Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
dc.contributor.author | Plotkin, SR | |
dc.contributor.author | Messiaen, L | |
dc.contributor.author | Legius, E | |
dc.contributor.author | Pancza, P | |
dc.contributor.author | Avery, RA | |
dc.contributor.author | Blakeley, JO | |
dc.contributor.author | Babovic-Vuksanovic, D | |
dc.contributor.author | Ferner, R | |
dc.contributor.author | Fisher, MJ | |
dc.contributor.author | Friedman, JM | |
dc.contributor.author | Giovannini, M | |
dc.contributor.author | Gutmann, DH | |
dc.contributor.author | Hanemann, Clemens Oliver | |
dc.contributor.author | Kalamarides, M | |
dc.contributor.author | Kehrer-Sawatzki, H | |
dc.contributor.author | Korf, BR | |
dc.contributor.author | Mautner, V-F | |
dc.contributor.author | MacCollin, M | |
dc.contributor.author | Papi, L | |
dc.contributor.author | Rauen, KA | |
dc.contributor.author | Riccardi, V | |
dc.contributor.author | Schorry, E | |
dc.contributor.author | Smith, MJ | |
dc.contributor.author | Stemmer-Rachamimov, A | |
dc.contributor.author | Stevenson, DA | |
dc.contributor.author | Ullrich, NJ | |
dc.contributor.author | Viskochil, D | |
dc.contributor.author | Wimmer, K | |
dc.contributor.author | Yohay, K | |
dc.contributor.author | Huson, SM | |
dc.contributor.author | Wolkenstein, P | |
dc.contributor.author | Evans, DG | |
dc.contributor.author | Anten, M | |
dc.contributor.author | Aylsworth, A | |
dc.contributor.author | Baralle, D | |
dc.contributor.author | Barbarot, S | |
dc.contributor.author | Barker, F | |
dc.contributor.author | Ben-Shachar, S | |
dc.contributor.author | Bergner, A | |
dc.contributor.author | Bessis, D | |
dc.contributor.author | Blanco, I | |
dc.contributor.author | Cassiman, C | |
dc.contributor.author | Ciavarelli, P | |
dc.contributor.author | Clementi, M | |
dc.contributor.author | Frébourg, T | |
dc.contributor.author | Gomes, A | |
dc.contributor.author | Halliday, D | |
dc.contributor.author | Helen Hanson Arvid Heiberg, CH | |
dc.contributor.author | Joly, P | |
dc.contributor.author | Jordan, JT | |
dc.contributor.author | Karajannis, M | |
dc.contributor.author | Kroshinsky, D | |
dc.contributor.author | Larralde, M | |
dc.contributor.author | Lázaro, C | |
dc.contributor.author | Le, L | |
dc.contributor.author | Link, M | |
dc.contributor.author | Listernick, R | |
dc.contributor.author | Mallucci, C | |
dc.contributor.author | Merker, VL | |
dc.contributor.author | Moertel, C | |
dc.contributor.author | Mueller, A | |
dc.contributor.author | Ngeow, J | |
dc.contributor.author | Oostenbrink, R | |
dc.contributor.author | Packer, R | |
dc.contributor.author | Parry, A | |
dc.contributor.author | Peltonen, J | |
dc.contributor.author | Pichard, D | |
dc.contributor.author | Poppe, B | |
dc.contributor.author | Rezende, N | |
dc.contributor.author | Rodrigues, LO | |
dc.contributor.author | Rosser, T | |
dc.contributor.author | Ruggieri, M | |
dc.contributor.author | Serra, E | |
dc.contributor.author | Steinke-Lange, V | |
dc.contributor.author | Stivaros, SM | |
dc.contributor.author | Taylor, A | |
dc.contributor.author | Toelen, J | |
dc.contributor.author | Tonsgard, J | |
dc.contributor.author | Trevisson, E | |
dc.contributor.author | Upadhyaya, M | |
dc.contributor.author | Varan, A | |
dc.contributor.author | Wilson, M | |
dc.contributor.author | Wu, H | |
dc.contributor.author | Zadeh, G | |
dc.date.accessioned | 2022-07-29T10:25:39Z | |
dc.date.issued | 2022-06-09 | |
dc.identifier.issn | 1530-0366 | |
dc.identifier.issn | 1530-0366 | |
