Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis
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)...
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| Format: | Article |
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MDPI AG
2021-05-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/22/11/5850 |
| _version_ | 1797532036718657536 |
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| author | Ryota Tamura |
| author_facet | Ryota Tamura |
| author_sort | Ryota Tamura |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T10:53:21Z |
| format | Article |
| id | doaj.art-195dfc07a48c4fe0a2aa9d7286b2489c |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T10:53:21Z |
| publishDate | 2021-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-195dfc07a48c4fe0a2aa9d7286b2489c2023-11-21T22:02:43ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-05-012211585010.3390/ijms22115850Current Understanding of Neurofibromatosis Type 1, 2, and SchwannomatosisRyota Tamura0Department of Neurosurgery, Kawasaki Municipal Hospital, Shinkawadori, Kanagawa, Kawasaki-ku 210-0013, JapanNeurofibromatosis (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.https://www.mdpi.com/1422-0067/22/11/5850neurofibromatosis type 1neurofibromatosis type 2schwannomatosismolecular targeted therapyclinical trial |
| spellingShingle | Ryota Tamura Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis International Journal of Molecular Sciences neurofibromatosis type 1 neurofibromatosis type 2 schwannomatosis molecular targeted therapy clinical trial |
| title | Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis |
| title_full | Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis |
| title_fullStr | Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis |
| title_full_unstemmed | Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis |
| title_short | Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis |
| title_sort | current understanding of neurofibromatosis type 1 2 and schwannomatosis |
| topic | neurofibromatosis type 1 neurofibromatosis type 2 schwannomatosis molecular targeted therapy clinical trial |
| url | https://www.mdpi.com/1422-0067/22/11/5850 |
| work_keys_str_mv | AT ryotatamura currentunderstandingofneurofibromatosistype12andschwannomatosis |