Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical use

Abstract

<jats:sec><jats:title>Objective:</jats:title><jats:p>As clinically validated biomarkers for neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2), have not been identified to date, we wanted to determine whether genotype-phenotype correlations are usefull in clinical trials in Neurofibromatosis 1 and 2</jats:p></jats:sec><jats:sec><jats:title>Methods:</jats:title><jats:p>The 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 tumours (MPNST). The group then met during a series of consensus meetings to develop a joint report.</jats:p></jats:sec><jats:sec><jats:title>Results:</jats:title><jats:p>We found that In NF2 the genetic severity score is clearly of potential clinical use. In NF1 despite over 3000 constitutional variants having been described in the <jats:italic>NF1</jats:italic> gene, only four actionable genotype phenotype correlations currently exist. The diagnosis and treatment decision of these tumours should ideally include histopathology and compilation of some of the genetic markers</jats:p></jats:sec><jats:sec><jats:title>Conclusion:</jats:title><jats:p>We summarized emerging clinical use of genotype-phenotype correlations in Neurofibromatosis.</jats:p></jats:sec>