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Spontaneous and Engineered Large Animal Models of Neurofibromatosis Type 1
Review

Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis

Department of Neurosurgery, Kawasaki Municipal Hospital, Shinkawadori, Kanagawa, Kawasaki-ku 210-0013, Japan
Academic Editor: Yo Niida
Int. J. Mol. Sci. 2021, 22(11), 5850; https://doi.org/10.3390/ijms22115850
Received: 28 March 2021 / Revised: 25 May 2021 / Accepted: 28 May 2021 / Published: 29 May 2021
(This article belongs to the Special Issue New Molecular Insights into Neurocutaneous Syndromes)
Neurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of tumors of the central or peripheral nervous system including the brain, spinal cord, organs, skin, and bones. There are three types of NF: NF1 accounting for 96% of all cases, NF2 in 3%, and schwannomatosis (SWN) in <1%. The NF1 gene is located on chromosome 17q11.2, which encodes for a tumor suppressor protein, neurofibromin, that functions as a negative regulator of Ras/MAPK and PI3K/mTOR signaling pathways. The NF2 gene is identified on chromosome 22q12, which encodes for merlin, a tumor suppressor protein related to ezrin-radixin-moesin that modulates the activity of PI3K/AKT, Raf/MEK/ERK, and mTOR signaling pathways. In contrast, molecular insights on the different forms of SWN remain unclear. Inactivating mutations in the tumor suppressor genes SMARCB1 and LZTR1 are considered responsible for a majority of cases. Recently, treatment strategies to target specific genetic or molecular events involved in their tumorigenesis are developed. This study discusses molecular pathways and related targeted therapies for NF1, NF2, and SWN and reviews recent clinical trials which involve NF patients. View Full-Text
Keywords: neurofibromatosis type 1; neurofibromatosis type 2; schwannomatosis; molecular targeted therapy; clinical trial neurofibromatosis type 1; neurofibromatosis type 2; schwannomatosis; molecular targeted therapy; clinical trial
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MDPI and ACS Style

Tamura, R. Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis. Int. J. Mol. Sci. 2021, 22, 5850. https://doi.org/10.3390/ijms22115850

AMA Style

Tamura R. Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis. International Journal of Molecular Sciences. 2021; 22(11):5850. https://doi.org/10.3390/ijms22115850

Chicago/Turabian Style

Tamura, Ryota. 2021. "Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis" International Journal of Molecular Sciences 22, no. 11: 5850. https://doi.org/10.3390/ijms22115850

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