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@ARTICLE{Pfaff:294929,
author = {E. Pfaff$^*$ and K. Schramm$^*$ and M. Blattner-Johnson$^*$
and B. C. Jones$^*$ and S. Stark$^*$ and G. P.
Balasubramanian$^*$ and C. Previti$^*$ and R. J. Autry$^*$
and P. Fiesel$^*$ and F. Sahm$^*$ and D. Reuss$^*$ and A.
von Deimling$^*$ and C. M. van Tilburg$^*$ and K. W.
Pajtler$^*$ and T. Milde$^*$ and U. Dirksen and C. M. Kramm
and A. O. von Bueren and M. C. Munthe-Kaas and I. Øra and
S. M. Pfister$^*$ and O. Witt$^*$ and D. Jones$^*$},
title = {{P}ediatric spinal high-grade glioma in the pediatric
precision oncology registry {INFORM}: identification of
potential therapeutic targets},
journal = {Neuro-oncology advances},
volume = {7},
number = {1},
issn = {2632-2498},
address = {Oxford},
publisher = {Oxford University Press},
reportid = {DKFZ-2024-02636},
pages = {vdae185},
year = {2025},
note = {#EA:B360#LA:B360# / Volume 7, Issue 1, January-December
2025, vdae185},
abstract = {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.},
cin = {B360 / B310 / B062 / B300 / HD01 / ED01 / W610},
ddc = {610},
cid = {I:(DE-He78)B360-20160331 / I:(DE-He78)B310-20160331 /
I:(DE-He78)B062-20160331 / I:(DE-He78)B300-20160331 /
I:(DE-He78)HD01-20160331 / I:(DE-He78)ED01-20160331 /
I:(DE-He78)W610-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:39896072},
doi = {10.1093/noajnl/vdae185},
url = {https://inrepo02.dkfz.de/record/294929},
}