Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use.
Neurology
; 97(7 Suppl 1): S91-S98, 2021 08 17.
Article
em En
| MEDLINE
| ID: mdl-34230207
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Neurofibromatoses
/
Estudos de Associação Genética
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article