REiNS: Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical use
dc.contributor.author | Hanemann, Clemens Oliver | |
dc.date.accessioned | 2021-04-01T15:07:21Z | |
dc.date.issued | 2021-08-17 | |
dc.identifier.issn | 0028-3878 | |
dc.identifier.issn | 1526-632X | |
dc.identifier.uri | http://hdl.handle.net/10026.1/17018 | |
dc.description.abstract |
Objective: Because clinically validated biomarkers for neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2) have not been identified, we aimed to determine whether genotype-phenotype correlations are useful in clinical trials in NF1 and NF2. Methods: The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) Biomarker Group first performed a systematic literature search and reviewed existing data on genetic biomarkers in NF1 and NF2 and in in malignant peripheral nerve sheath tumors. The group then met during a series of consensus meetings to develop a joint report. Results: We found that in NF2, the genetic severity score is clearly of potential clinical use. In NF1, despite over 3,000 constitutional variants having been described in the NF1 gene, only 4 actionable genotype-phenotype correlations exist. The diagnosis and treatment decision of these tumors should ideally include histopathology and compilation of some of the genetic markers. Conclusion: We summarized emerging clinical use of genotype-phenotype correlations in neurofibromatosis. | |
dc.format.extent | S91-S98 | |
dc.language.iso | en | |
dc.publisher | American Academy of Neurology | |
dc.subject | Genetic Testing | |
dc.subject | Rare Diseases | |
dc.subject | Neurosciences | |
dc.subject | Prevention | |
dc.subject | Neurofibromatosis | |
dc.subject | Pediatric | |
dc.subject | Genetics | |
dc.subject | 4.1 Discovery and preclinical testing of markers and technologies | |
dc.title | REiNS: Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical use | |
dc.type | journal-article | |
dc.type | Journal Article | |
plymouth.author-url | https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000692794400011&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=11bb513d99f797142bcfeffcc58ea008 | |
plymouth.issue | 7 | |
plymouth.volume | 97 | |
plymouth.publication-status | Published | |
plymouth.journal | Neurology | |
dc.identifier.doi | 10.1212/WNL.0000000000012436 | |
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 | |
dcterms.dateAccepted | 2021-03-19 | |
dc.rights.embargodate | 2022-7-6 | |
dc.identifier.eissn | 1526-632X | |
dc.rights.embargoperiod | Not known | |
rioxxterms.versionofrecord | 10.1212/WNL.0000000000012436 | |
rioxxterms.licenseref.uri | http://www.rioxx.net/licenses/all-rights-reserved | |
rioxxterms.licenseref.startdate | 2021-08-17 | |
rioxxterms.type | Journal Article/Review |