(P 250) SHARING HIGH-QUALITY SAMPLES AND DATA TO THE NF1 RESEARCH COMMUNITY: THE ROLE OF THE JOHNS HOPKINS NF1 BIOSPECIMEN REPOSITORY

Objective: Neurofibromatosis type 1 is a common neuro-genetic condition caused by mutations in the NF1 gene. It constitutes an autosomal dominant condition with a predisposition to benign and malignant tumors, including cutaneous neurofibromas (cNF), plexiform neurofibromas (pNF), atypical neurofibromatous neoplasms of uncertain biologic potential (ANNUBP) and malignant peripheral nerve sheath tumors (MPNST). Progress in the development of nonsurgical therapy for pNF and MPNST has in the past been limited by several factors, including the limited access to primary tissue from patients with NF1 and the limited number of cell culture-based and animal models to adequately support research advances.

Methods: We have established and expanded the Johns Hopkins NF1 Biospecimen Repository, which includes quality-controlled, clinically and genomically- annotated samples from patients with NF1. Samples included in the biorepository are blood fractions, frozen tumor tissue, paraffin embedded tissue, single cell suspensions, and cell line and xenograft models to propagate primary human tissue and cells. Banked specimens also undergo comprehensive genomic characterization using whole exome sequencing (WES) and RNAseq, and data are available through the NF Data Portal. A comprehensive clinically-annotated database includes NF1-associated clinical symptoms, tumor characteristics and outcomes data. An internal scientific review process allows for researchers outside our institution to request access to specimens, cell line and PDX models, and genomic data, and accompanying de-identified clinical information for their research.

Results: Since its inception in January 2016, over 300 unique samples have been banked (from 157 unique patients), and include plexiform neurofibroma (n=86), MPNST (n=56), cutaneous neurofibroma (n=89), blood fractions, and xenografts (n=7) specimens. 60 researchers from outside institutions have requested access to our specimens. RNAseq data (n=67) and WES data (n=102) are available through the NF Data Portal.

Conclusion: The Johns Hopkins NF1 Biospecimen Repository represents a high-quality, clinically, and genomically characterized resource for ongoing scientific efforts in the NF1 research community.