Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use.
Journal
Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060
Informations de publication
Date de publication:
17 08 2021
17 08 2021
Historique:
received:
09
10
2020
accepted:
19
03
2021
pubmed:
8
7
2021
medline:
2
9
2021
entrez:
7
7
2021
Statut:
ppublish
Résumé
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. 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. 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 We summarized emerging clinical use of genotype-phenotype correlations in neurofibromatosis.
Identifiants
pubmed: 34230207
pii: WNL.0000000000012436
doi: 10.1212/WNL.0000000000012436
pmc: PMC8594005
doi:
Substances chimiques
Biomarkers
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
S91-S98Subventions
Organisme : Department of Health
ID : IS-BRC-1215-20007
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : R21 CA208723
Pays : United States
Organisme : NCI NIH HHS
ID : R37 CA230400
Pays : United States
Informations de copyright
© 2021 American Academy of Neurology.
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