Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis

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)...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:International journal of molecular sciences 2021-05, Vol.22 (11), p.5850
1. Verfasser: Tamura, Ryota
Format: Artikel
Sprache:eng
Schlagworte:
Review
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page
container_issue 11
container_start_page 5850
container_title International journal of molecular sciences
container_volume 22
creator Tamura, Ryota
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
doi_str_mv 10.3390/ijms22115850
format Article
fullrecord <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8198724</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2536471328</sourcerecordid><originalsourceid>FETCH-LOGICAL-c427t-8fc80e023bb2ab779bc7801bf4e0d97353cf5f57dc6aa018fb0933785461109e3</originalsourceid><addsrcrecordid>eNpVkE1LAzEYhIMotlZv_oAcPXQ1n5vsRZDiR6HowfYcstmk3dJNarKr9N-70ir19A7M8LzDAHCN0S2lBbqr100iBGMuOToBQ8wIyRDKxemRHoCLlNYIEUp4cQ4GlCFBuGBDMJ10MVrfwoWvbEyt9lXtlzA4-Gq7GFxdxtDoNqQ6wfluayEeQzKGfQy-m9WX9v7XvgRnTm-SvTrcEVg8Pc4nL9ns7Xk6eZhlhhHRZtIZiWzfpCyJLoUoSiMkwqVjFlWFoJwaxx0Xlcm1Rli6EhWUCslZjjEqLB2B-z1325WNrUxfPuqN2sa60XGngq7Vf8fXK7UMn0riQgrCesDNARDDR2dTq5o6GbvZaG9DlxThNGcCUyL76HgfNTGkFK37e4OR-llfHa9PvwEbNXdE</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2536471328</pqid></control><display><type>article</type><title>Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis</title><source>MDPI - Multidisciplinary Digital Publishing Institute</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><creator>Tamura, Ryota</creator><creatorcontrib>Tamura, Ryota</creatorcontrib><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 &lt;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.</description><identifier>ISSN: 1422-0067</identifier><identifier>EISSN: 1422-0067</identifier><identifier>DOI: 10.3390/ijms22115850</identifier><identifier>PMID: 34072574</identifier><language>eng</language><publisher>MDPI</publisher><subject>Review</subject><ispartof>International journal of molecular sciences, 2021-05, Vol.22 (11), p.5850</ispartof><rights>2021 by the author. 2021</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c427t-8fc80e023bb2ab779bc7801bf4e0d97353cf5f57dc6aa018fb0933785461109e3</citedby><cites>FETCH-LOGICAL-c427t-8fc80e023bb2ab779bc7801bf4e0d97353cf5f57dc6aa018fb0933785461109e3</cites><orcidid>0000-0002-8637-901X</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8198724/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8198724/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids></links><search><creatorcontrib>Tamura, Ryota</creatorcontrib><title>Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis</title><title>International journal of molecular sciences</title><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 &lt;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.</description><subject>Review</subject><issn>1422-0067</issn><issn>1422-0067</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><recordid>eNpVkE1LAzEYhIMotlZv_oAcPXQ1n5vsRZDiR6HowfYcstmk3dJNarKr9N-70ir19A7M8LzDAHCN0S2lBbqr100iBGMuOToBQ8wIyRDKxemRHoCLlNYIEUp4cQ4GlCFBuGBDMJ10MVrfwoWvbEyt9lXtlzA4-Gq7GFxdxtDoNqQ6wfluayEeQzKGfQy-m9WX9v7XvgRnTm-SvTrcEVg8Pc4nL9ns7Xk6eZhlhhHRZtIZiWzfpCyJLoUoSiMkwqVjFlWFoJwaxx0Xlcm1Rli6EhWUCslZjjEqLB2B-z1325WNrUxfPuqN2sa60XGngq7Vf8fXK7UMn0riQgrCesDNARDDR2dTq5o6GbvZaG9DlxThNGcCUyL76HgfNTGkFK37e4OR-llfHa9PvwEbNXdE</recordid><startdate>20210529</startdate><enddate>20210529</enddate><creator>Tamura, Ryota</creator><general>MDPI</general><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-8637-901X</orcidid></search><sort><creationdate>20210529</creationdate><title>Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis</title><author>Tamura, Ryota</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c427t-8fc80e023bb2ab779bc7801bf4e0d97353cf5f57dc6aa018fb0933785461109e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Review</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tamura, Ryota</creatorcontrib><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>International journal of molecular sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tamura, Ryota</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis</atitle><jtitle>International journal of molecular sciences</jtitle><date>2021-05-29</date><risdate>2021</risdate><volume>22</volume><issue>11</issue><spage>5850</spage><pages>5850-</pages><issn>1422-0067</issn><eissn>1422-0067</eissn><abstract>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 &lt;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.</abstract><pub>MDPI</pub><pmid>34072574</pmid><doi>10.3390/ijms22115850</doi><orcidid>https://orcid.org/0000-0002-8637-901X</orcidid><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 1422-0067
ispartof International journal of molecular sciences, 2021-05, Vol.22 (11), p.5850
issn 1422-0067
1422-0067
language eng
recordid cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8198724
source MDPI - Multidisciplinary Digital Publishing Institute; EZB-FREE-00999 freely available EZB journals; PubMed Central
subjects Review
title Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-04T04%3A48%3A33IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Current%20Understanding%20of%20Neurofibromatosis%20Type%201,%202,%20and%20Schwannomatosis&rft.jtitle=International%20journal%20of%20molecular%20sciences&rft.au=Tamura,%20Ryota&rft.date=2021-05-29&rft.volume=22&rft.issue=11&rft.spage=5850&rft.pages=5850-&rft.issn=1422-0067&rft.eissn=1422-0067&rft_id=info:doi/10.3390/ijms22115850&rft_dat=%3Cproquest_pubme%3E2536471328%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2536471328&rft_id=info:pmid/34072574&rfr_iscdi=true