Patient derived tissues are a critical tool to support the ongoing research that improves our understanding of disease formation mechanisms, and helps drive the discovery of new therapeutics.  As part of its commitment to providing research tools to help investigators, the Neurofibromatosis Therapy Acceleration Program (NTAP) ( at the Johns Hopkins University School of Medicine has supported the establishment of a Neurofibromatosis Type 1 (NF1) biospecimen repository at Johns Hopkins.  The goals of this program are the preservation of high quality, clinically-annotated tissue collected from patients with NF1 at the time of surgery, and the sharing of these materials to drive research efforts in NF1-associated tumors, with a focus on plexiform neurofibromas and cutaneous neurofibromas.

NF1 is a common neurogenetic syndrome with an estimated prevalence of 1/2500-1/3000 individuals.  Tumors that occur commonly in people with NF1 include plexiform neurofibromas, cutaneous neurofibromas and malignant peripheral nerve sheath tumors.  These tumors, however, are rare, and there have not historically been many available tissue-derived resources to fuel research that will ultimately improve patient outcomes.

Under the leadership of Dr. Christine Pratilas, and including a team comprised of Dr. Allan Belzberg, Dr. Carol Morris, Dr. Fausto Rodriguez, Dr. Jaishri Blakeley, Ms. Bronwyn Slobogean, and Ms. Kai Pollard, a biorepository of tissue and blood fractions from patients with NF1 has been established.  Following surgery, and with the patients’ approval, all biospecimens are swiftly processed and banked following procedures outlined by the NCI Best Practices (, undergo detailed pathological review, and are maintained in parallel with a fully annotated clinical database.  The sample inventory includes cutaneous neurofibroma, atypical neurofibroma, diffuse infiltrating neurofibroma, plexiform neurofibroma, and MPNST, and corresponding blood fractions.  The samples in the repository comprise flash frozen tissue, viably frozen tissue, slides from paraffin embedded tissue, viably frozen cells, cell lines, and patient derived xenografts.  The banked samples are also genomically characterized at the Center for Integrated Disease Research (CIDR) at Johns Hopkins, and results from these genomic studies, in addition to results from other NF1 projects sponsored by NTAP, are posted to the NF portal, managed by Sage Bionetworks.  Investigators from around the world and from any research background or environment are encouraged to submit a request for samples.  The sample request is reviewed by the study team and once approved, samples are sent free of charge to the requesting scientific team.

By making samples available for ordering, and genetic data openly available to the global research community, the investigators and sponsors hope to improve access to these critical tools for advancing NF1 research.

The Johns Hopkins University is an academic institution based in Baltimore, Maryland.

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