title: Plasma S100β is not a useful biomarker for tumor burden in neurofibromatosis.
abstract: OBJECTIVE
  Neurofibromatosis 1 (NF1), NF2, and schwannomatosis are characterized by a predisposition to develop multiple neurofibromas and schwannomas. Currently, there is no blood test to estimate tumor burden in patients with these disorders. We explored whether S100β would act as a biomarker of tumor burden in NF since S100β is a classic immunohistochemical marker of astrocytes, oligodendrocytes and Schwann cells and a small study showed S100β concentrations correlate with the volume of vestibular schwannomas.
  
  
  METHODS
  We calculated whole-body tumor burden in subjects with NF1, NF2, and schwannomatosis using whole-body MRI (WBMRI) and measured the concentration of S100β in plasma using ELISA. We used chi-square tests and Spearman rank correlations to test the relationship between S100β levels and whole-body tumor burden.
  
  
  RESULTS
  127 consecutive patients were enrolled in the study (69 NF1 patients, 28 NF2 patients, and 30 schwannomatosis patients). The median age was 40years, 43% were male, and median whole-body tumor volume was 26.9mL. There was no relationship between the presence of internal tumors and the presence of detectable S100β in blood for the overall group or for individual diagnoses (p>0.05 by chi-square for all comparisons). Similarly, there was no correlation between whole-body tumor volume and S100β concentration for the overall group or for individual diagnoses (p>0.05 by Spearman for all comparisons).
  
  
  CONCLUSIONS
  Plasma S100β is not a useful biomarker for tumor burden in the neurofibromatoses. Further work is needed to identify a reliable biomarker of tumor burden in NF patients.
authors.affiliation: Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: Miriam J
authors.initials: MJ
authors.lastname: Smith
authors.forename: Sonia
authors.initials: S
authors.lastname: Esparza
authors.forename: Vanessa L
authors.initials: VL
authors.lastname: Merker
authors.forename: Alona
authors.initials: A
authors.lastname: Muzikansky
authors.forename: Miriam A
authors.initials: MA
authors.lastname: Bredella
authors.forename: Gordon J
authors.initials: GJ
authors.lastname: Harris
authors.forename: Ara
authors.initials: A
authors.lastname: Kassarjian
authors.forename: Wenli
authors.initials: W
authors.lastname: Cai
authors.forename: James A
authors.initials: JA
authors.lastname: Walker
authors.forename: Victor F
authors.initials: VF
authors.lastname: Mautner
authors.forename: Scott R
authors.initials: SR
authors.lastname: Plotkin
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009414:Nerve Growth Factors / Q000097:blood*; D017253:Neurofibromatoses / Q000175:diagnosis / Q000473:pathology*; D009456:Neurofibromatosis 1 / Q000473:pathology; D016518:Neurofibromatosis 2 / Q000473:pathology; D009464:Neuroma, Acoustic / Q000473:pathology; D064568:S100 Calcium Binding Protein beta Subunit; D009418:S100 Proteins / Q000097:blood*; D047368:Tumor Burden
chemical_list: D009414:Nerve Growth Factors; D064568:S100 Calcium Binding Protein beta Subunit; D009418:S100 Proteins