OBJECTIVES: The aim of the study was to investigate the relationship of serum levels of neuron-specific enolase, anti-vimentin IgG, and anti-vimentin IgM antibodies in patients with neurofibromatosis type 1 and associated tumors (optic glioma, and plexiform neurofibroma). METHODS: Measurement of neuron-specific enolase and anti-vimentin antibodies were performed in 131 children and adolescents (67 males, mean age 10 years, range 4-19 years; 64 females, mean age 11 years, range 1-20 years) with three different forms of neurofibromatosis type 1 and in control group of 40 individuals (20 males, mean age 9 years, range 1-19 years and 20 females, mean age 12 years, range 3-18 years). RESULTS: Anti-vimentin IgG, IgM antibodies and NSE showed similar ability to distinguish between neurofibromatosis type 1 and tumors associated with neurofibromatosis type 1. (AUC=0.57, AUC=0.52 and AUC=0.59 respectively). NSE showed better diagnostic efficiency (AUC=0.68) than the anti-vimentin IgG and anti-vimentin IgM. (AUC=0.63 and AUC=0.56 respectively). Anti-vimentin IgG and IgM antibodies showed higher sensitivity (87.5% and 87.2%) at the cut off value than the NSE (54%). On the contrary, NSE showed higher specificity at the cut off value than both the anti-vimentin IgG and IgM (71% vs. 22.5% and 16% respectively). CONCLUSIONS: Anti-vimentin IgG and IgM and neuron-specific enolase are relevant markers in investigation of the patients with neurofibromatosis type 1 and associated tumors.

Department of Clinical Biochemistry and Pathobiochemistry University Hospital Motol 2nd Medical Faculty Charles University Prague Czech Republic