C Oliver Hanemann1, Jaishri O Blakeley2, Fabio P Nunes2, Kent Robertson2, Anat Stemmer-Rachamimov2, Victor Mautner2, Andreas Kurtz2, Michael Ferguson2, Brigitte C Widemann2, D Gareth Evans2, Rosalie Ferner2, Steven L Carroll2, Bruce Korf2, Pierre Wolkenstein2, Pamela Knight2, Scott R Plotkin2. 1. From Plymouth University (C.O.H.), Peninsula Schools of Medicine and Dentistry, The Institute of Translational and Stratified Medicine, Plymouth, UK; Department of Neurology (J.O.B.), Johns Hopkins University Medical School, Baltimore, MD; Department of Pediatrics (F.P.N.) and Department of Pediatrics, School of Medicine (K.R., M.F.), Indiana University; Tailored Therapeutics (F.P.N.), Eli Lilly and Company, Indianapolis, IN; Department of Pathology (A.S.-R.), Neuro-oncology (S.R.P.), Massachusetts General Hospital, Boston; Neurologische Klinik (V.M.), Uniklinik Eppendorf, Hamburg; Berlin-Brandenburg Center for Regenerative Therapies (A.K.), Charité Universitätsmedizin Berlin, Germany; Seoul National University (A.K.), College of Veterinary Medicine and Research Institute for Veterinary Science, Republic of Korea; NCI (B.C.W.), Pediatric Oncology Branch, Bethesda, MD; Genomic Medicine (D.G.E.), University of Manchester, UK; National Neurofibromatosis Service (R.F.), Department of Neurology, Guy's and St. Thomas' NHS Foundation Trust, London UK; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; and Heflin Center for Genomic Sciences (B.K.), University of Alabama at Birmingham; Dermatology (P.W.), GHU Henri Mondor, Paris, France; Children's Tumor Foundation (P.K.), New York. Oliver.Hanemann@plymouth.ac.uk. 2. From Plymouth University (C.O.H.), Peninsula Schools of Medicine and Dentistry, The Institute of Translational and Stratified Medicine, Plymouth, UK; Department of Neurology (J.O.B.), Johns Hopkins University Medical School, Baltimore, MD; Department of Pediatrics (F.P.N.) and Department of Pediatrics, School of Medicine (K.R., M.F.), Indiana University; Tailored Therapeutics (F.P.N.), Eli Lilly and Company, Indianapolis, IN; Department of Pathology (A.S.-R.), Neuro-oncology (S.R.P.), Massachusetts General Hospital, Boston; Neurologische Klinik (V.M.), Uniklinik Eppendorf, Hamburg; Berlin-Brandenburg Center for Regenerative Therapies (A.K.), Charité Universitätsmedizin Berlin, Germany; Seoul National University (A.K.), College of Veterinary Medicine and Research Institute for Veterinary Science, Republic of Korea; NCI (B.C.W.), Pediatric Oncology Branch, Bethesda, MD; Genomic Medicine (D.G.E.), University of Manchester, UK; National Neurofibromatosis Service (R.F.), Department of Neurology, Guy's and St. Thomas' NHS Foundation Trust, London UK; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; and Heflin Center for Genomic Sciences (B.K.), University of Alabama at Birmingham; Dermatology (P.W.), GHU Henri Mondor, Paris, France; Children's Tumor Foundation (P.K.), New York.
Abstract
OBJECTIVE: Clinically validated biomarkers for neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis (SWN) have not been identified to date. The biomarker working group's goals are to (1) define biomarker needs in NF1, NF2, and SWN; (2) summarize existing data on biomarkers in NF1, NF2, and SWN; (3) outline recommendations for sample collection and biomarker development; and (4) standardize sample collection and methodology protocols where possible to promote comparison between studies by publishing standard operating procedures (SOPs). METHODS: The biomarker group reviewed published data on biomarkers in NF1, NF2, and SWN and on biobanking efforts outside these diseases via literature search, defined the need for biomarkers in NF, and developed recommendations in a series of consensus meetings. RESULTS: We describe existing biomarkers in NF and report consensus recommendations for SOP and a minimal clinical dataset to accompany samples derived from patients with NF1, NF2, and SWN in decentralized biobanks. CONCLUSIONS: These recommendations are intended to provide clinicians and researchers with a common set of guidelines to collect and store biospecimens and for establishment of biobanks for NF1, NF2, and SWN.
OBJECTIVE: Clinically validated biomarkers for neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis (SWN) have not been identified to date. The biomarker working group's goals are to (1) define biomarker needs in NF1, NF2, and SWN; (2) summarize existing data on biomarkers in NF1, NF2, and SWN; (3) outline recommendations for sample collection and biomarker development; and (4) standardize sample collection and methodology protocols where possible to promote comparison between studies by publishing standard operating procedures (SOPs). METHODS: The biomarker group reviewed published data on biomarkers in NF1, NF2, and SWN and on biobanking efforts outside these diseases via literature search, defined the need for biomarkers in NF, and developed recommendations in a series of consensus meetings. RESULTS: We describe existing biomarkers in NF and report consensus recommendations for SOP and a minimal clinical dataset to accompany samples derived from patients with NF1, NF2, and SWN in decentralized biobanks. CONCLUSIONS: These recommendations are intended to provide clinicians and researchers with a common set of guidelines to collect and store biospecimens and for establishment of biobanks for NF1, NF2, and SWN.
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