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

International Journal of Molecular Sciences

Olha Storozhuk¹  Anja Harder¹  Eberhard Sorge¹  Maximilian Scheer²  Julian Prell²  Sandra Leisz²  Ivy Ho³ 

[1] Department of Neuropathology, Institute of Pathology, Medical Faculty, Martin Luther University Halle-Wittenberg, Magdeburger Str. 14, 06112 Halle, Germany;Department of Neurosurgery, Medical Faculty, Martin Luther University Halle-Wittenberg, Ernst-Grube-Straße 40, 06120 Halle, Germany;Department of Research, National Neuroscience Institute, Singapore 308433, Singapore;

关键词: glioblastoma;    neurofibromatosis;    NF1;    neurofibromin;    mesenchymal;    invasiveness;   

DOI  :  10.3390/ijms23010352

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown