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Pediatric spinal high-grade glioma in the pediatric precision oncology registry INFORM : Identification of potential therapeutic targets

Pfaff, Elke ; Schramm, Kathrin ; Blattner-Johnson, Mirjam ; Jones, Barbara C. ; Stark, Sebastian ; Balasubramanian, Gnana Prakash ; Previti, Christopher ; Autry, Robert J. ; Fiesel, Petra and Sahm, Felix , et al. (2025) In Neuro-Oncology Advances 7(1).
Abstract

Background: High-grade glioma (HGG) of the spinal cord constitutes 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 January 2015 and October 2023, 17 spinal tumors with HGG histology were analyzed by the Individualized Therapy For Relapsed Malignancies in Childhood (INFORM) precision oncology registry. Comprehensive molecular profiling (including next-generation sequencing approaches and DNA methylation analysis) was performed. Clinical data provided by the treating... (More)

Background: High-grade glioma (HGG) of the spinal cord constitutes 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 January 2015 and October 2023, 17 spinal tumors with HGG histology were analyzed by the Individualized Therapy For Relapsed Malignancies in Childhood (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 were evaluated regarding treatment approaches and outcomes. 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 that might serve as a 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.

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publishing date
type
Contribution to journal
publication status
published
subject
keywords
molecular characterization, pediatric spinal high-grade glioma, therapeutic targets
in
Neuro-Oncology Advances
volume
7
issue
1
article number
vdae185
publisher
Oxford University Press
external identifiers
  • scopus:85217259975
  • pmid:39896072
DOI
10.1093/noajnl/vdae185
language
English
LU publication?
yes
id
8a1a4931-9d42-49f8-a3d3-592f2bf433d1
date added to LUP
2025-06-02 08:33:19
date last changed
2025-06-16 09:27:57
@article{8a1a4931-9d42-49f8-a3d3-592f2bf433d1,
  abstract     = {{<p>Background: High-grade glioma (HGG) of the spinal cord constitutes 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 January 2015 and October 2023, 17 spinal tumors with HGG histology were analyzed by the Individualized Therapy For Relapsed Malignancies in Childhood (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 were evaluated regarding treatment approaches and outcomes. 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 that might serve as a 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.</p>}},
  author       = {{Pfaff, Elke and Schramm, Kathrin and Blattner-Johnson, Mirjam and Jones, Barbara C. and Stark, Sebastian and Balasubramanian, Gnana Prakash and Previti, Christopher and Autry, Robert J. and Fiesel, Petra and Sahm, Felix and Reuss, David and Von Deimling, Andreas and Van Tilburg, Cornelis M. and Pajtler, Kristian W. and Milde, Till and Dirksen, Uta and Kramm, Christof M. and Von Bueren, André O. and Munthe-Kaas, Monica C. and Øra, Ingrid and Pfister, Stefan M. and Witt, Olaf and Jones, David T.W.}},
  keywords     = {{molecular characterization; pediatric spinal high-grade glioma; therapeutic targets}},
  language     = {{eng}},
  number       = {{1}},
  publisher    = {{Oxford University Press}},
  series       = {{Neuro-Oncology Advances}},
  title        = {{Pediatric spinal high-grade glioma in the pediatric precision oncology registry INFORM : Identification of potential therapeutic targets}},
  url          = {{http://dx.doi.org/10.1093/noajnl/vdae185}},
  doi          = {{10.1093/noajnl/vdae185}},
  volume       = {{7}},
  year         = {{2025}},
}