Practice Guideline

. 2016 Aug 16;87(7 Suppl 1):S40-8.

doi: 10.1212/WNL.0000000000002932.

Current status and recommendations for biomarkers and biobanking in neurofibromatosis

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; REiNS International Collaboration

Collaborators, Affiliations

Collaborators

REiNS International Collaboration:
Shivani Ahlawat, Srivandana Akshintala, Jeffrey Allen, Simone Ardern-Holmes, Robert Avery, Amedeo Azizi, Dusica Babovic-Vuksanovic, Annette Bakker, Andrea Baldwin, Fred Barker, Amanda Bergner, Chetan Bettegowda, Sucharita Bhaumik, Larissa Bilaniuk, Kim Bischoff, Jaishri Blakely, Diana Bradford, Miriam Bredella, Wenli Cai, John Carino, Avneesh Chabra, Patricia Ciavarelli, Wade Clapp, Stephen Connor, Albert Cornelius, Tambra Dahlheimer, Stephanie Davis, Peter de Blank, Vidya Dhote, Joni Doherty, Eva Dombi, William Dudley, Rachel Ershler, D Gareth Evans, Laura Fayad, Cristina Fernandez-Valle, Rosalie Ferner, Michael Fisher, Barbara Franklin, Giulia Fulci, Tracy Galloway, Kathy Gardner, Richard Gedrich, Marco Giovannini, Amy Goldstein, Anne Goodwin, Stephane Goutagny, David Gutmann, Theresa Hadlock, Chris Halpin, C Oliver Hanemann, Kristina Hardy, Gordon Harris, Desiree Headley, Gena Heidary, Jonathan Heller, Cynthia Hingtgen, Trent Hummel, Susan Huson, Michael Jacobs, Jennifer Janusz, Diego Jaramillo, Justin Jordan, Allen Julian, Michel Kalamarides, Matthias Karajannis, Bonnie Klein-Tasman, Pamela Knight, Bruce Korf, Shannon Langmead, Theresa LaVallee, Fawn Leigh, Donita Lightner, Carol Lin, Robert Listernick, Grant Liu, Mevo Marco, Carole Marcus, Gabriella Mariani, Staci Martin, Victor Mautner, Vanessa Merker, Michael Ferguson, Chris Moertel, Jill Morris, Katrina Morris, Kathryn North, Fabio Nunes, Roger Packer, Laura Papi, Allyson Parry, Neha Patel, Jonathan Payne, Karen Peluso, Sebastian Perreault, Scott Plotkin, Tina Poussaint, Nancy Ratner, Karlyne Reilly, Vincent Riccardi, Kent Robertson, Claas Rohl, Deborah Rukin Gold, La Rosa Salvatore, Laura Schaffner Gray, Elizabeth Schorry, Claire Semerjian, Monica Sheridan, Chie-Schin Shih, Carolyn Sidor, William Slattery 3rd, Miriam Smith, Kathy Sommer, Marigo Stathis, Matt Steensma, Anat Stemmer-Rachamimov, David Stevenson, Kari Struemph, Lara Sullivan, Mary Anne Tamula, Mary Thomas, Heather Thompson, James Tonsgard, Nicole Ullrich, Sharad Verma, David Viskochil, Ana-Maria Vranceanu, Ute Wahllander, Karin Walsh, Bradley Welling, Ralph Wenzel, Trish Whitcomb, Brigitte Widemann, Victoria Williams, David Wolf, Pamela Wolters, Kaleb Yohay

Affiliations

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.

PMID: 27527649
PMCID: PMC5578360
DOI: 10.1212/WNL.0000000000002932

Practice Guideline

Current status and recommendations for biomarkers and biobanking in neurofibromatosis

C Oliver Hanemann et al. Neurology. 2016.

. 2016 Aug 16;87(7 Suppl 1):S40-8.

doi: 10.1212/WNL.0000000000002932.

