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dc.contributor.authorHanemann, Clemens Oliver
dc.date.accessioned2021-04-01T15:07:21Z
dc.date.issued2021-08-17
dc.identifier.issn0028-3878
dc.identifier.issn1526-632X
dc.identifier.urihttp://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.extentS91-S98
dc.language.isoen
dc.publisherAmerican Academy of Neurology
dc.subjectGenetic Testing
dc.subjectRare Diseases
dc.subjectNeurosciences
dc.subjectPrevention
dc.subjectNeurofibromatosis
dc.subjectPediatric
dc.subjectGenetics
dc.subject4.1 Discovery and preclinical testing of markers and technologies
dc.titleREiNS: Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical use
dc.typejournal-article
dc.typeJournal Article
plymouth.author-urlhttps://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000692794400011&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=11bb513d99f797142bcfeffcc58ea008
plymouth.issue7
plymouth.volume97
plymouth.publication-statusPublished
plymouth.journalNeurology
dc.identifier.doi10.1212/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.dateAccepted2021-03-19
dc.rights.embargodate2022-7-6
dc.identifier.eissn1526-632X
dc.rights.embargoperiodNot known
rioxxterms.versionofrecord10.1212/WNL.0000000000012436
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2021-08-17
rioxxterms.typeJournal Article/Review


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