dc.identifier.uri | http://hdl.handle.net/10026.1/19464 | |
dc.description.abstract |
PURPOSE: Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 and SWN by incorporating recent advances in genetics, ophthalmology, neuropathology, and neuroimaging. METHODS: We used a multistep process, beginning with a Delphi method involving global disease experts and subsequently involving non-neurofibromatosis clinical experts, patients, and foundations/patient advocacy groups. RESULTS: We reached consensus on the minimal clinical and genetic criteria for diagnosing NF2 and SWN. These criteria incorporate mosaic forms of these conditions. In addition, we recommend updated nomenclature for these disorders to emphasize their phenotypic overlap and to minimize misdiagnosis with neurofibromatosis type 1. CONCLUSION: The updated criteria for NF2 and SWN incorporate clinical features and genetic testing, with a focus on using molecular data to differentiate the 2 conditions. It is likely that continued refinement of these new criteria will be necessary as investigators study the diagnostic properties of the revised criteria and identify new genes associated with SWN. In the revised nomenclature, the term "neurofibromatosis 2" has been retired to improve diagnostic specificity. | |
dc.format.extent | 1967-1977 | |
dc.format.medium | Print-Electronic | |
dc.language | en | |
dc.language.iso | eng | |
dc.publisher | American College of Medical Genetics and Genomics | |
dc.subject | lztr1 | |
dc.subject | NF2 | |
dc.subject | Neurofibromatosis | |
dc.subject | Schwannomatosis | |
dc.subject | SMARCB1 | |
dc.title | Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation | |
dc.type | journal-article | |
dc.type | Journal Article | |
dc.type | Research Support, Non-U.S. Gov't | |
dc.type | Research Support, N.I.H., Extramural | |
plymouth.author-url | https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000855692500017&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=11bb513d99f797142bcfeffcc58ea008 | |
plymouth.issue | 9 | |
plymouth.volume | 24 | |
plymouth.publication-status | Published | |
plymouth.journal | Genetics in Medicine | |
dc.identifier.doi | 10.1016/j.gim.2022.05.007 | |
plymouth.organisational-group | /Plymouth | |
plymouth.organisational-group | /Plymouth/Faculty of Health | |
plymouth.organisational-group | /Plymouth/Faculty of Health/Peninsula Medical School | |
plymouth.organisational-group | /Plymouth/REF 2021 Researchers by UoA | |
plymouth.organisational-group | /Plymouth/REF 2021 Researchers by UoA/UoA01 Clinical Medicine | |
plymouth.organisational-group | /Plymouth/Research Groups | |
plymouth.organisational-group | /Plymouth/Research Groups/Institute of Translational and Stratified Medicine (ITSMED) | |
plymouth.organisational-group | /Plymouth/Research Groups/Institute of Translational and Stratified Medicine (ITSMED)/CBR | |
plymouth.organisational-group | /Plymouth/Users by role | |
plymouth.organisational-group | /Plymouth/Users by role/Academics | |
plymouth.organisational-group | /Plymouth/Users by role/Researchers in ResearchFish submission | |
dc.publisher.place | United States | |
dcterms.dateAccepted | 2022-05-09 | |
dc.rights.embargodate | 2022-7-30 | |
dc.identifier.eissn | 1530-0366 | |
dc.rights.embargoperiod | Not known | |
rioxxterms.versionofrecord | 10.1016/j.gim.2022.05.007 | |
rioxxterms.licenseref.uri | http://www.rioxx.net/licenses/all-rights-reserved | |
rioxxterms.licenseref.startdate | 2022-06-08 | |
rioxxterms.type | Journal Article/Review |