%0 Journal Article
%A Morfouace, Marie
%A Bielle, Franck
%A Razis, Evangelia
%A Estrade, Florian
%A Rubio, Alba
%A Bautista, Francisco
%A de Rojas, Teresa
%A Vieito, Maria
%A Meade, Sara
%A Sanson, Marc
%A Marques, Andreia Capela
%A Preusser, Matthias
%A Hatcher, Helen
%A Balasubramanian, Gnana Prakash
%A Pineda, Estela
%A D'Hondt, Lionel
%A Duerinck, Johnny
%A Michotte, Alex
%A Mawrin, Christian
%A Ribalta, Teresa
%A Marucci, Gianluca
%A Golfinopoulos, Vassilis
%A Pfister, Stefan M
%A Jones, David Tw
%A McCabe, Martin G
%T Molecular analysis of adolescent and young adult high grade gliomas in the SPECTA-AYA study: Poorly characterised tumours with frequent germline alterations.
%J European journal of cancer
%V 223
%@ 0959-8049
%C Amsterdam [u.a.]
%I Elsevier
%M DKFZ-2025-01044
%P 115493
%D 2025
%X 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 
%K AYA (Other)
%K Actionable alterations (Other)
%K Adolescent (Other)
%K Constitutional mutations (Other)
%K High grade glioma (Other)
%K Young adult (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:40393126
%R 10.1016/j.ejca.2025.115493
%U https://inrepo02.dkfz.de/record/301505