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Review

Neurofibromatosis Type 1 Gene Alterations Define Specific Features of a Subset of Glioblastomas

1
Department of Neurosurgery, Medical Faculty, Martin Luther University Halle-Wittenberg, Ernst-Grube-Straße 40, 06120 Halle, Germany
2
Department of Neuropathology, Institute of Pathology, Medical Faculty, Martin Luther University Halle-Wittenberg, Magdeburger Str. 14, 06112 Halle, Germany
3
Department of Research, National Neuroscience Institute, Singapore 308433, Singapore
4
Institute of Neuropathology, University Hospital Münster, 48149 Münster, Germany
5
Brandenburg Medical School Theodor Fontane, Faculty of Health Sciences, Joint Faculty of the Brandenburg University, 16816 Neuruppin, Germany
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Academic Editor: Giovanni Luca Gravina
Int. J. Mol. Sci. 2022, 23(1), 352; https://doi.org/10.3390/ijms23010352
Received: 25 October 2021 / Revised: 14 December 2021 / Accepted: 24 December 2021 / Published: 29 December 2021
Neurofibromatosis type 1 (NF1) gene mutations or alterations occur within neurofibromatosis type 1 as well as in many different malignant tumours on the somatic level. In glioblastoma, NF1 loss of function plays a major role in inducing the mesenchymal (MES) subtype and, therefore defining the most aggressive glioblastoma. This is associated with an immune signature and mediated via the NF1–MAPK–FOSL1 axis. Specifically, increased invasion seems to be regulated via mutations in the leucine-rich domain (LRD) of the NF1 gene product neurofibromin. Novel targets for therapy may arise from neurofibromin deficiency-associated cellular mechanisms that are summarised in this review. View Full-Text
Keywords: glioblastoma; neurofibromatosis; NF1; neurofibromin; mesenchymal; invasiveness; LRD domain glioblastoma; neurofibromatosis; NF1; neurofibromin; mesenchymal; invasiveness; LRD domain
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MDPI and ACS Style

Scheer, M.; Leisz, S.; Sorge, E.; Storozhuk, O.; Prell, J.; Ho, I.; Harder, A. Neurofibromatosis Type 1 Gene Alterations Define Specific Features of a Subset of Glioblastomas. Int. J. Mol. Sci. 2022, 23, 352. https://doi.org/10.3390/ijms23010352

AMA Style

Scheer M, Leisz S, Sorge E, Storozhuk O, Prell J, Ho I, Harder A. Neurofibromatosis Type 1 Gene Alterations Define Specific Features of a Subset of Glioblastomas. International Journal of Molecular Sciences. 2022; 23(1):352. https://doi.org/10.3390/ijms23010352

Chicago/Turabian Style

Scheer, Maximilian, Sandra Leisz, Eberhard Sorge, Olha Storozhuk, Julian Prell, Ivy Ho, and Anja Harder. 2022. "Neurofibromatosis Type 1 Gene Alterations Define Specific Features of a Subset of Glioblastomas" International Journal of Molecular Sciences 23, no. 1: 352. https://doi.org/10.3390/ijms23010352

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