Authors

Collaborators

REiNS International Collaboration:
Shivani Ahlawat, Srivandana Akshintala, Jeffrey Allen, Simone Ardern-Holmes, Robert Avery, Amedeo Azizi, Dusica Babovic-Vuksanovic, Annette Bakker, Andrea Baldwin, Fred Barker, Amanda Bergner, Chetan Bettegowda, Sucharita Bhaumik, Larissa Bilaniuk, Kim Bischoff, Jaishri Blakely, Diana Bradford, Miriam Bredella, Wenli Cai, John Carino, Avneesh Chabra, Patricia Ciavarelli, Wade Clapp, Stephen Connor, Albert Cornelius, Tambra Dahlheimer, Stephanie Davis, Peter de Blank, Vidya Dhote, Joni Doherty, Eva Dombi, William Dudley, Rachel Ershler, D Gareth Evans, Laura Fayad, Cristina Fernandez-Valle, Rosalie Ferner, Michael Fisher, Barbara Franklin, Giulia Fulci, Tracy Galloway, Kathy Gardner, Richard Gedrich, Marco Giovannini, Amy Goldstein, Anne Goodwin, Stephane Goutagny, David Gutmann, Theresa Hadlock, Chris Halpin, C Oliver Hanemann, Kristina Hardy, Gordon Harris, Desiree Headley, Gena Heidary, Jonathan Heller, Cynthia Hingtgen, Trent Hummel, Susan Huson, Michael Jacobs, Jennifer Janusz, Diego Jaramillo, Justin Jordan, Allen Julian, Michel Kalamarides, Matthias Karajannis, Bonnie Klein-Tasman, Pamela Knight, Bruce Korf, Shannon Langmead, Theresa LaVallee, Fawn Leigh, Donita Lightner, Carol Lin, Robert Listernick, Grant Liu, Mevo Marco, Carole Marcus, Gabriella Mariani, Staci Martin, Victor Mautner, Vanessa Merker, Michael Ferguson, Chris Moertel, Jill Morris, Katrina Morris, Kathryn North, Fabio Nunes, Roger Packer, Laura Papi, Allyson Parry, Neha Patel, Jonathan Payne, Karen Peluso, Sebastian Perreault, Scott Plotkin, Tina Poussaint, Nancy Ratner, Karlyne Reilly, Vincent Riccardi, Kent Robertson, Claas Rohl, Deborah Rukin Gold, La Rosa Salvatore, Laura Schaffner Gray, Elizabeth Schorry, Claire Semerjian, Monica Sheridan, Chie-Schin Shih, Carolyn Sidor, William Slattery 3rd, Miriam Smith, Kathy Sommer, Marigo Stathis, Matt Steensma, Anat Stemmer-Rachamimov, David Stevenson, Kari Struemph, Lara Sullivan, Mary Anne Tamula, Mary Thomas, Heather Thompson, James Tonsgard, Nicole Ullrich, Sharad Verma, David Viskochil, Ana-Maria Vranceanu, Ute Wahllander, Karin Walsh, Bradley Welling, Ralph Wenzel, Trish Whitcomb, Brigitte Widemann, Victoria Williams, David Wolf, Pamela Wolters, Kaleb Yohay

Affiliations

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.

PMID: 27527649
PMCID: PMC5578360
DOI: 10.1212/WNL.0000000000002932

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.

PubMed Disclaimer

References

1. Plotkin SR, Stemmer-Rachamimov AO, Barker FG, et al. Hearing improvement after bevacizumab in patients with neurofibromatosis type 2. N Engl J Med 2009;361:358–367. - PMC - PubMed
1. Plotkin SR, Blakeley JO, Dombi E, et al. Achieving consensus for clinical trials: the REiNS International Collaboration. Neurology 2013;81:S1–S5. - PMC - PubMed
1. Dombi E, Ardern-Holmes SL, Babovic-Vuksanovic D, et al. Recommendations for imaging tumor response in neurofibromatosis clinical trials. Neurology 2013;81:S33–S40. - PMC - PubMed
1. Khleif SN, Doroshow JH, Hait WN; AACR-FDA-NCI Cancer Biomarkers Collaborative. AACR-FDA-NCI Cancer Biomarkers Collaborative consensus report: advancing the use of biomarkers in cancer drug development. Clin Cancer Res 2010;16:3299–3318. - PubMed
1. Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol 2007;6:340–351. - PubMed

Publication types

Actions
Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions

Supplementary concepts

Actions

Grants and funding

U54 HD090255/HD/NICHD NIH HHS/United States

LinkOut - more resources

Full Text Sources
Other Literature Sources
- scite Smart Citations
Medical
- MedlinePlus Health Information
Research Materials
- NCI CPTC Antibody Characterization Program
Miscellaneous
- NCI CPTAC Assay Portal

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Current status and recommendations for biomarkers and biobanking in neurofibromatosis

Collaborators

Affiliations

Current status and recommendations for biomarkers and biobanking in neurofibromatosis

Authors

Collaborators

Affiliations

Abstract

References

Publication types

MeSH terms

Substances

Supplementary concepts

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Research Materials

Miscellaneous