ABSTRACT
BACKGROUND/AIM: Neurofibromatosis type 1 (NF1) is characterized by the occurrence of multisystem tumors, among which the most characteristic are optic pathway gliomas (OPGs) and plexiform neurofibromas (PNFs). With the development of new anticancer drugs targeting the immune system, it is important to examine the immunological status of patients with NF1. Furthermore, the immune system has been suggested as a probable modulator of NF1-associated phenotypes. The objective of this study was the analysis of lymphocyte subset populations with respect to the presence of PNFs and OPGs. PATIENTS AND METHODS: Fifty-three patients with NF1 diagnosed with OPG/PNF were analyzed for lymphocyte subpopulations. RESULTS: Significantly lower levels of B-cells, T-cells and natural killer (NK) cells were observed in the group of patients with PNFs compared to those with OPG. CONCLUSION: Our observation may indicate a correlation between weakened functioning of the immune system and the formation of PNFs.
Subject(s)
B-Lymphocyte Subsets/cytology , Killer Cells, Natural/cytology , Neurofibroma, Plexiform/immunology , Neurofibromatosis 1/immunology , Optic Nerve Glioma/immunology , T-Lymphocyte Subsets/cytology , Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Infant , Lymphocyte Count , Male , Middle Aged , Neurofibroma, Plexiform/etiology , Neurofibromatosis 1/complications , Optic Nerve Glioma/etiologyABSTRACT
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.
