations in CDKN2A, TP53, and ATRX. Event-free and overall survival were as poor as in matched sporadic HGG patients. The prognosis was not superior with upfront radiotherapy compared with delayed radiotherapy. Conclusions NF1-associated HGGs behave as aggressively as their sporadic counterparts. The relevance of delaying radiotherapy until the time of progression and adjuvant MEK inhibitor treatment needs further investigation.
Source: Neuro-Oncology Practice
DOI: 10.1093/nop/npaf104
Authors: Michael Karremann, Tabea Gerdes, Gerrit H Gielen, Robert Kwiecien, Thomas Perwein, Marion Hoffmann, Amedeo A Azizi, Florian Babor, Carla Barrios-Bussmann, Lars Behrens, Martin Benesch, Luca Bertero, Veronica Biassoni, Brigitte Bison, Francesca R Buttarelli, Gabriele Calaminus, Alexander Claviez, Felix Distelmaier, Martin Ebinger, Moatasem Elayadi, Jana Ernst, Matthias Eyrich, Gudrun Fleischhack, Carsten Friedrich, Lea L Friker, Maria Luisa Garre, Nicolas U Gerber, Johannes Gojo, Darren Hargrave, Svenja Häuser, Pablo Hernaiz-Driever, Stefan Holm, Marcus Jakob, Stephanie Knirsch, Christian Kratz, Jeanne Marie Krischer, Caspar Kühnöl, Ella Kumirova, Maura Massimino, Maria Vinci, Lisethe Meijer, Markus Metzler, Claudia Milanaccio, Andres Morales La Madrid, Giovanni Morana, Gunther Nussbaumer, Gianluca Piccolo, Bianca Pollo, Guido Reifenberger, Christian Reimann, Thorsten Rosenbaum, Elisabetta Schiavello, Jaroslav Sterba, Dominik Sturm, Elwira Szychot, Chiara Valentini, Stefano Gabriele Vallero, Eunike Velleuer-Carlberg, Miriam van Buiren, Angela Mastronuzzi, Dannis van Vuurden, André O von Bueren, Maria Wiese, Claudia Zinke, Jozef Zlocha, Torsten Pietsch, Christof M Kramm
Institutions: Heidelberg University, University Medical Centre Mannheim, Medizinische Fakultät Mannheim, University of Bonn, University of Münster, Medical University of Graz, Universitätsmedizin Göttingen, University of Göttingen, Comprehensive Cancer Center Vienna, Medical University of Vienna, Düsseldorf University Hospital, University of Augsburg, Azienda Ospedaliera Citta' della Salute e della Scienza di Torino, University of Turin, Fondazione IRCCS Istituto Nazionale dei Tumori, Sapienza University of Rome, University Hospital Bonn, Medizinische Hochschule Hannover, University Hospital Schleswig-Holstein, Universitätsklinikum Tübingen, University Children's Hospital Tübingen, Cairo University, Children Cancer Hospital, Jena University Hospital, Universitätsklinikum Würzburg, Essen University Hospital, Carl von Ossietzky Universität Oldenburg, Klinikum Oldenburg, Istituto Giannina Gaslini, University Children's Hospital Zurich, University College London, Humboldt-Universität zu Berlin, Charité - Universitätsmedizin Berlin, Karolinska University Hospital, University Hospital Regensburg, Olgahospital, Klinikum Stuttgart, University Hospital in Halle, Pirogov Russian National Research Medical University, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, Princess Máxima Center, Universitätsklinikum Erlangen, Hospital Sant Joan de Déu Barcelona, University of Genoa, Fondazione IRCCS Istituto Neurologico Carlo Besta, Heinrich Heine University Düsseldorf, Universität Ulm, University Hospital Ulm, Sana Kliniken Duisburg, University Hospital Brno, German Cancer Research Center, University Hospital Heidelberg, Hopp Children's Cancer Center Heidelberg, Deutsches Konsortium für Translationale Krebsforschung, Pomeranian Medical University, University Hospital Carl Gustav Carus, Technische Universität Dresden, Ospedale Regina Margherita, Helios Klinikum Krefeld, University of Freiburg, University Medical Center Freiburg, University Hospital of Geneva, Medizinische Universität Lausitz - Carl Thiem
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: green
Award: G8434726412
OpenAlex ID: W7085193384