LB1084 Developing uniform datasets for tissue based studies of cutaneous neurofibromas

Cutaneous neurofibromas (cNF) are complex tumors of the skin in individuals with neurofibromatosis type 1 (NF1), a syndrome affecting approximately 1:3,000 persons worldwide. There are no drug therapies for these tumors, and current treatment is limited to various procedure-based approaches. A critical need in conducting meaningful translational studies of these tumors is to have high quality tissue samples representing the diversity of human cutaneous tumors. Multiple challenges exist, including a lack of standardized sample collection or analysis protocols, non-universal terminology for cNF, different methods for the removal of tumors, and varied patient privacy requirements across countries. Investigators and field experts engaged in an initiative towards targeting cNF have identified criteria for prospective tissue collection, including the use of uniform terminology, sample collection methods, and clinical datasets that are compliant with international requirements for future cNF translational studies. These recommendations now provide clinical and translational scientists with a common set of guidelines to collect and study cNF biospecimens to enable more meaningful translational studies with increased clinical impact.