TY  - JOUR
AU  - Morfouace, Marie
AU  - Bielle, Franck
AU  - Razis, Evangelia
AU  - Estrade, Florian
AU  - Rubio, Alba
AU  - Bautista, Francisco
AU  - de Rojas, Teresa
AU  - Vieito, Maria
AU  - Meade, Sara
AU  - Sanson, Marc
AU  - Marques, Andreia Capela
AU  - Preusser, Matthias
AU  - Hatcher, Helen
AU  - Balasubramanian, Gnana Prakash
AU  - Pineda, Estela
AU  - D'Hondt, Lionel
AU  - Duerinck, Johnny
AU  - Michotte, Alex
AU  - Mawrin, Christian
AU  - Ribalta, Teresa
AU  - Marucci, Gianluca
AU  - Golfinopoulos, Vassilis
AU  - Pfister, Stefan M
AU  - Jones, David Tw
AU  - McCabe, Martin G
TI  - Molecular analysis of adolescent and young adult high grade gliomas in the SPECTA-AYA study: Poorly characterised tumours with frequent germline alterations.
JO  - European journal of cancer
VL  - 223
SN  - 0959-8049
CY  - Amsterdam [u.a.]
PB  - Elsevier
M1  - DKFZ-2025-01044
SP  - 115493
PY  - 2025
AB  - Adolescent and young adult (AYA) high grade gliomas (HGG) have the worst survival of AYA malignancies yet are poorly represented in large-scale molecular datasets.50 AYAs aged 12-29 with newly diagnosed or recurrent HGG and other high risk central nervous system (CNS) tumours were prospectively recruited to the EORTC SPECTA platform study and underwent whole exome sequencing, RNA sequencing and methylation profiling, with central pathological review. Actionable mutations were reported and patients followed up for therapies and outcome.From 46 locally diagnosed HGGs and 4 other recurrent CNS tumours, molecular and pathology review resulted in histological grade re-classification (n = 10), diagnostic refinement (n = 9) and revised diagnoses (n = 12) in a substantial proportion. Pathogenic constitutional alterations were present in 14 
KW  - AYA (Other)
KW  - Actionable alterations (Other)
KW  - Adolescent (Other)
KW  - Constitutional mutations (Other)
KW  - High grade glioma (Other)
KW  - Young adult (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:40393126
DO  - DOI:10.1016/j.ejca.2025.115493
UR  - https://inrepo02.dkfz.de/record/301505
ER  -