Molecular characterization and clinical features of diffuse midline glioma in the pediatric precision oncology registry INFORM
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F25%3A10503927" target="_blank" >RIV/00064203:_____/25:10503927 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/25:10503927
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=WdAji72FJC" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=WdAji72FJC</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s00401-025-02945-9" target="_blank" >10.1007/s00401-025-02945-9</a>
Alternative languages
Result language
angličtina
Original language name
Molecular characterization and clinical features of diffuse midline glioma in the pediatric precision oncology registry INFORM
Original language description
Diffuse midline glioma (DMG; a subtype of pediatric high-grade glioma) is a fatal disease in children, due to the localization in critical structures of the central nervous system, its invasive nature, and limited treatment options. Molecularly, DMG with loss of histone 3 K27 trimethylation (mostly through the typical K27M-mutation in histone 3) have been relatively well characterized, however, no unambiguous Achilles' heel for targeted therapeutic approaches could be identified to date. This study integrates detailed molecular characteristics of pediatric DMGs with clinical data in a large, international cohort in order to contribute to a better understanding necessary for further development of therapeutic approaches. A total of 162 DMG tumors were analyzed within the INFORM registry from 01/2015 to 11/2023 using comprehensive molecular profiling (including exome, whole-genome and RNA next-generation sequencing approaches, complemented with DNA methylation analysis). Molecular results were correlated with clinical data of the respective patients including the treatment regimen applied and patients' outcomes. This well-defined cohort of histone 3 K27-altered DMG according to the current WHO classification showed typical molecular alterations for this entity, with differences in frequencies in specific subgroups. The presence of TP53 mutation and the absence of MAPK pathway alteration in the tumors were associated with worse outcomes. In a substantial proportion of patients, genetic alterations serving as targets for potential therapeutic approaches could be identified. This large, international, prospective DMG cohort combines comprehensive molecular characterization of the tumors with registry-level clinical data, thereby contributing to a better understanding of the underlying tumor biology, potential prognostic and predictive markers and the potential impact of targeted therapies.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30204 - Oncology
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Acta Neuropathologica
ISSN
0001-6322
e-ISSN
1432-0533
Volume of the periodical
150
Issue of the periodical within the volume
1
Country of publishing house
DE - GERMANY
Number of pages
17
Pages from-to
42
UT code for WoS article
001590925300001
EID of the result in the Scopus database
2-s2.0-105018398953