TY  - JOUR
AU  - Pfaff, Elke
AU  - Schramm, Kathrin
AU  - Blattner-Johnson, Mirjam
AU  - Jones, Barbara C
AU  - Stark, Sebastian
AU  - Balasubramanian, Gnana Prakash
AU  - Previti, Christopher
AU  - Autry, Robert J
AU  - Fiesel, Petra
AU  - Sahm, Felix
AU  - Reuss, David
AU  - von Deimling, Andreas
AU  - van Tilburg, Cornelis M
AU  - Pajtler, Kristian W
AU  - Milde, Till
AU  - Dirksen, Uta
AU  - Kramm, Christof M
AU  - von Bueren, André O
AU  - Munthe-Kaas, Monica C
AU  - Øra, Ingrid
AU  - Pfister, Stefan M
AU  - Witt, Olaf
AU  - Jones, David
TI  - Pediatric spinal high-grade glioma in the pediatric precision oncology registry INFORM: identification of potential therapeutic targets
JO  - Neuro-oncology advances
VL  - 7
IS  - 1
SN  - 2632-2498
CY  - Oxford
PB  - Oxford University Press
M1  - DKFZ-2024-02636
SP  - vdae185
PY  - 2025
N1  - #EA:B360#LA:B360# / Volume 7, Issue 1, January-December 2025, vdae185
AB  - Background: High-grade glioma (HGG) of the spinal cord constitute rare tumors in the pediatric population. Knowledge of the molecular profile of this pediatric HGG (pedHGG) subgroup is limited and the clinical outcome is poor. Therefore, the aim of this study is to provide more profound investigations of molecular characteristics and clinical features of these tumors. Methods: Between 01/2015 and 10/2023 seventeen spinal tumors with HGG histology were analyzed by the INFORM precision oncology registry. Comprehensive molecular profiling (including next-generation sequencing approaches and DNA methylation analysis) was performed. Clinical data provided by the treating centers was evaluated regarding treatment approaches and outcome. Results: Subgroup classification based on DNA methylation analysis revealed molecular HGG subgroups in 12/17 cases, while 2/17 were classified as molecular low-grade glioma (LGG) and 3/17 were not unequivocally classifiable. Typical genetic alterations described in pedHGG usually presenting at other localizations were also present in the counterparts located in the spinal cohort. Alterations which might serve as promising target for personalized therapy approaches were identified in a subset of tumors.Conclusion: With this cohort of 12 molecularly confirmed spinal pedHGG cases we provide a compilation of genomic as well as clinical features of this rare subgroup, contributing to a better understanding and eventually to future treatment approaches.
LB  - PUB:(DE-HGF)16
C6  - pmid:39896072
DO  - DOI:10.1093/noajnl/vdae185
UR  - https://inrepo02.dkfz.de/record/294929
ER  -