OBJECTIVE: To summarize existing biomarker data for cutaneous neurofibroma (cNF) and inform the incorporation of biomarkers into clinical trial design for cNFs. METHODS: The cNF working group, a subgroup of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) consortium, was formed to review and inform clinical trial design for cNFs. Between June 2018 and February 2020, the cNF working group performed a review of existing data on genetic biomarkers for cNFs in the setting of Neurofibromatosis Type 1 (NF1). We also reviewed criteria for successful biomarker application in the clinic. The group then met during a series of meetings to develop a consensus report.RESULTS: Our systematic literature review of existing data revealed a lack of validated biomarkers for cNFs. In our report, we summarize the existing signaling, genomic, transcriptomic, histopathologic and proteomic data relevant to cNF. Finally, we make recommendations for incorporating exploratory aims for predictive biomarkers in clinical trials through biobanking samples.CONCLUSION: These recommendations are intended to provide both researchers and clinicians with best practices for clinical trial design to aid in the identification of clinically validated biomarkers for cNF.
View details for DOI 10.1212/WNL.0000000000012426
View details for PubMedID 34230199