Background We assessed clinical features, treatment, and survival of pediatric patients with neurofibromatosis type 1 (NF1) with high-grade glioma (HGG).Methods 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.Results 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.Conclusions 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.
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., 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., Pediatric high-grade gliomas in patients with neurofibromatosis type 1 - A collaborative cohort study from the SIOPE HGG/DIPG working group, <<NEURO ONCOLOGY PRACTICE>>, 2026; 13 (1): 71-85. [doi:10.1093/nop/npaf104] [https://hdl.handle.net/10807/332630]
Pediatric high-grade gliomas in patients with neurofibromatosis type 1 - A collaborative cohort study from the SIOPE HGG/DIPG working group
Mastronuzzi, AngelaWriting – Review & Editing
;
2026
Abstract
Background We assessed clinical features, treatment, and survival of pediatric patients with neurofibromatosis type 1 (NF1) with high-grade glioma (HGG).Methods 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.Results 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.Conclusions 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.
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