Abstract
ObjectivesNeurofibromatosis 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. Design and methodsWe 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. Results127 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). ConclusionsPlasma 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.
Highlights
The neurofibromatoses are a group of disorders characterized by a genetic predisposition to multiple nerve sheath tumors
Samples used in this study were collected from a subset of patients enrolled in a prospective multicenter study of whole-body MRI scanning of subjects with neurofibromatosis 1 (NF1), NF2, and schwannomatosis
There was no relationship between the presence of internal neurofibromas or schwannomas and the presence of detectable S100β in plasma for the overall group or for individual diagnoses by chi-square (p > 0.05 for all comparisons)
Summary
The neurofibromatoses are a group of disorders characterized by a genetic predisposition to multiple nerve sheath tumors. The hallmark tumors in neurofibromatosis include neurofibromas in neurofibromatosis 1 (NF1) patients and schwannomas in NF2 and schwannomatosis patients. There is no non-invasive way to estimate tumor burden in these diseases. A biomarker for nerve sheath tumors could help clinical management of these diseases by screening symptomatic patients for an estimation of internal tumor burden. S100β-secreting cells give rise to classic features of the neurofibromatoses including neurofibromas and schwannomas (Schwann cells) and gliomas (glial cells). The S100β subunit has been studied as a biomarker for many disorders, including stroke, traumatic brain injury and metastatic brain disease [1;2]. The usefulness of S100β levels in estimating internal neurofibroma and schwannoma tumor burden in NF has not been tested
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