Biobank Tissue for NF1 Research

Christine Pratilas, M.D. (Johns Hopkins University)

Patient derived tissue represents a core tool that is critical to support research that will improve our understanding of disease formation mechanisms for neurofibromas, and help drive the discovery of new therapeutics for NF1 patients. As part of our commitment to providing research tools to help NF1 investigators, NTAP has dedicated itself to the establishment and ongoing support of a NF1 biospecimen repository containing high quality, clinically annotated tissue to help drive your research efforts.

The Johns Hopkins NF1 Biospecimen Repository is an NTAP funded initiative led under the direction of Dr. Christine Pratilas. This biorepository takes advantage of 1) one of the busiest NF clinics in the country, with NF medical physicians and surgeons invested in the process of tissue collection and banking, and 2) unique expertise and experience in tissue acquisition and handling. A biorepository of tissue, buffy coat, plasma and serum from patients with NF1 who are undergoing surgical removal of a lesion including a cutaneous neurofibroma, an atypical neurofibroma, a diffuse infiltrating neurofibroma, MPNST, as well as breast, GIST, and glioma has been established. Following surgery, all biospecimens are swiftly processed and banked following procedures outlined by the NCI Best Practices.  Biospecimens are pathologically diagnosed, undergo genomic characterization studies, and are maintained in a fully annotated clinical database.  Furthermore biospecimens are processed and xenografted quickly (to minimize ischemia time), all vials are labeled prior to aliquot division to ensure accurate identification of specimens, and all tumor specimens removed from different anatomical locations or different locations within the same tumor are clearly identified and labeled as such.