Journal Article

DKFZ-2026-00554

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Pediatric high-grade gliomas in patients with neurofibromatosis type 1-A collaborative cohort study from the SIOPE HGG/DIPG working group.

Karremann, M. ; Gerdes, T. ; Gielen, G. H. ; Kwiecien, R. ; Perwein, T. ; Hoffmann, M. ; Azizi, A. A. ; Babor, F. ; Barrios-Bussmann, C. ; Behrens, L. ; Benesch, M. ; Bertero, L. ; Biassoni, V. ; Bison, B. ; Buttarelli, F. R. ; Calaminus, G. ; Claviez, A. ; Distelmaier, F. ; Ebinger, M. ; Elayadi, M. ; Ernst, J. ; Eyrich, M. ; Fleischhack, G. ; Friedrich, C. ; Friker, L. L. ; Garre, M. L. ; Gerber, N. U. ; Gojo, J. ; Hargrave, D. ; Häuser, S. ; Hernaiz-Driever, P. ; Holm, S. ; Jakob, M. ; Knirsch, S. ; Kratz, C. ; Krischer, J. M. ; Kühnöl, C. ; Kumirova, E. ; Massimino, M. ; Vinci, M. ; Meijer, L. ; Metzler, M. ; Milanaccio, C. ; La Madrid, A. M. ; Morana, G. ; Nussbaumer, G. ; Piccolo, G. ; Pollo, B. ; Reifenberger, G. ; Reimann, C. ; Rosenbaum, T. ; Schiavello, E. ; Sterba, J. ; Sturm, D.DKFZ* ; Szychot, E. ; Valentini, C. ; Vallero, S. G. ; Velleuer-Carlberg, E. ; van Buiren, M. ; Mastronuzzi, A. ; van Vuurden, D. ; von Bueren, A. O. ; Wiese, M. ; Zinke, C. ; Zlocha, J. ; Pietsch, T. ; Kramm, C. M.

2026
Oxford Univ. Press Oxford

Abstract: We assessed clinical features, treatment, and survival of pediatric patients with neurofibromatosis type 1 (NF1) with high-grade glioma (HGG).Patients from this retrospective cohort study were identified through an international collaborative effort by the SIOPE HGG/DIPG working group. NF1 was diagnosed based on clinical presentation and confirmed by either a pathogenic germline NF1 gene alteration or the exclusion of mismatch repair deficiency. A control cohort without genetic cancer predisposition was matched in a 2:1-ratio from the HIT-HGG database.We identified 29 pediatric patients with NF1-associated HGG. Median age at diagnosis of HGG was 11 years. All but 1 tumor arose outside the optic pathway and included circumscribed and diffuse HGG. Molecular analysis in a subset of tumors identified an enrichment of alterations in CDKN2A, TP53, and ATRX. Event-free and overall survival were as poor as in matched sporadic HGG patients. The prognosis was not superior with upfront radiotherapy compared with delayed radiotherapy.NF1-associated HGGs behave as aggressively as their sporadic counterparts. The relevance of delaying radiotherapy until the time of progression and adjuvant MEK inhibitor treatment needs further investigation.

Keyword(s): MEK inhibitor ; NF1 ; children ; high-grade glioma ; radiotherapy

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Contributing Institute(s):

1. Pädiatrische Gliomforschung (B360)
2. DKTK HD zentral (HD01)

Research Program(s):

1. 312 - Funktionelle und strukturelle Genomforschung (POF4-312) (POF4-312)

Appears in the scientific report 2026

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Database coverage:
; Clarivate Analytics Master Journal List ; Ebsco Academic Search ; Emerging Sources Citation Index ; IF < 5 ; JCR ; SCOPUS ; Web of Science Core Collection

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