Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Mais filtros

Base de dados
Ano de publicação
Tipo de documento
Intervalo de ano de publicação
1.
Neurology ; 97(7 Suppl 1): S91-S98, 2021 08 17.
Artigo em Inglês | MEDLINE | ID: mdl-34230207

RESUMO

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.


Assuntos
Estudos de Associação Genética , Neurofibromatoses/diagnóstico , Neurofibromatoses/genética , Biomarcadores/análise , Genes da Neurofibromatose 1/fisiologia , Humanos , Neurilemoma/diagnóstico , Neurilemoma/genética , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Neurofibromatose 2/diagnóstico , Neurofibromatose 2/genética , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA